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| '''For patient information click [[Hereditary spherocytosis (patient information)|here]]''' | | '''For patient information click [[Hereditary spherocytosis (patient information)|here]]''' |
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| {{CMG}} {{ZAS}} | | {{CMG}}; {{AE}} {{ZAS}} |
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| ==[[Hereditary spherocytosis overview|Overview]]== | | ==[[Hereditary spherocytosis overview|Overview]]== |
| '''Hereditary spherocytosis''' is a genetically-transmitted form of [[spherocytosis]], an auto-[[Hemolysis|hemolytic]] [[anemia]] characterized by the production of red blood cells that are sphere-shaped rather than donut-shaped, and therefore more prone to [[hemolysis]].
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| == [[hereditary spherocytosis historical perspective|Historical Perspective]] == | | == [[hereditary spherocytosis historical perspective|Historical Perspective]] == |
| * Hereditary spherocytosis was first described in 1871.<ref>{{Cite journal
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| | author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
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| | title = Hereditary spherocytosis
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| | journal = [[Journal of health, population, and nutrition]]
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| | volume = 28
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| | issue = 1
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| | pages = 107–109
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| | year = 2010
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| | month = February
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| | pmid = 20214092
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| }}</ref>
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| * It is the commonest cause of inherited chronic hemolysis in the northern europe and north america.<ref>{{Cite journal
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| | author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
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| | title = Hereditary spherocytosis
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| | journal = [[Journal of health, population, and nutrition]]
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| | volume = 28
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| | issue = 1
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| | pages = 107–109
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| | year = 2010
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| | month = February
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| | pmid = 20214092
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| }}</ref>
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| == Classification == | | == [[hereditary spherocytosis classification|Classification]] == |
| * Hereditary Spherocytosis classified on basis of underlying defect in protein and also on the basis of severity of hemolysis.
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| * Classification of hereditary spherocytosis on the basis of clinical severity.<ref name="Bolton-Maggs2004">{{cite journal|last1=Bolton-Maggs|first1=P H B|title=Hereditary spherocytosis; new guidelines|journal=Archives of Disease in Childhood|volume=89|issue=9|year=2004|pages=809–812|issn=0003-9888|doi=10.1136/adc.2003.034587}}</ref>{{cite web |url=http://www.ncbi.nlm.nih.gov/books/NBK1116/ |title=GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}
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| {| class="wikitable"
| | == [[hereditary spherocytosis pathophysiology|Pathophysiology]] == |
| |+
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Locus}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Gene}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Protein}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Inheritance}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Severity}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Comment}}
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| |-
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| | SPH1
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| | ANK1
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| | Ankyrin-1
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| | AD/AR
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| | mild-moderate/moderately severe-severe
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| | often transfusion dependant
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| |-
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| | SPH2
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| | SPTB
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| | Spectrin beta chain,erythrocytic
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| | AD/AR
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| | mild-moderate/severe
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| | 1 fatal infantile case described
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| |-
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| | SPH3
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| | SPTA1
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| | Spectrin alpha chain,erythrocytic1
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| | AR
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| | severe
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| | transfusion dependant
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| |-
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| | SPH4
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| | SLC4A1
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| | Band3(anion transport protein)
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| | AD
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| | mild-moderate
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| | certain SLC4A1 variants cause disease only when biallelic
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| |-
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| | SPH5
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| | EPB42
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| | Protein 4.2
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| | AR
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| | mild-moderate
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| | 1 moderately severe case described
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| |}
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| {| class="wikitable"
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| |+
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Classification}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Mild}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Moderate}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Severe}}
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| |-
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| ! Hemoglobin (g/dl)
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| | 110-150
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| | 80-120
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| | 60-80
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| |-
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| ! Reticulocyte count (%)
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| | 3-6
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| | >6
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| | >10
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| |-
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| ! Bilirubin (ug/l)
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| | 17-34
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| | >34
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| | >51
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| |-
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| ! Splenectomy
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| | usually not required
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| | indicated during school age, usually before puberty
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| | necessary - delay until 6 years of age if possible
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| |}
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| == Pathophysiology == | | == [[hereditary spherocytosis causes|Causes]] == |
| * The defects in hereditary spherocytosis lie in the cell membrane.<ref name="Bolton-Maggs2004">{{cite journal|last1=Bolton-Maggs|first1=P H B|title=Hereditary spherocytosis; new guidelines|journal=Archives of Disease in Childhood|volume=89|issue=9|year=2004|pages=809–812|issn=0003-9888|doi=10.1136/adc.2003.034587}}</ref>
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| * The proteins essential for integrity of membrane structure lie immediately under the lipid bilayer, horizental aplha & beta spectrin molecules form heterodimers with linkage to vertical elements- ankyrin, proteins 4.1 & 4.2 and band 3 (a transmembrane protein).
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| * Different genes code for each of these proteins, therefore hereditary spherocytosis is a hetrogenous disorder which can result from a defect in any one of these proteins.
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| * The destabilization of membrane leads to both abnormal morphology and reduced red cell life span.
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| * The shorter the life span of red blood cells, the worse the clinical effects.
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| * Genetic defect and clinical severity tend to be fairly constant within a given family,but between family varies from mild asymptomatic hemolysis to severe continuous anemia with jaundice.
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| == Causes == | | == [[Hereditary spherocytosis differential diagnosis|Differentiating Hereditary Spherocytosis from Other Diseases]] == |
| * Hereditary spherocytosis is caused by a variety of genetic mutations.<ref name="HeLiao2018">{{cite journal|last1=He|first1=Ben-Jin|last2=Liao|first2=Lin|last3=Deng|first3=Zeng-Fu|last4=Tao|first4=Yi-Feng|last5=Xu|first5=Yu-Chan|last6=Lin|first6=Fa-Quan|title=Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives|journal=Acta Haematologica|volume=139|issue=1|year=2018|pages=60–66|issn=0001-5792|doi=10.1159/000486229}}</ref><ref name="PerrottaGallagher2008">{{cite journal|last1=Perrotta|first1=Silverio|last2=Gallagher|first2=Patrick G|last3=Mohandas|first3=Narla|title=Hereditary spherocytosis|journal=The Lancet|volume=372|issue=9647|year=2008|pages=1411–1426|issn=01406736|doi=10.1016/S0140-6736(08)61588-3}}</ref>
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| * There are 05 genes associated with hereditary spherocytosis including, alpha spectrin (SPTA1), beta spectrin (SPTB), ankyrin (ANK1), band3 (SLC4A1) and protein 4.2 (EPB42).
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| * Mutations in one or more of hereditary spherocytosis related genes can cause membrane protein deficiency leading to hereditary spherocytosis.
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| {| class="wikitable"
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| |+Molecular and Genetic Characteristics of 5 Erythrocyte Membrane Protein Genes
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Gene}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Chromosome Location}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Membrane Protein}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Prevalent Mutations}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Heredity}}
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| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Associated Disease}}
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| |-
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| | ANK1
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| |8p11.2
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| | Ankyrin-1
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| | frameshift, nonsense, splicing, novel mutations
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| | autosomal dominant, autosomal recessive
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| | hereditary spherocytosis
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| |-
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| | SLC4A1
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| | 17q21
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| | Band3
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| | missense,frameshift,polymorphism
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| | autosomal dominant
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| | hereditary spherocytosis,distal renal tubular acisosis
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| |-
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| | SPTA1
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| | 1q22-q23
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| | alpha spectrin
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| | SpaLEPRA allele, splicing, frameshift
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| | autosomal recessive
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| | hereditary spherocytosis, hereditary eliptocytosis, hereditary pyropoikilocytosis
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| |-
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| | SPTB
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| | 14q23-q24.1
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| | beta spectrin
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| | splicing, frameshift, nonsense, novel mutations
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| | autosomal dominant
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| | hereditary spherocytosis, hereditary eliptocytosis, hereditary pyropoikilocytosis
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| |-
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| | EBP42
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| | 15q15-q21
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| | protein 4.2
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| | missense, nonsense
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| | autosomal recessive
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| | hereditary spherocytosis
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| |}
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| == Differentiating Hereditary Spherocytosis from Other Diseases == | | == [[hereditary spherocytosis epidemiology and demographics|Epidemiology and Demographics]] == |
| * Hereditary spherocytosis presents with hemolysis, therefore should be differentiated from following diseases.<ref>{{Cite journal
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| | author = [[Robert D. Christensen]], [[Hassan M. Yaish]] & [[Patrick G. Gallagher]]
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| | title = A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates
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| | journal = [[Pediatrics]]
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| | volume = 135
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| | issue = 6
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| | pages = 1107–1114
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| | year = 2015
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| | month = June
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| | doi = 10.1542/peds.2014-3516
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| | pmid = 26009624
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| }}</ref><ref name="PerrottaGallagher2008">{{cite journal|last1=Perrotta|first1=Silverio|last2=Gallagher|first2=Patrick G|last3=Mohandas|first3=Narla|title=Hereditary spherocytosis|journal=The Lancet|volume=372|issue=9647|year=2008|pages=1411–1426|issn=01406736|doi=10.1016/S0140-6736(08)61588-3}}</ref>
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| ** Autoimmune hemolysis
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| ** Thermal injury
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| ** Clostridial septicemia
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| ** Wilson disease
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| ** Hemoglobinopathies
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| ** Hereditary stomatocytosis
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| ** Congenital dyserythrpoietic anemia type II
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| == Epidemiology and Demographics == | | == [[hereditary spherocytosis risk factors|Risk Factors]] == |
| * Hereditary spherocytosis is reported worldwide in all racial and ethnic groups.<ref>{{Cite journal
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| | author = [[Silverio Perrotta]], [[Patrick G. Gallagher]] & [[Narla Mohandas]]
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| | title = Hereditary spherocytosis
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| | journal = [[Lancet (London, England)]]
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| | volume = 372
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| | issue = 9647
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| | pages = 1411–1426
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| | year = 2008
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| | month = October
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| | doi = 10.1016/S0140-6736(08)61588-3
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| | pmid = 18940465
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| }}</ref>
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| * It is the most common inherited anemia in the northern European ancestry and north america.<ref>{{Cite journal
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| | author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
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| | title = Hereditary spherocytosis
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| | journal = [[Journal of health, population, and nutrition]]
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| | volume = 28
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| | issue = 1
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| | pages = 107–109
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| | year = 2010
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| | month = February
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| | pmid = 20214092
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| }}</ref>
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| * The reported incidence of hereditary spherocytosis is 1 in 2000 births.<ref>{{Cite journal
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| | author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
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| | title = Hereditary spherocytosis
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| | journal = [[Journal of health, population, and nutrition]]
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| | volume = 28
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| | issue = 1
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| | pages = 107–109
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| | year = 2010
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| | month = February
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| | pmid = 20214092
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| }}</ref>
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| * It is less commonly seen in african american and southeast asian people.<ref name="PerrottaGallagher2008">{{cite journal|last1=Perrotta|first1=Silverio|last2=Gallagher|first2=Patrick G|last3=Mohandas|first3=Narla|title=Hereditary spherocytosis|journal=The Lancet|volume=372|issue=9647|year=2008|pages=1411–1426|issn=01406736|doi=10.1016/S0140-6736(08)61588-3}}</ref>
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| == Risk Factors == | | == [[hereditary spherocytosis screening|Screening]] == |
| * A positive family history is an important risk factor for hereditary spherocytosis, as it is an inherited condition.<ref>{{Cite journal
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| | author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
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| | title = Hereditary spherocytosis
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| | journal = [[Journal of health, population, and nutrition]]
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| | volume = 28
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| | issue = 1
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| | pages = 107–109
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| | year = 2010
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| | month = February
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| | pmid = 20214092
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| }}</ref>
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| * There are no other risk factors have been clearly identified for this condition.
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| == Screening == | | == [[hereditary spherocytosis natural history, complications and prognosis|Natural History, Complications, and Prognosis]] == |
| * The screening test used for hereditary spherocytosis is automated mean cell hemoglobin concentration (MCHC).<ref>{{Cite journal
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| | author = [[L. A. Michaels]], [[A. R. Cohen]], [[H. Zhao]], [[R. I. Raphael]] & [[C. S. Manno]]
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| | title = Screening for hereditary spherocytosis by use of automated erythrocyte indexes
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| | journal = [[The Journal of pediatrics]]
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| | volume = 130
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| | issue = 6
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| | pages = 957–960
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| | year = 1997
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| | month = June
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| | pmid = 9202619
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| }}</ref>
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| * Erythrocyte distribution width when raised is also useful as a powerful screening test.<ref>{{Cite journal
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| | author = [[Silvia Eandi Eberle]], [[Gabriela Sciuccati]], [[Mariana Bonduel]], [[Lilian Diaz]], [[Raquel Staciuk]] & [[Aurora Feliu Torres]]
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| | title = [Erythrocyte indexes in hereditary spherocytosis]
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| | journal = [[Medicina]]
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| | volume = 67
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| | issue = 6 Pt 2
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| | pages = 698–700
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| | year = 2007
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| | month =
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| | pmid = 18422060
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| }}</ref>
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| * The combination of these two tests (MCHC & erythrocyte distribution width) is an excellent predictor for the diagnosis of hereditary spherocytosis.<ref name="MichaelsCohen1997">{{cite journal|last1=Michaels|first1=Lisa A.|last2=Cohen|first2=Alan R.|last3=Zhao|first3=Huaqing|last4=Raphael|first4=Robert I.|last5=Manno|first5=Catherine S.|title=Screening for hereditary spherocytosis by use of automated erythrocyte indexes|journal=The Journal of Pediatrics|volume=130|issue=6|year=1997|pages=957–960|issn=00223476|doi=10.1016/S0022-3476(97)70283-X}}</ref>
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| == Natural History, Complications, and Prognosis == | | == [[hereditary spherocytosis diagnostic study of choice|Diagnosis]] == |
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| === Natural History === | | == [[Hereditary spherocytosis history and symptoms|History and Symptoms]] == |
| * The clinical course of hereditary spherocytosis is variable depending upon the severity of disease.<ref>{{Cite journal
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| | author = [[Olga Ciepiela]]
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| | title = Old and new insights into the diagnosis of hereditary spherocytosis
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| | journal = [[Annals of translational medicine]]
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| | volume = 6
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| | issue = 17
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| | pages = 339
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| | year = 2018
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| | month = September
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| | doi = 10.21037/atm.2018.07.35
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| | pmid = 30306078
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| }}</ref>
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| * During infancy, hemoglobin level falls rapidly after 20 days of birth leading to transient & severe anemia, causing inappropriate erythrocyte response and splenic filtering function.<ref>{{Cite journal
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| | author = [[F. Delhommeau]], [[T. Cynober]], [[P. O. Schischmanoff]], [[P. Rohrlich]], [[J. Delaunay]], [[N. Mohandas]] & [[G. Tchernia]]
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| | title = Natural history of hereditary spherocytosis during the first year of life
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| | journal = [[Blood]]
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| | volume = 95
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| | issue = 2
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| | pages = 393–397
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| | year = 2000
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| | month = January
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| | pmid = 10627440
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| }}</ref>
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| * About 20-30% of patients have mild disease with compensated hemolysis.
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| * About 60-70% of patients have moderate disease, presenting in childhood but can present at any age.
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| * About 3-5% of patients have severe hereditary disease with life threatening anemia, requiring regular transfusions to maintain a hemoglobin concentration of greater than 60g/L.
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| * Without regular transfusions or splenectomy or both, patients may develop kernicterus, severe hemolytic anemia, gallstones, growth retardation, delayed sexual maturation, extramedullary hematopoiesis with hepatosplenomegaly and bony changes (thalassemic facies).<ref name="PerrottaGallagher2008">{{cite journal|last1=Perrotta|first1=Silverio|last2=Gallagher|first2=Patrick G|last3=Mohandas|first3=Narla|title=Hereditary spherocytosis|journal=The Lancet|volume=372|issue=9647|year=2008|pages=1411–1426|issn=01406736|doi=10.1016/S0140-6736(08)61588-3}}</ref>
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| === Complications === | | == [[hereditary spherocytosis physical examination|Physical Examination]] == |
| * The complications of hereditary spherocytosis include:<ref>{{Cite journal
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| | author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
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| | title = Hereditary spherocytosis
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| | journal = [[Journal of health, population, and nutrition]]
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| | volume = 28
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| | issue = 1
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| | pages = 107–109
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| | year = 2010
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| | month = February
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| | pmid = 20214092
| |
| }}</ref><ref name="FriedmanWilliams1988">{{cite journal|last1=Friedman|first1=Ellen Wolkin|last2=Williams|first2=Jeannine C.|last3=van Hook|first3=Lucille|title=Hereditary spherocytosis in the elderly|journal=The American Journal of Medicine|volume=84|issue=3|year=1988|pages=513–516|issn=00029343|doi=10.1016/0002-9343(88)90275-6}}</ref><ref name="GuittonGarçon2008">{{cite journal|last1=Guitton|first1=C.|last2=Garçon|first2=L.|last3=Cynober|first3=T.|last4=Gauthier|first4=F.|last5=Tchernia|first5=G.|last6=Delaunay|first6=J.|last7=Leblanc|first7=T.|last8=Thuret|first8=I.|last9=Bader-Meunier|first9=B.|title=Sphérocytose héréditaire : recommandations pour le diagnostic et la prise en charge chez l’enfant|journal=Archives de Pédiatrie|volume=15|issue=9|year=2008|pages=1464–1473|issn=0929693X|doi=10.1016/j.arcped.2008.04.023}}</ref>
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| ** hemolytic anemia
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| ** jaundice
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| ** kernicterus
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| ** cholelithiasis
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| ** hemolytic, aplastic and megaloblastic crises
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| ** growth failure
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| ** leg ulcers
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| ** skeletal abnormalities resulting from bone marrow expansion
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| ** multiple myeloma
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| ** leukemia
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| === Prognosis === | | == [[hereditary spherocytosis laboratory findings|Laboratory Findings]] == |
| * The prognosis of patients with hereditary spherocytosis is usually good with early diagnosis, regular followup and management.<ref>{{Cite journal
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| | author = [[Yuki Tateno]], [[Ryoji Suzuki]] & [[Yukihiro Kitamura]]
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| | title = Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report
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| | journal = [[Journal of medical case reports]]
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| | volume = 10
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| | issue = 1
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| | pages = 337
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| | year = 2016
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| | month = December
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| | doi = 10.1186/s13256-016-1144-8
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| | pmid = 27906107
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| }}</ref>
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| * Patients with hereditary spherocytosis may remain undiagnosed for years if their hemolysis is mild.
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| == Diagnosis == | | == [[hereditary spherocytosis chest x ray|Chest X ray]] == |
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| === Diagnostic Criteria === | | == [[hereditary spherocytosis CT|CT]] == |
| * The diagnosis of hereditary spherocytosis can be based on the physical examination, complete red cell count, recticulocyte count, medical history and specific tests, preferentially, the EMA (eosin-5-maleimide binding) test and AGLT (acidified glycerol lysis time).<ref name="GuittonGarçon2008">{{cite journal|last1=Guitton|first1=C.|last2=Garçon|first2=L.|last3=Cynober|first3=T.|last4=Gauthier|first4=F.|last5=Tchernia|first5=G.|last6=Delaunay|first6=J.|last7=Leblanc|first7=T.|last8=Thuret|first8=I.|last9=Bader-Meunier|first9=B.|title=Sphérocytose héréditaire : recommandations pour le diagnostic et la prise en charge chez l’enfant|journal=Archives de Pédiatrie|volume=15|issue=9|year=2008|pages=1464–1473|issn=0929693X|doi=10.1016/j.arcped.2008.04.023}}</ref><ref>{{Cite journal
| |
| | author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
| |
| | title = Hereditary spherocytosis
| |
| | journal = [[Journal of health, population, and nutrition]]
| |
| | volume = 28
| |
| | issue = 1
| |
| | pages = 107–109
| |
| | year = 2010
| |
| | month = February
| |
| | pmid = 20214092
| |
| }}</ref>
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| * The diagnosis can be made at any age, including the neonatal period from day of birth.<ref>{{Cite journal
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| | author = [[Yuki Tateno]], [[Ryoji Suzuki]] & [[Yukihiro Kitamura]]
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| | title = Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report
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| | journal = [[Journal of medical case reports]]
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| | volume = 10
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| | issue = 1
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| | pages = 337
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| | year = 2016
| |
| | month = December
| |
| | doi = 10.1186/s13256-016-1144-8
| |
| | pmid = 27906107
| |
| }}</ref>
| |
| * The diagnostic guidelines of hereditary spherocytosis from the British Committee for Standards in hematology do not recommend any additional tests for patients with classical clinical features and laboratory data.
| |
| * The eosin-5-maleimide (EMA) binding test has high sensitivity (92–93%) and specificity (99%) for hereditary spherocytosis, although a positive test can also be obtained in patients affected by related conditions, such as congenital dyserythropoietic anemia type II (CDA II)
| |
| * Other tests, such as the osmotic fragility (OF) test, acidified glycerol lysis test (AGLT) and the pink test, exhibit lower sensitivity compared to the EMA test (68%, 61% and 91%, respectively).<ref>{{Cite journal
| |
| | author = [[Immacolata Andolfo]], [[Roberta Russo]], [[Antonella Gambale]] & [[Achille Iolascon]]
| |
| | title = New insights on hereditary erythrocyte membrane defects
| |
| | journal = [[Haematologica]]
| |
| | volume = 101
| |
| | issue = 11
| |
| | pages = 1284–1294
| |
| | year = 2016
| |
| | month = November
| |
| | doi = 10.3324/haematol.2016.142463
| |
| | pmid = 27756835
| |
| }}</ref>
| |
| * Ektacytometry is a highly sensitive test of membrane deformability.
| |
|
| |
|
| | == [[hereditary spherocytosis MRI|MRI]] == |
|
| |
|
| | == [[hereditary spherocytosis echocardiography or ultrasound| Echocardiography or Ultrasound]] == |
|
| |
|
| {| class="wikitable"
| | == [[hereditary spherocytosis other imaging findings|Other Imaging Findings]] == |
| |+
| |
| Simple Diagnostic Criteria to evoke the Diagnosis of Hereditary Spherocytosis
| |
| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Clinical Parameters}}
| |
| | pallor, splenomegaly, inconstant jaundice
| |
| |-
| |
| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Biological paraneters & erythrocyte indices}}
| |
| | dec Hb, inc MCHC, inc %hyperdense cells, inc reticulocytes
| |
| |-
| |
| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Blood smear}}
| |
| | Spherocytes (may be absent) | |
| |-
| |
| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Signs of hemolysis}}
| |
| | inc free bilirubin, dec haptoglobin, inc reticulocytes
| |
| |-
| |
| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Erythrocyte coombs test}}
| |
| | negative
| |
| |}
| |
|
| |
|
| {| class="wikitable"
| | == [[hereditary spherocytosis other diagnostic studies|Other Diagnostic Studies]] == |
| |+
| |
| Specific Biological Examinations for the Diagnosis of Hereditary Spherocytosis
| |
| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Tests}}
| |
| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Principle/feasibility}}
| |
| ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Sensitivity/Specificity}}
| |
| |-
| |
| | Osmotic resistance
| |
| | hemolysis test/routime examination
| |
| | 66%/low
| |
| |-
| |
| | Pink test
| |
| | hemolysis test/simple test time-out test <3 hours
| |
| | 96%/79-94%
| |
| |-
| |
| | AGLT
| |
| | Hemolysis test time of test >3 hours
| |
| | 81%/95%
| |
| |-
| |
| | Ektacytometry in osmolar gradient
| |
| | study of deformity of RBCs single laboratory in France test execution time:24 hours
| |
| | reference exam
| |
| |-
| |
| | Flow cytometry
| |
| | labeling of RBCs with eosin 5 maleimide/not available on routine basis test run time >48 h
| |
| | Being evaluated
| |
| |}
| |
|
| |
|
| === History and Symptoms === | | == [[hereditary spherocytosis medical therapy|Treatment]] == |
| * Hereditary spherocytosis is a familial hemolytic disorder with marked heterogeneity.<ref>{{Cite journal
| |
| | author = [[Yuki Tateno]], [[Ryoji Suzuki]] & [[Yukihiro Kitamura]]
| |
| | title = Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report
| |
| | journal = [[Journal of medical case reports]]
| |
| | volume = 10
| |
| | issue = 1
| |
| | pages = 337
| |
| | year = 2016
| |
| | month = December
| |
| | doi = 10.1186/s13256-016-1144-8
| |
| | pmid = 27906107
| |
| }}</ref><ref>{{Cite journal
| |
| | author = [[Maria Christina Lopes Araujo Oliveira]], [[Rachel Aparecida Ferreira Fernandes]], [[Carolina Lins Rodrigues]], [[Daniela Aguiar Ribeiro]], [[Maria Fernanda Giovanardi]] & [[Marcos Borato Viana]]
| |
| | title = Clinical course of 63 children with hereditary spherocytosis: a retrospective study
| |
| | journal = [[Revista brasileira de hematologia e hemoterapia]]
| |
| | volume = 34
| |
| | issue = 1
| |
| | pages = 9–13
| |
| | year = 2012
| |
| | month =
| |
| | doi = 10.5581/1516-8484.20120006
| |
| | pmid = 23049376
| |
| }}</ref><ref>{{Cite journal
| |
| | author = [[Immacolata Andolfo]], [[Roberta Russo]], [[Antonella Gambale]] & [[Achille Iolascon]]
| |
| | title = New insights on hereditary erythrocyte membrane defects
| |
| | journal = [[Haematologica]]
| |
| | volume = 101
| |
| | issue = 11
| |
| | pages = 1284–1294
| |
| | year = 2016
| |
| | month = November
| |
| | doi = 10.3324/haematol.2016.142463
| |
| | pmid = 27756835
| |
| }}</ref>
| |
| * Clinical features range from asymptomatic to fulminant hemolytic anemia.<ref>{{Cite journal
| |
| | author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
| |
| | title = Hereditary spherocytosis
| |
| | journal = [[Journal of health, population, and nutrition]]
| |
| | volume = 28
| |
| | issue = 1
| |
| | pages = 107–109
| |
| | year = 2010
| |
| | month = February
| |
| | pmid = 20214092
| |
| }}</ref>
| |
| * Symptoms and history of hereditary spherocytosis include;
| |
| ** hemolysis
| |
| ** anemia
| |
| ** jaundice
| |
| ** weakness
| |
| ** irritability
| |
| ** shortness of breath
| |
| ** pallor
| |
| ** thrombocytopenia
| |
| ** pyelonephritis
| |
| ** hyperbilirubinemia
| |
|
| |
|
| === Physical Examination === | | == [[hereditary spherocytosis medical therapy|Medical Therapy]] == |
| * The physical examination findings in hereditary spherocytosis include;<ref name="PerrottaGallagher2008">{{cite journal|last1=Perrotta|first1=Silverio|last2=Gallagher|first2=Patrick G|last3=Mohandas|first3=Narla|title=Hereditary spherocytosis|journal=The Lancet|volume=372|issue=9647|year=2008|pages=1411–1426|issn=01406736|doi=10.1016/S0140-6736(08)61588-3}}</ref>
| |
| ** scleral icterus
| |
| ** jaundice
| |
| ** splenomegaly
| |
|
| |
|
| === Laboratory Findings === | | == [[hereditary spherocytosis surgery|Surgery]] == |
| '''Initial testing'''
| |
| *<nowiki/>'''CBC and RBC indices''' - The mean cell hemoglobin concentration (MCHC) and red cell distribution width (RDW) are both raised in hereditary spherocytosis.<ref name="Farias2017">{{cite journal|last1=Farias|first1=Mariela Granero|title=Advances in laboratory diagnosis of hereditary spherocytosis|journal=Clinical Chemistry and Laboratory Medicine (CCLM)|volume=55|issue=7|year=2017|issn=1437-4331|doi=10.1515/cclm-2016-0738}}</ref>
| |
| * '''[[Blood smear]] review''' – shows the spherocytes and increased reticulocytes.
| |
| * '''[[Coombs test|Coombs testing]]''' – used when hemolysis is present, to differentiate hereditary spherocytosis from autoimmune hemolytic anemia (AIHA). Coombs test is negative in hereditary spherocytosis.
| |
| '''Confirmatory tests'''
| |
| ** EMA (eosin 5 maleimide binding assay) test<ref>{{Cite journal
| |
| | author = [[Olga Ciepiela]]
| |
| | title = Old and new insights into the diagnosis of hereditary spherocytosis
| |
| | journal = [[Annals of translational medicine]]
| |
| | volume = 6
| |
| | issue = 17
| |
| | pages = 339
| |
| | year = 2018
| |
| | month = September
| |
| | doi = 10.21037/atm.2018.07.35
| |
| | pmid = 30306078
| |
| }}</ref><ref>{{Cite journal
| |
| | author = [[Paola Bianchi]], [[Elisa Fermo]], [[Cristina Vercellati]], [[Anna P. Marcello]], [[Laura Porretti]], [[Agostino Cortelezzi]], [[Wilma Barcellini]] & [[Alberto Zanella]]
| |
| | title = Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics
| |
| | journal = [[Haematologica]]
| |
| | volume = 97
| |
| | issue = 4
| |
| | pages = 516–523
| |
| | year = 2012
| |
| | month = April
| |
| | doi = 10.3324/haematol.2011.052845
| |
| | pmid = 22058213
| |
| }}</ref>
| |
| ** Osmotic fragility test
| |
| ** Acidified glycerol lysis test
| |
| ** Cryohemolysis
| |
| ** Plasma membrane protein electrophoresis
| |
|
| |
|
| === Imaging Findings: === | | ==[[hereditary spherocytosis primary prevention|Primary Prevention]] == |
| * There are no particular other imaging findings associated with HS.
| |
|
| |
|
| === Other Diagnostic Studies: === | | == [[hereditary spherocytosis secondary prevention|Secondary Prevention]]== |
| ** There are no other diagnostic tests available for the hereditary spherocytosis.
| |
|
| |
|
| == Treatment == | | == [[hereditary spherocytosis cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] == |
|
| |
|
| === Medical Therapy === | | == [[hereditary spherocytosis future or investigational therapies|Future or Investigational Therapies]] == |
| * There is no specific medical therapy for hereditary spherocytosis. As the diagnosis of hereditary spherocytosis is made, surveillance is needed to help detect and manage any complications.<ref name="Bolton-MaggsStevens2004">{{cite journal|last1=Bolton-Maggs|first1=P. H. B.|last2=Stevens|first2=R. F.|last3=Dodd|first3=N. J.|last4=Lamont|first4=G.|last5=Tittensor|first5=P.|last6=King|first6=M.-J.|title=Guidelines for the diagnosis and management of hereditary spherocytosis|journal=British Journal of Haematology|volume=126|issue=4|year=2004|pages=455–474|issn=0007-1048|doi=10.1111/j.1365-2141.2004.05052.x}}</ref>
| |
|
| |
|
| * A routine annual review is usually sufficient to detect any complications such as parvovirus infection or abdominal pain which may necessitate the investigation for gallstones.
| | == [[Hereditary spherocytosis case study one|Case Studies]] == |
| * Folate supplementation is not always required, but is used as a routine for children with severe hemolysis and in pregnancy, regardless of severity of hereditary spherocytosis.<ref>{{Cite journal
| |
| | author = [[P. H. B. Bolton-Maggs]]
| |
| | title = Hereditary spherocytosis; new guidelines
| |
| | journal = [[Archives of disease in childhood]]
| |
| | volume = 89
| |
| | issue = 9
| |
| | pages = 809–812
| |
| | year = 2004
| |
| | month = September
| |
| | doi = 10.1136/adc.2003.034587
| |
| | pmid = 15321852
| |
| }}</ref>
| |
| | |
| === Surgery ===
| |
| * Splenectomy is very effective in reducing hemolysis, leading to significant prolongation of the red cell life span.<ref>{{Cite journal
| |
| | author = [[P. H. B. Bolton-Maggs]], [[R. F. Stevens]], [[N. J. Dodd]], [[G. Lamont]], [[P. Tittensor]] & [[M.-J. King]]
| |
| | title = Guidelines for the diagnosis and management of hereditary spherocytosis
| |
| | journal = [[British journal of haematology]]
| |
| | volume = 126
| |
| | issue = 4
| |
| | pages = 455–474
| |
| | year = 2004
| |
| | month = August
| |
| | doi = 10.1111/j.1365-2141.2004.05052.x
| |
| | pmid = 15287938
| |
| }}</ref><ref name="CasalePerrotta2014">{{cite journal|last1=Casale|first1=Maddalena|last2=Perrotta|first2=Silverio|title=Splenectomy for hereditary spherocytosis: complete, partial or not at all?|journal=Expert Review of Hematology|volume=4|issue=6|year=2014|pages=627–635|issn=1747-4086|doi=10.1586/ehm.11.51}}</ref>
| |
| * Patients should be selected for splenectomy on the basis of their clinical symptoms and presence of complications such as gallstones, not simply on the basis of diagnosis alone.
| |
| * Following splenectomy, the clinical manifestations and complications (anemia & gallstones) are much reduced in severe hereditary spherocytosis and abolished in milder cases, but at the risk of increased life threatening sepsis from encapsulated organisms, particularly streptococcus pneumoniae.<ref name="Bolton-MaggsStevens2004">{{cite journal|last1=Bolton-Maggs|first1=P. H. B.|last2=Stevens|first2=R. F.|last3=Dodd|first3=N. J.|last4=Lamont|first4=G.|last5=Tittensor|first5=P.|last6=King|first6=M.-J.|title=Guidelines for the diagnosis and management of hereditary spherocytosis|journal=British Journal of Haematology|volume=126|issue=4|year=2004|pages=455–474|issn=0007-1048|doi=10.1111/j.1365-2141.2004.05052.x}}</ref><ref>{{Cite journal
| |
| | author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
| |
| | title = Hereditary spherocytosis
| |
| | journal = [[Journal of health, population, and nutrition]]
| |
| | volume = 28
| |
| | issue = 1
| |
| | pages = 107–109
| |
| | year = 2010
| |
| | month = February
| |
| | pmid = 20214092
| |
| }}</ref>
| |
| * Children or young adults with mild hereditary spherocytosis who also has gallstones are likely to benefit from combined splenectomy and cholecystectomy in terms of life expectancy.<ref name="Bolton-MaggsStevens2004">{{cite journal|last1=Bolton-Maggs|first1=P. H. B.|last2=Stevens|first2=R. F.|last3=Dodd|first3=N. J.|last4=Lamont|first4=G.|last5=Tittensor|first5=P.|last6=King|first6=M.-J.|title=Guidelines for the diagnosis and management of hereditary spherocytosis|journal=British Journal of Haematology|volume=126|issue=4|year=2004|pages=455–474|issn=0007-1048|doi=10.1111/j.1365-2141.2004.05052.x}}</ref>
| |
| | |
| === Prevention ===
| |
| * The administration of vaccines (pneumococcal, haemophilus influenzae type b, meningococcal group C and influenza) is indicated 2 to 3 weeks before splenectomy.<ref>{{Cite journal
| |
| | author = [[Sayeeda Huq]], [[Mark A. C. Pietroni]], [[Hafizur Rahman]] & [[Mohammad Tariqul Alam]]
| |
| | title = Hereditary spherocytosis
| |
| | journal = [[Journal of health, population, and nutrition]]
| |
| | volume = 28
| |
| | issue = 1
| |
| | pages = 107–109
| |
| | year = 2010
| |
| | month = February
| |
| | pmid = 20214092
| |
| }}</ref>
| |
| * Postsplenectomy patients should also be given 1mg of folic acid daily for preventing secondary folic acid deficiency and oral penicillin (penicillin V) for preventing secondary infection until reaching adulthood.
| |
| | |
| ==Case Studies==
| |
| [[Hereditary spherocytosis case study one|Case #1]] | | [[Hereditary spherocytosis case study one|Case #1]] |
|
| |
|