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==Overview==
==Overview==
The [[hereditary spherocytosis]] classified into 05 subtypes on the basis of underlying [[Protein|protein defect]] including; [[Ankyrin|ankyrin 1]], [[Spectrin|spectrin beta chain (erythrocytic)]], [[Spectrin, alpha 1|spectrin alpha chain (erythrocytic 1)]], [[band 3]] and [[protein 4.2]]. It is also classified on the basis of [[clinical]] severity into mild, moderate and severe subtypes.


==Classification==
==Classification==
* [[Hereditary spherocytosis]] is classified on basis of underlying [[defect]] in [[protein]] and also on the basis of severity of [[hemolysis]].
* Classification of [[hereditary spherocytosis]] on the basis of underlying [[protein]] [[defect]]
{| class="wikitable"
{| class="wikitable"
| colspan="1" rowspan="2" |SPH1
|+
| colspan="1" rowspan="2" |''ANK1''
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Locus}}
| colspan="1" rowspan="2" |Ankyrin-1
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Gene}}
| colspan="1" rowspan="1" |AD
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Protein}}
| colspan="1" rowspan="1" |Mild -moderate
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Inheritance}}
| colspan="1" rowspan="1" |
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Severity}}
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Comment}}
|-
| SPH1
| [[ANK1]]
| [[Ankyrin|Ankyrin-1]]
| [[Autosomal dominant|AD]]/[[Autosomal recessive|AR]]
| mild-moderate/moderately severe-severe
| often [[Blood transfusion|transfusion]] dependant
|-
| SPH2
| [[SPTB]]
| [[Spectrin|Spectrin beta chain]],[[Red blood cell|erythrocytic]]
| [[Autosomal dominant|AD]]/[[Autosomal recessive|AR]]
| mild-moderate/severe
| 1 [[Mortality rate|fatal]] [[Infant|infantile]] case described
|-
|-
| colspan="1" rowspan="1" |AR
| SPH3
| colspan="1" rowspan="1" |Moderately severe -severe
| [[SPTA1]]
| colspan="1" rowspan="1" |Often transfusion dependent
| [[Spectrin, alpha 1|Spectrin alpha chain]],[[Red blood cell|erythrocytic1]]
| [[Autosomal recessive|AR]]
| severe
| [[Blood transfusion|transfusion]] dependant
|-
|-
| colspan="1" rowspan="2" |SPH2
| SPH4
| colspan="1" rowspan="2" |''SPTB''
| [[SLC4A11|SLC4A1]]
| colspan="1" rowspan="2" |Spectrin beta chain, erythrocytic
| [[Band 3|Band3]]([[Ion|anion]] [[transport protein]])
| colspan="1" rowspan="1" |AD
| [[Autosomal dominant|AD]]
| colspan="1" rowspan="1" |Mild -moderate
| mild-moderate
| colspan="1" rowspan="1" |
| certain [[SLC4A11|SLC4A1]] variants [[Causality|cause]] [[disease]] only when [[Allele|biallelic]]
|-
| SPH5
| EPB42
| [[Protein 4.2]]
| [[Autosomal recessive|AR]]
| mild-moderate
| 1 moderately severe [[Causality|case]] described
|}
 
* 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=}}<ref name="pmid3105174">{{cite journal| author=Duboucher C, Milhau S, Bouissou H| title=Isolated amyloidosis of the atrioventricular valves. A study of one case, curiously associated with diffuse storage of plant wax paraffin. | journal=Virchows Arch A Pathol Anat Histopathol | year= 1987 | volume= 410 | issue= 6 | pages= 541-5 | pmid=3105174 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3105174  }}</ref><ref name="pmid10629586">{{cite journal| author=Beauchamp-Nicoud A, Morle L, Lutz HU, Stammler P, Agulles O, Petermann-Khder R et al.| title=Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG). | journal=Haematologica | year= 2000 | volume= 85 | issue= 1 | pages= 19-24 | pmid=10629586 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10629586  }}</ref>
 
{| class="wikitable"
|+
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Classification}}
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Mild}}
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Moderate}}
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Severe}}
|-
|-
| colspan="1" rowspan="1" |AR
! [[Hemoglobin]] (g/dl)
| colspan="1" rowspan="1" |Severe
| 110-150
| colspan="1" rowspan="1" |1 fatal infantile case described
| 80-120
| 60-80
|-
|-
| colspan="1" rowspan="1" |SPH3
! [[Reticulocyte|Reticulocyte count]] (%)
| colspan="1" rowspan="1" |''SPTA1''
| 3-6
| colspan="1" rowspan="1" |Spectrin alpha chain, erythrocytic 1
| >6
| colspan="1" rowspan="1" |AR
| >10
| colspan="1" rowspan="1" |Severe
| colspan="1" rowspan="1" |Transfusion dependent
|-
|-
| colspan="1" rowspan="1" |SPH4
! [[Bilirubin]] (ug/l)
| colspan="1" rowspan="1" |''SLC4A1''
| 17-34
| colspan="1" rowspan="1" |Band 3 (anion transport protein)
| >34
| colspan="1" rowspan="1" |AD
| >51
| colspan="1" rowspan="1" |Mild -moderate
| colspan="1" rowspan="1" |Certain ''SLC4A1'' pathogenic variants cause disease only when biallelic.
|-
|-
| colspan="1" rowspan="1" |SPH5
! [[Splenectomy]]
| colspan="1" rowspan="1" |''EPB42''
| usually not required
| colspan="1" rowspan="1" |Protein 4.2 2
| indicated during school age, usually before [[puberty]]
| colspan="1" rowspan="1" |AR
| necessary - delay until 6 years of [[Ageing|age]] if possible
| colspan="1" rowspan="1" |Mild -moderate 3
| colspan="1" rowspan="1" |1 moderately severe case described
|}
|}



Latest revision as of 20:39, 2 December 2018

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Overview

The hereditary spherocytosis classified into 05 subtypes on the basis of underlying protein defect including; ankyrin 1, spectrin beta chain (erythrocytic), spectrin alpha chain (erythrocytic 1), band 3 and protein 4.2. It is also classified on the basis of clinical severity into mild, moderate and severe subtypes.

Classification

Locus Gene Protein Inheritance Severity Comment
SPH1 ANK1 Ankyrin-1 AD/AR mild-moderate/moderately severe-severe often transfusion dependant
SPH2 SPTB Spectrin beta chain,erythrocytic AD/AR mild-moderate/severe 1 fatal infantile case described
SPH3 SPTA1 Spectrin alpha chain,erythrocytic1 AR severe transfusion dependant
SPH4 SLC4A1 Band3(anion transport protein) AD mild-moderate certain SLC4A1 variants cause disease only when biallelic
SPH5 EPB42 Protein 4.2 AR mild-moderate 1 moderately severe case described
  • Classification of hereditary spherocytosis on the basis of clinical severity.[1]"GeneReviews® - NCBI Bookshelf".[2][3]
Classification Mild Moderate Severe
Hemoglobin (g/dl) 110-150 80-120 60-80
Reticulocyte count (%) 3-6 >6 >10
Bilirubin (ug/l) 17-34 >34 >51
Splenectomy usually not required indicated during school age, usually before puberty necessary - delay until 6 years of age if possible

References

  1. Bolton-Maggs, P H B (2004). "Hereditary spherocytosis; new guidelines". Archives of Disease in Childhood. 89 (9): 809–812. doi:10.1136/adc.2003.034587. ISSN 0003-9888.
  2. Duboucher C, Milhau S, Bouissou H (1987). "Isolated amyloidosis of the atrioventricular valves. A study of one case, curiously associated with diffuse storage of plant wax paraffin". Virchows Arch A Pathol Anat Histopathol. 410 (6): 541–5. PMID 3105174.
  3. Beauchamp-Nicoud A, Morle L, Lutz HU, Stammler P, Agulles O, Petermann-Khder R; et al. (2000). "Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG)". Haematologica. 85 (1): 19–24. PMID 10629586.

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