Hereditary elliptocytosis history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Niyousha Danesh M.D., M.P.H

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Overview

Most subtypes of Hereditary elliptocytosis are clinically silent, with only some manifestation of clinically significant hemolysis.

Same as other chronic hemolytic disorders, patients with hereditary elliptocytosis may present with signs of mild to sever hemolytic anemia, splenomegaly and a increase tendency of gallstone production.

Hereditary elliptocytosis regards to spectrum of disorders possessing more than 25% elliptical red blood cells. The clinical presentation of various HE subtypes is not identically related to particular molecular lesions. a morphologic classification has been devised. Hereditary elliptocytosis is classified into three main types based on morphologic manifestation,namely common hereditary elliptocytosis,which is the most common type of HE and consist of silent carrier state, typical HE , neonatal poikilocytosis and hereditary pyropoikilocytosis (HPP) subtypes. Other forms of HE include Southeast Asian ovalocytosis and spherocytic elliptocytosis.

These forms of HE are commonly asymptomatic.[1]

History

Most patients with HE are asymptomatic, however hemolysis can be presented in some individuals, which is compensated in the majority of them. Some HE patients, specially HPP subtype or homozygotes, manifest anemia and clinically significant hemolysis.

Some conditions such as pregnancy, infections, ie infectious mononucleosis or hepatitis; vitamin B-12 deficiency and  renal transplant rejection increase the incidence of hemolysis in asymptomatic individuals.

Hereditary pyropoikilocytosis (HPP) is the most severe type of HE and usually presents in infants. HPP patients have lifelong hemolytic anemia. First-degree relatives of these patient are asymptomatic and they have normal lab results, although they might have typical HE.

Neonatal poikilocytosis manifests with jaundice and severe hemolytic anemia in neonates. As opposed to HPP, symptoms of HE usually resolve within the first year of life. However in some patients phototherapy and transfusions may be inevitable.[2]

Southeast Asian ovalocytosis

SAO is generally asymptomatic or it may present mild hemolysis.

This subtype is also associated with renal tubular acidosis, and presents as heterozygous state, Since most of the time the homozygous fetus dies in the utero (hydrops fetalis).

As band 3 is one of the receptors involved in malaria, SAO patients,which have defects in band 3 resist against malaria (Plasmodium falciparum).

Spherocytic elliptocytosis

Spherocytic elliptocytosis or spherocytic hereditary elliptocytosis is commonly presented with obvious signs and symptoms of mild to moderate hemolysis.

HE with spherocytosis, or hereditary hemolytic ovalocytosis are two other names of this disease.[3]

Symptoms

Symptoms of hereditary elliptocytosis include:

  • Fatigue
  • Shortness of breath
  • Yellow skin and eyes (jaundice) - may continue for a long time in a newborn
  • Vague, poorly localised abdominal pain
  • enlarged spleen
  • Growth failure
  • Leg ulcers
  • Gallstones
  • Nausea and vomiting .[4]

References

  1. Christensen RD, Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT, Yaish HM (2014). "Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis". Neonatology. 105 (1): 1–4. doi:10.1159/000354884. PMID 24193021.
  2. Christensen RD, Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT, Yaish HM (2014). "Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis". Neonatology. 105 (1): 1–4. doi:10.1159/000354884. PMID 24193021.
  3. Mohandas N, Gallagher PG (2008). "Red cell membrane: past, present, and future". Blood. 112 (10): 3939–48. doi:10.1182/blood-2008-07-161166. PMC 2582001. PMID 18988878.
  4. Barcellini W, Bianchi P, Fermo E, Imperiali FG, Marcello AP, Vercellati C; et al. (2011). "Hereditary red cell membrane defects: diagnostic and clinical aspects". Blood Transfus. 9 (3): 274–7. doi:10.2450/2011.0086-10. PMC 3136593. PMID 21251470.