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Hereditary elliptocytosis

MedGen UID:: 41747
•Concept ID:: C0013902
•: Disease or Syndrome

Synonyms:	Elliptocytoses, Hereditary; Elliptocytosis, Hereditary; Hereditary Elliptocytoses; Hereditary Elliptocytosis; Hereditary Ovalocytoses; Hereditary Ovalocytosis; Ovalocytoses, Hereditary; Ovalocytosis, Hereditary
SNOMED CT:	Hereditary ovalocytosis (191169008); HE - Hereditary elliptocytosis (191169008); Hereditary elliptocytosis (191169008); Congenital elliptocytosis (191169008)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	SPTB, SPTA1, SLC4A1, EPB41

Monarch Initiative:	MONDO:0017319
Orphanet:	ORPHA288

Definition

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary elliptocytosis

Abnormality of blood and blood-forming tissues
- Abnormal erythrocyte morphology
  - Anemia
    - Congenital anemia
      - Familial hemolytic anemia
        Anemia due to membrane defect
        Hereditary elliptocytosis
        Elliptocytosis 1
        Elliptocytosis 2
        Elliptocytosis 3
        Southeast Asian ovalocytosis

Follow this link to review classifications for Hereditary elliptocytosis in Orphanet.

Professional guidelines

PubMed

Differential diagnosis of hereditary hemolytic anemias in a single multiscreening test by TGA/chemometrics.

Risoluti R , Caprari P , Gullifa G , Sorrentino F , Maffei L , Massimi S , Carcassi E , Materazzi S
Chem Commun (Camb) 2020 Jul 14;56(55):7557-7560. Epub 2020 Jun 18 doi: 10.1039/d0cc02948c. PMID: 32555869

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, McGann PT, Quarmyne MO, Risinger M, Zhang K, Kalfa TA
Blood Cells Mol Dis 2016 Oct;61:4-9. Epub 2016 Jul 17 doi: 10.1016/j.bcmd.2016.07.003. PMID: 27667160 Free PMC Article

ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G, Bianchi P, Lee SH, Zanella A; International Council for Standardization in Haematology
Int J Lab Hematol 2015 Jun;37(3):304-25. Epub 2015 Mar 18 doi: 10.1111/ijlh.12335. PMID: 25790109

See all (6)

Recent clinical studies

Etiology

Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.

Shome DK, Das P, Akbar GA, Taha S, Radhi A, Al-Saad K, Helmy R
Ann Hematol 2023 Sep;102(9):2343-2351. Epub 2023 Jul 4 doi: 10.1007/s00277-023-05337-9. PMID: 37400730

Laboratory Approach to Hemolytic Anemia.

Jamwal M, Sharma P, Das R
Indian J Pediatr 2020 Jan;87(1):66-74. Epub 2019 Dec 10 doi: 10.1007/s12098-019-03119-8. PMID: 31823208

Advances in understanding the pathogenesis of red cell membrane disorders.

Iolascon A, Andolfo I, Russo R
Br J Haematol 2019 Oct;187(1):13-24. Epub 2019 Jul 31 doi: 10.1111/bjh.16126. PMID: 31364155

Inherited hemolytic anemia: a possessive beginner's guide.

Mohandas N
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):377-381. doi: 10.1182/asheducation-2018.1.377. PMID: 30504335 Free PMC Article

Abnormalities of the erythrocyte membrane.

Gallagher PG
Pediatr Clin North Am 2013 Dec;60(6):1349-62. Epub 2013 Oct 15 doi: 10.1016/j.pcl.2013.09.001. PMID: 24237975 Free PMC Article

See all (94)

Diagnosis

Laboratory Approach to Hemolytic Anemia.

Jamwal M, Sharma P, Das R
Indian J Pediatr 2020 Jan;87(1):66-74. Epub 2019 Dec 10 doi: 10.1007/s12098-019-03119-8. PMID: 31823208

Advances in understanding the pathogenesis of red cell membrane disorders.

Iolascon A, Andolfo I, Russo R
Br J Haematol 2019 Oct;187(1):13-24. Epub 2019 Jul 31 doi: 10.1111/bjh.16126. PMID: 31364155

Inherited hemolytic anemia: a possessive beginner's guide.

Mohandas N
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):377-381. doi: 10.1182/asheducation-2018.1.377. PMID: 30504335 Free PMC Article

Acquired "pyro"-poikilocytosis.

Thomas B, Perrin J
Blood 2017 Dec 21;130(25):2808. doi: 10.1182/blood-2017-08-802678. PMID: 29269532

Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.

Da Costa L, Galimand J, Fenneteau O, Mohandas N
Blood Rev 2013 Jul;27(4):167-78. Epub 2013 May 9 doi: 10.1016/j.blre.2013.04.003. PMID: 23664421

See all (143)

Therapy

Abnormalities of the erythrocyte membrane.

Gallagher PG
Pediatr Clin North Am 2013 Dec;60(6):1349-62. Epub 2013 Oct 15 doi: 10.1016/j.pcl.2013.09.001. PMID: 24237975 Free PMC Article

Malaria and hereditary elliptocytosis.

Boctor FN, Dorion RP
Am J Hematol 2008 Sep;83(9):753. doi: 10.1002/ajh.21018. PMID: 17696197

Red cell membrane disorders.

Gallagher PG
Hematology Am Soc Hematol Educ Program 2005:13-8. doi: 10.1182/asheducation-2005.1.13. PMID: 16304353

Inherited disorders of the red cell membrane skeleton.

Lux SE, Wolfe LC
Pediatr Clin North Am 1980 May;27(2):463-86. doi: 10.1016/s0031-3955(16)33862-7. PMID: 6992078

Therapeutic splenectomy.

Cowick D, Leon W
Am Surg 1975 Sep;41(9):567-70. PMID: 1166975

See all (22)

Prognosis

Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.

Shome DK, Das P, Akbar GA, Taha S, Radhi A, Al-Saad K, Helmy R
Ann Hematol 2023 Sep;102(9):2343-2351. Epub 2023 Jul 4 doi: 10.1007/s00277-023-05337-9. PMID: 37400730

Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.

Cao M, Huang Z, Zhou H, Lin J, Zhang D
J Clin Lab Anal 2021 Jun;35(6):e23781. Epub 2021 May 4 doi: 10.1002/jcla.23781. PMID: 33942936 Free PMC Article

X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.

Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N
Gene 2017 Mar 30;606:47-52. Epub 2017 Jan 9 doi: 10.1016/j.gene.2017.01.001. PMID: 28089922

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Red cell membrane polypeptides under normal conditions and in genetic disorders.

Delaunay J
Transfus Clin Biol 1995;2(4):207-16. doi: 10.1016/s1246-7820(05)80086-2. PMID: 8542017

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Clinical prediction guides

Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.

Shome DK, Das P, Akbar GA, Taha S, Radhi A, Al-Saad K, Helmy R
Ann Hematol 2023 Sep;102(9):2343-2351. Epub 2023 Jul 4 doi: 10.1007/s00277-023-05337-9. PMID: 37400730

Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.

Cao M, Huang Z, Zhou H, Lin J, Zhang D
J Clin Lab Anal 2021 Jun;35(6):e23781. Epub 2021 May 4 doi: 10.1002/jcla.23781. PMID: 33942936 Free PMC Article

Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis.

Pollet H, Cloos AS, Stommen A, Vanderroost J, Conrard L, Paquot A, Ghodsi M, Carquin M, Léonard C, Guthmann M, Lingurski M, Vermylen C, Killian T, Gatto L, Rider M, Pyr Dit Ruys S, Vertommen D, Vikkula M, Brouillard P, Van Der Smissen P, Muccioli GG, Tyteca D
Biomolecules 2020 Jul 29;10(8) doi: 10.3390/biom10081120. PMID: 32751168 Free PMC Article

X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

See all (95)