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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: 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]

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: 27667160Free PMC Article
Prenatal diagnosis of hereditary elliptocytosis with molecular defect of spectrin.
Dhermy D, Feo C, Garbarz M, Lecomte MC, Bournier O, Chaveroche I, Gautero H, Boivin P, Daffos F, Forestier F
Prenat Diagn 1987 Sep;7(7):471-83. doi: 10.1002/pd.1970070703. PMID: 3671334

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: 30504335Free 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: 24237975Free PMC Article

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
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: 30504335Free PMC Article
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: 27667160Free PMC Article
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
Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis.
Delaunay J, Alloisio N, Morle L, Baklouti F, Dalla Venezia N, Maillet P, Wilmotte R
Ann Genet 1996;39(4):209-21. PMID: 9037349

Therapy

Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders.
Llaudet-Planas E, Vives-Corrons JL, Rizzuto V, Gómez-Ramírez P, Sevilla Navarro J, Coll Sibina MT, García-Bernal M, Ruiz Llobet A, Badell I, Velasco-Puyó P, Dapena JL, Mañú-Pereira MM
Int J Lab Hematol 2018 Feb;40(1):94-102. Epub 2017 Oct 10 doi: 10.1111/ijlh.12746. PMID: 29024480
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: 24237975Free 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

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
Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.
Anil More T, Kedar P
Gene 2022 Nov 15;843:146796. Epub 2022 Aug 9 doi: 10.1016/j.gene.2022.146796. PMID: 35961434
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: 33942936Free 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.
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: 27667160Free PMC Article

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: 33942936Free 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: 32751168Free PMC Article
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: 27667160Free PMC Article
Hereditary elliptocytosis: clinical, morphological and biochemical studies of 38 cases.
Dhermy D, Garbarz M, Lecomte MC, Féo C, Bournier O, Chaveroche I, Gautero H, Galand C, Boivin P
Nouv Rev Fr Hematol (1978) 1986;28(3):129-40. PMID: 3748797

Recent systematic reviews

Association between ovalocytosis and Plasmodium infection: a systematic review and meta-analysis.
Kotepui KU, Mahittikorn A, Masangkay FR, Kotepui M
Sci Rep 2023 May 3;13(1):7164. doi: 10.1038/s41598-023-34170-3. PMID: 37137935Free PMC Article

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