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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
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

Recent clinical studies

Etiology

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
Red blood cell defects and malaria.
Williams TN
Mol Biochem Parasitol 2006 Oct;149(2):121-7. Epub 2006 Jun 9 doi: 10.1016/j.molbiopara.2006.05.007. PMID: 16797741
Genetic disorders of the red cell membrane.
Delaunay J
Crit Rev Oncol Hematol 1995 Jun;19(2):79-110. doi: 10.1016/1040-8428(94)00139-k. PMID: 7612181
Hereditary elliptocytosis.
Scholnik AP, Van Tilburg CP, Hoffman GC
Cleve Clin Q 1974 Spring;41(1):23-31. doi: 10.3949/ccjm.41.1.23. PMID: 4822428
GLAUCOMA AND ELLIPTOCYTOSIS.
ANDERSON J, WINSTANLEY DP
Br J Ophthalmol 1964 Jan;48(1):7-12. doi: 10.1136/bjo.48.1.7. PMID: 14189740Free PMC Article

Diagnosis

Southeast Asian ovalocytosis.
Martínez Vázquez C, López Rubio M, Del Orbe Barreto R
Med Clin (Barc) 2022 Oct 14;159(7):347-348. Epub 2022 Jul 21 doi: 10.1016/j.medcli.2022.03.025. PMID: 35871012
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
Acquired "pyro"-poikilocytosis.
Thomas B, Perrin J
Blood 2017 Dec 21;130(25):2808. doi: 10.1182/blood-2017-08-802678. PMID: 29269532
Hereditary Elliptocytosis with Pyropoikilocytosis.
Bayhan T, Ünal Ş, Gümrük F
Turk J Haematol 2016 Mar 5;33(1):86-7. Epub 2015 Aug 6 doi: 10.4274/tjh.2015.0054. PMID: 26377499Free PMC Article
South-East Asian ovalocytosis.
Garnett C, Bain BJ
Am J Hematol 2013 Apr;88(4):328. Epub 2013 Jan 22 doi: 10.1002/ajh.23379. PMID: 23339107

Therapy

Accurate light microscopic diagnosis of South-East Asian ovalocytosis.
Nixon CP, Satyagraha AW, Baird GL, Harahap AR, Panggalo LV, Ekawati LL, Sutanto I, Syafruddin D, Kevin Baird J
Int J Lab Hematol 2018 Dec;40(6):655-662. Epub 2018 Jul 13 doi: 10.1111/ijlh.12900. PMID: 30006977Free 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
Malaria and hereditary elliptocytosis.
Boctor FN, Dorion RP
Am J Hematol 2008 Sep;83(9):753. doi: 10.1002/ajh.21018. PMID: 17696197
Therapeutic splenectomy.
Cowick D, Leon W
Am Surg 1975 Sep;41(9):567-70. PMID: 1166975
Hereditary elliptocytosis and Plasmodium falciparum malaria.
Kruatrachue M, Asawapokee N
Ann Trop Med Parasitol 1972 Mar;66(1):161-2. PMID: 4623244

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
Accurate light microscopic diagnosis of South-East Asian ovalocytosis.
Nixon CP, Satyagraha AW, Baird GL, Harahap AR, Panggalo LV, Ekawati LL, Sutanto I, Syafruddin D, Kevin Baird J
Int J Lab Hematol 2018 Dec;40(6):655-662. Epub 2018 Jul 13 doi: 10.1111/ijlh.12900. PMID: 30006977Free PMC Article
Cabot rings and marked anisopoikilocytosis in Imerslund-Gräsbeck syndrome.
Goubeaux DL, Li W
Blood 2018 Jan 4;131(1):153. doi: 10.1182/blood-2017-10-809178. PMID: 29301775
Three Novel Spectrin Variants in Jaundiced Neonates.
Christensen RD, Agarwal AM, Yaish HM, Reading NS, O'Brien EA, Prchal JT
Clin Pediatr (Phila) 2018 Jan;57(1):19-26. Epub 2017 Jan 15 doi: 10.1177/0009922816687326. PMID: 28090778
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
Accurate light microscopic diagnosis of South-East Asian ovalocytosis.
Nixon CP, Satyagraha AW, Baird GL, Harahap AR, Panggalo LV, Ekawati LL, Sutanto I, Syafruddin D, Kevin Baird J
Int J Lab Hematol 2018 Dec;40(6):655-662. Epub 2018 Jul 13 doi: 10.1111/ijlh.12900. PMID: 30006977Free 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
Natural history of Southeast Asian Ovalocytosis during the first 3 years of life.
Laosombat V, Viprakasit V, Dissaneevate S, Leetanaporn R, Chotsampancharoen T, Wongchanchailert M, Kodchawan S, Thongnoppakun W, Duangchu S
Blood Cells Mol Dis 2010 Jun 15;45(1):29-32. Epub 2010 Apr 24 doi: 10.1016/j.bcmd.2010.03.010. PMID: 20421175
Ability of Plasmodium falciparum to invade Southeast Asian ovalocytes varies between parasite lines.
Cortés A, Benet A, Cooke BM, Barnwell JW, Reeder JC
Blood 2004 Nov 1;104(9):2961-6. Epub 2004 Jul 20 doi: 10.1182/blood-2004-06-2136. PMID: 15265796

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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