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Southeast Asian ovalocytosis(EL4; SAO)

MedGen UID:
350649
Concept ID:
C1862322
Disease or Syndrome
Synonyms: Elliptocytosis 4; HE, STOMATOCYTIC; Ovalocytosis, Malaysian-Melanesian-Filipino type; Stomatocytic elliptocytosis, hereditary
SNOMED CT: Southeast Asian ovalocytosis (723623002); Melanesian ovalocytosis (723623002); Stomatocytic elliptocytosis (723623002)
Modes of inheritance:
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.
 
Gene (location): SLC4A1 (17q21.31)
 
Monarch Initiative: MONDO:0008165
OMIM®: 166900
Orphanet: ORPHA98868

Definition

Southeast Asian ovalocytosis is a hereditary red blood cell disorder that is widespread in certain ethnic groups of Malaysia, Papua New Guinea, the Philippines, and Indonesia. Ovalocytic erythrocytes are rigid and exhibit reduced expression of many erythrocyte antigens. The ovalocytes are resistant to invasion in vitro by several strains of malaria, including Plasmodium falciparum and Plasmodium knowlesi (summary by Jarolim et al., 1991). The disorder is most often asymptomatic but has been reported to be associated with signs of mild hemolysis such as intermittent jaundice and gallstones (summary by Reardon et al., 1993). [from OMIM]

Clinical features

From HPO
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Elliptocytosis
MedGen UID:
98107
Concept ID:
C0427480
Finding
The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.

Term Hierarchy

Professional guidelines

PubMed

Chainarong N, Muangpaisarn W, Suwanrath C
J Perinatol 2021 Oct;41(10):2544-2548. Epub 2021 Sep 6 doi: 10.1038/s41372-021-01202-7. PMID: 34489542

Recent clinical studies

Etiology

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
Reithmeier RA, Casey JR, Kalli AC, Sansom MS, Alguel Y, Iwata S
Biochim Biophys Acta 2016 Jul;1858(7 Pt A):1507-32. Epub 2016 Apr 6 doi: 10.1016/j.bbamem.2016.03.030. PMID: 27058983
Taylor SM, Fairhurst RM
Curr Opin Hematol 2014 May;21(3):193-200. doi: 10.1097/MOH.0000000000000039. PMID: 24675047Free PMC Article
Yenchitsomanus PT
Southeast Asian J Trop Med Public Health 2003 Sep;34(3):651-8. PMID: 15115146
Iolascon A, Perrotta S, Stewart GW
Rev Clin Exp Hematol 2003 Mar;7(1):22-56. PMID: 14692233

Diagnosis

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
Gunaratne W, Dissanayake D, Jayaratne K, Premawardhana NP, Siribaddana S
BMC Nephrol 2020 Aug 5;21(1):327. doi: 10.1186/s12882-020-01959-7. PMID: 32758154Free PMC Article
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
Penman BS, Gupta S, Weatherall DJ
Br J Haematol 2015 Apr;169(1):117-28. Epub 2014 Dec 17 doi: 10.1111/bjh.13241. PMID: 25521998Free PMC Article
Iolascon A, Perrotta S, Stewart GW
Rev Clin Exp Hematol 2003 Mar;7(1):22-56. PMID: 14692233

Therapy

Amarasinghe GS, Agampodi TC, Mendis V, Malawanage K, Kappagoda C, Agampodi SB
BMC Pregnancy Childbirth 2022 Jan 6;22(1):16. doi: 10.1186/s12884-021-04341-z. PMID: 34986796Free PMC Article
Vithanage JP, Ekanayake M
Ceylon Med J 2009 Mar;54(1):19-20. doi: 10.4038/cmj.v54i1.469. PMID: 19391452
Kaitwatcharachai C, Vasuvattakul S, Yenchitsomanus Pt, Thuwajit P, Malasit P, Chuawatana D, Mingkum S, Halperin ML, Wilairat P, Nimmannit S
Am J Kidney Dis 1999 Jun;33(6):1147-52. doi: 10.1016/s0272-6386(99)70154-x. PMID: 10352205

Prognosis

Amarasinghe GS, Agampodi TC, Mendis V, Malawanage K, Kappagoda C, Agampodi SB
BMC Pregnancy Childbirth 2022 Jan 6;22(1):16. doi: 10.1186/s12884-021-04341-z. PMID: 34986796Free PMC Article
Stanisic DI, Moore KA, Baiwog F, Ura A, Clapham C, King CL, Siba PM, Beeson JG, Mueller I, Fowkes FJ, Rogerson SJ
Trans R Soc Trop Med Hyg 2015 May;109(5):313-24. Epub 2015 Mar 10 doi: 10.1093/trstmh/trv019. PMID: 25758854Free PMC Article
Khositseth S, Sirikanerat A, Wongbenjarat K, Opastirakul S, Khoprasert S, Peuksungnern R, Wattanasirichaigoon D, Thongnoppakhun W, Viprakasit V, Yenchitsomanus PT
Am J Kidney Dis 2007 Jun;49(6):841-850.e1. doi: 10.1053/j.ajkd.2007.03.002. PMID: 17533027

Clinical prediction guides

De Meulenaere K, Prajapati SK, Villasis E, Cuypers B, Kattenberg JH, Kasian B, Laman M, Robinson LJ, Gamboa D, Laukens K, Rosanas-Urgell A
Front Cell Infect Microbiol 2022;12:1011692. Epub 2022 Sep 30 doi: 10.3389/fcimb.2022.1011692. PMID: 36250048Free PMC Article
Yamsri S, Kawon W, Duereh A, Fucharoen G, Fucharoen S
J Pediatr Hematol Oncol 2021 Apr 1;43(3):e341-e345. doi: 10.1097/MPH.0000000000001920. PMID: 32815885
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
Fucharoen G, Fucharoen S, Singsanan S, Sanchaisuriya K
Am J Hematol 2007 May;82(5):381-5. doi: 10.1002/ajh.20818. PMID: 17094097
Yenchitsomanus PT
Southeast Asian J Trop Med Public Health 2003 Sep;34(3):651-8. PMID: 15115146

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