MyMedR

Hereditary ovalocytosis and haemoglobin E-ovalocytosis in Malayan aborigines

Eng LI

Nature, 1965 Dec 25;208(5017):1329.

PMID: 5870194

Matched MeSH terms: Elliptocytosis, Hereditary/epidemiology*

Fulltext Hereditary ovalocytosis in Malays

George E, Mohandas N, Duraisamy G, Adeeb N, Zainuddin ZA, Teng MS, et al.

Med J Malaysia, 1988 Dec;43(4):327-31.

PMID: 3241598

Matched MeSH terms: Elliptocytosis, Hereditary/blood; Elliptocytosis, Hereditary/epidemiology*

Fulltext Distal renal tubular acidosis and hereditary elliptocytosis in a single family

Thong MK, Tan AA, Lin HP

Singapore Med J, 1997 Sep;38(9):388-90.

PMID: 9407765

Distal renal tubular acidosis (RTA) and hereditary elliptocytosis (HE) are apparently distinct, genetic conditions. We report a family with 3 children having both hereditary elliptocytosis and distal renal tubular acidosis. The simultaneous occurrence of these two conditions in three siblings could be due to covariations in the same family, although a possible contiguous gene syndrome for distal RTA and HE cannot be excluded. This report emphasises the importance of excluding a renal tubular defect in any child who presents with elliptocytosis and failure to thrive.

Matched MeSH terms: Elliptocytosis, Hereditary/complications*; Elliptocytosis, Hereditary/genetics

The mode of inheritance of ovalocytosis/elliptocytosis in Malaysian Orang Asli families

Fix AG, Baer AS, Lie-Injo LE

Hum Genet, 1982;61(3):250-3.

PMID: 7173868 DOI: 10.1007/bf00296452

Hereditary ovalocytosis/elliptocytosis occurs in polymorphic frequencies among several Malaysian populations and also in Melanesia. Although the condition has been described as an autosomal dominant, Melanesian family studies suggest that it is inherited recessively. Based on 75 Orang Asli families, it is shown that the Malaysian form of elliptocytosis is most likely inherited as an autosomal dominant. It appears, therefore, that either the inference of recessive inheritance in Melanesians is incorrect or that the ovalocytosis/elliptocytosis phenotypes are due to distinct genetic entities in the two regions.

Matched MeSH terms: Elliptocytosis, Hereditary/genetics*

Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematologic Analyses

Yamsri S, Kawon W, Duereh A, Fucharoen G, Fucharoen S

J Pediatr Hematol Oncol, 2021 04 01;43(3):e341-e345.

PMID: 32815885 DOI: 10.1097/MPH.0000000000001920

OBJECTIVES: Southeast Asian ovalocytosis (SAO) is an inherited red blood cell (RBC) membrane disorder, whereas hemoglobinopathies are inherited globin gene disorders. In an area where both diseases are prevalent, the interaction between them resulting in variable hematologic parameters can be encountered. However, little is known about the genetic interaction of SAO and thalassemia. We investigated the prevalence of SAO and hemoglobinopathy genotypes among newborns in southern Thailand.

PATIENTS AND METHODS: This study was carried out on 297 newborns recruited consecutively at Naradhiwas Rajanagarindra Hospital in the south of Thailand. The SAO was identified on blood smear examination and polymerase chain reaction analysis. Thalassemia genotypes were defined. Hematologic parameters and hemoglobin (Hb) profiles were recorded and analyzed.

RESULTS: Among 297 newborns, 15 (5.1%) carried SAO, whereas 70 (23.6%) had thalassemia with 15 different thalassemia genotypes. Abnormal Hb including Hb C, Hb Q-Thailand, and Hb D-Punjab were observed in 5 newborns. It was found in the nonthalassemic newborns that RBC count, Hb, and hematocrit of the nonthalassemic newborns with SAO were significantly lower than those without SAO. The same finding was also observed in the thalassemic newborns; RBC count, Hb, and hematocrit of the thalassemic newborns with SAO were significantly lower than those without SAO. However, the mean corpuscular volume, mean corpuscular Hb, and RBC distribution width of the SAO-newborns were significantly higher.

CONCLUSIONS: Both SAO and hemoglobinopathy genotypes are common in southern Thailand. One should take this into consideration when evaluating neonatal anemia and other hematologic abnormalities. Identification of both genetic defects and long-term monitoring on the clinical outcome of this genetic interaction should be essential to understand the pathogenesis of these common genetic disorders in the region.

Matched MeSH terms: Elliptocytosis, Hereditary/blood*; Elliptocytosis, Hereditary/genetics; Elliptocytosis, Hereditary/epidemiology*

Rigid membranes of Malayan ovalocytes: a likely genetic barrier against malaria

Mohandas N, Lie-Injo LE, Friedman M, Mak JW

Blood, 1984 Jun;63(6):1385-92.

PMID: 6722355

A high frequency of nonhemolytic hereditary ovalocytosis in Malayan aborigines is thought to result from reduced susceptibility of affected individuals to malaria. Indeed, Kidson et al. recently showed that ovalocytes from Melanesians in Papua New Guinea are resistant to infection in culture by the malarial parasite Plasmodium falciparum. In order to determine if protection against parasitic invasion in these ovalocytes might be the result of some altered membrane material property in these unusual cells, we measured their membrane and cellular deformability characteristics using an ektacytometer . Ovalocytic red cells were found to be much less deformable in comparison to normal discoid red cells. Similar measurements on isolated membrane preparations revealed a marked reduction in ovalocytic membrane deformability. To produce equal deformation of ovalocytic and normal membranes, ovalocytes required an 8-10-fold increase in applied shear stress, indicating that their membrane was capable of deforming under sufficient stress. To test the possibility that this increased membrane rigidity might confer resistance to parasitic invasion, we performed an in vitro invasion assay using Plasmodium falciparum merozoites and Malayan ovalocytes of varying deformability from seven different donors. The level of infection of the ovalocytes ranged from 1% to 35% of that in control cells, and the extent of inhibition appeared to be closely related to the reduction in membrane deformability. Moreover, we were able to induce similar resistance to parasitic invasion in nonovalocytic normal red cells by increasing their membrane rigidity with graded exposure to a protein crosslinking agent. Our findings suggest that resistance to parasite invasion of Malayan ovalocytes is the result of a genetic mutation that causes increased membrane rigidity.

Matched MeSH terms: Elliptocytosis, Hereditary/pathology*

Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency and hereditary ovalocytosis in the Dayaks of Sarawak

Ganesan J, Lie-Injo LE, Ong Beng P

Hum. Hered., 1975;25(4):258-62.

PMID: 1184011 DOI: 10.1159/000152733

A survey of abnormal hemoglobins, G6PD deficiency and hereditary ovalocytosis was carried out among the Dayaks of Sarawak. The only abnormal hemoglobin found was Hb Co Sp, which occurred in 0.35% of the Land Dayaks and 0.83% of the Sea Dayaks. G6PD deficiency occurred in 5.3% of the male Land Dayaks and 5.0% of the male Sea Dayaks; no electrophoretic variant of G6PD was found in any of the 285 Land Dayaks and 240 Sea Dayaks examined. Hereditary ovalocytosis was found in 12.7% of the Land Dayaks and 9.0% of the Sea Dayaks.

Matched MeSH terms: Elliptocytosis, Hereditary/epidemiology*

Haemoglobin E-hereditary elliptocytosis in Malayan aborigines

Lie-Injo LE, Fix A, Bolton JM, Gilman RH

Acta Haematol., 1972;47(4):210-6.

PMID: 4625303

Matched MeSH terms: Elliptocytosis, Hereditary*

Co-inheritance of Southeast Asian Ovalocytosis (SAO) and G6PD deficiency associated with acute hemolysis in a Thai patient

Prayongratana K, Viprakasit V

Blood Cells Mol. Dis., 2019 11;79:102347.

PMID: 31323480 DOI: 10.1016/j.bcmd.2019.102347

Matched MeSH terms: Elliptocytosis, Hereditary/genetics*

Elliptocytosis, malaria, and fertility in Malaysia

Baer A

Hum Biol, 1988 Dec;60(6):909-15.

PMID: 3235080

Matched MeSH terms: Elliptocytosis, Hereditary/genetics*

Southeast asian ovalocytosis: the need for a carefull observation of red cell indices and blood smear

Moulin PA, Nivaggioni V, Saut N, Grosdidier C, Bernot D, Baccini V

Ann. Biol. Clin. (Paris), 2017 Dec 01;75(6):699-702.

PMID: 29043981 DOI: 10.1684/abc.2017.1291

Southeast asian ovalocytosis (SAO) is characterized by macro-ovalocytes and ovalo-stomatocytes on blood smear. SAO is common in Malaisia and Papua-New-Guinea where upwards to 40 per cent of the population is affected in some coastal region. Inherited in an autosomal dominant way, illness results from deletion of codons 400-408 in SLC4A1 gene which encodes for band 3 erythrocyte membrane protein. This deletion is responsible for an unusual erythrocyte stiffness and oval shape of the cells on blood smear. Heterozygous carriers are usually asymptomatic whereas homozygous are not viable without an intensive antenatal care. Here, we describe 4 patients diagnosed incidentally by cytogram appearance of the Advia® 2120i (Siemens) representing hemoglobin concentration according to red blood mean cellular volume (GR/VCH).

Matched MeSH terms: Elliptocytosis, Hereditary/blood; Elliptocytosis, Hereditary/diagnosis*; Elliptocytosis, Hereditary/pathology

Hereditary ovalocytosis and reduced susceptibility to malaria in Papua New Guinea

Cattani JA, Gibson FD, Alpers MP, Crane GG

Trans R Soc Trop Med Hyg, 1987;81(5):705-9.

PMID: 3329776

Ovalocytosis, an hereditary condition in which most erythrocytes are oval in shape, is a polymorphism that occurs in up to 20% or more of the population in Papua New Guinea and Malaysia. Due to the geographical correlation of the trait with endemic malaria, the possibility of a selective advantage in resistance to malaria has been raised. In a study of 202 individuals with greater than or equal to 50% oval red cells matched by age, sex and village of residence with controls having less than or equal to 30% oval cells, ovalocytic subjects had blood films negative for Plasmodium vivax (P = 0.009), for P. falciparum (P = 0.044), and for all species of malaria parasites (P = 0.013), more often than controls. Among individuals parasitaemic at any time there were no clear differences in density of parasitaemia. However, in children 2 to 4 years old, parasite densities of both species were lower in ovalocytic subjects than in controls (0.01 less than P less than 0.025). The differential susceptibility to malaria infection suggested by this study has implications for the evaluation of interventions, including possible future vaccine field trials, in populations where high-frequency ovalocytosis is present.

Matched MeSH terms: Elliptocytosis, Hereditary/immunology*; Elliptocytosis, Hereditary/epidemiology

Abnormal haemoglobins and hereditary ovalocytosis in the Ulu Jempul District of Kuala Pilah, West Malaysia

Ganesan J, George R, Lie-Injo LE

Southeast Asian J. Trop. Med. Public Health, 1976 Sep;7(3):430-3.

PMID: 1025742

A survey of abnormal haemoglobins and hereditary ovalocytosis was carried out among 629 Malays of Minangkabau descent in the Ulu Jempul District of Kuala Pilah, in the state of Negri Sembilan in West Malaysia.. Several abnormal haemoglobins were found with the following frequencies: Hb E 5.25%, Hb CoSp 2.38%, Hb A2 indonesia 0.80%, a fast moving Hb with a Mobility between A and Bart's 0.64% and Hb Q 0.16%. Hereditary ovalocytosis was found in 13.2% of these people. None of the persons with hereditary ovalocytosis had any evidence of haemolysis.

Matched MeSH terms: Elliptocytosis, Hereditary/blood; Elliptocytosis, Hereditary/epidemiology*

High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis

Yusoff NM, Van Rostenberghe H, Shirakawa T, Nishiyama K, Amin N, Darus Z, et al.

J Hum Genet, 2003;48(12):650-653.

PMID: 14618420 DOI: 10.1007/s10038-003-0095-2

Southeast Asian ovalocytosis (SAO) is a red blood cell abnormality common in malaria-endemic regions and caused by a 27 nt deletion of the band 3 protein gene. Since band 3 protein, also known as anion exchanger 1, is expressed in renal distal tubules, the incidence of SAO was examined in distal renal tubular acidosis (dRTA) in Malays in Kelantan, Malaysia. Twenty-two patients with dRTA and 50 healthy volunteers were examined for complication of SAO by both morphological and genetic analyses. SAO was identified in 18 of the 22 dRTA patients (81.8%), but only two of the 50 controls (4%). The incidence of SAO was significantly high in those with dRTA (p<0.001), indicating a dysfunctional role for band 3 protein/anion exchanger 1 in the development of dRTA.

Matched MeSH terms: Elliptocytosis, Hereditary/complications; Elliptocytosis, Hereditary/genetics*

The evolutionary origins of Southeast Asian Ovalocytosis

Paquette AM, Harahap A, Laosombat V, Patnode JM, Satyagraha A, Sudoyo H, et al.

Infect Genet Evol, 2015 Aug;34:153-9.

PMID: 26047685 DOI: 10.1016/j.meegid.2015.06.002

Southeast Asian Ovalocytosis (SAO) is a common red blood cell disorder that is maintained as a balanced polymorphism in human populations. In individuals heterozygous for the SAO-causing mutation there are minimal detrimental effects and well-documented protection from severe malaria caused by Plasmodium vivax and Plasmodium falciparum; however, the SAO-causing mutation is fully lethal in utero when homozygous. The present-day high frequency of SAO in Island Southeast Asia indicates the trait is maintained by strong heterozygote advantage. Our study elucidates the evolutionary origin of SAO by characterizing DNA sequence variation in a 9.5 kilobase region surrounding the causal mutation in the SLC4A1 gene. We find substantial haplotype diversity among SAO chromosomes and estimate the age of the trait to be approximately 10,005 years (95% CI: 4930-23,200 years). This date is far older than any other human malaria-resistance trait examined previously in Southeast Asia, and considerably pre-dates the widespread adoption of agriculture associated with the spread of speakers of Austronesian languages some 4000 years ago. Using a genealogy-based method we find no evidence of historical positive selection acting on SAO (s=0.0, 95% CI: 0.0-0.03), in sharp contrast to the strong present-day selection coefficient (e.g., 0.09) estimated from the frequency of this recessively lethal trait. This discrepancy may be due to a recent increase in malaria-driven selection pressure following the spread of agriculture, with SAO targeted as a standing variant by positive selection in malarial populations.

Matched MeSH terms: Elliptocytosis, Hereditary/genetics*

Fulltext Homozygous haemoglobin E in association with hereditary ovalocytosis

George E, Kudva MV

Med J Malaysia, 1989 Sep;44(3):255-8.

PMID: 2626141

Hereditary stomatocytic ovalocytosis and haemoglobin E are two genes present in 3-5% of Malays. This is a report of a 22 year old Malay college student with homozygous haemoglobin E and hereditary stomatocytic ovalocytosis where the clinical effects seen were the result of the summation of these genes: he was asymptomatic, presenting with moderate jaundice, moderate hepatosplenomegaly, and a mild haemolytic anaemia.

Matched MeSH terms: Elliptocytosis, Hereditary/genetics*

Stomatocytic elliptocytosis and 'neutrophil drumsticks' as a marker of stem cell engraftment

S-Abdul-Wahid F, Soon-Keng C

Br J Haematol, 2002 Mar;116(4):731.

PMID: 11886374

Matched MeSH terms: Elliptocytosis, Hereditary/pathology

Hereditary elliptocytosis with acute lymphoblastic leukaemia

TI TS

Med J Malaya, 1962 Mar;16:214-8.

PMID: 13921142

Matched MeSH terms: Elliptocytosis, Hereditary*

Ovalocytosis protects against severe malaria parasitemia in the Malayan aborigines

Foo LC, Rekhraj V, Chiang GL, Mak JW

Am J Trop Med Hyg, 1992 Sep;47(3):271-5.

PMID: 1524139

The malaria parasite rates and densities were compared in 79 ovalocytic-normocytic pairs of Malayan Aborigines matched for age, sex, proximity of residence to each other, and use of bed nets when sleeping in their jungle settlement in central Peninsular Malaysia. Malaria infection was determined from thick and thin Giemsa-stained blood films collected monthly for a period of six months. Blood films from ovalocytic individuals were found to be positive for malaria less often than in persons with normal red blood cells (P less than 0.05). Malaria infections per 100 person-months at risk were 9.7 in the ovalocytic group compared with 15.19 in the normocytic group. Among individuals parasitemic at any time, heavy infections (greater than or equal to 10,000 parasites/mm3 of blood) with Plasmodium falciparum, P. vivax, and P. malariae were encountered only in normocytic subjects, which comprised approximately 12.5% of the malaria-positive individuals in this group. In an earlier survey of 629 settlers that identified subjects for the above study, the prevalence of ovalocytosis was found to increase significantly with age. The above field observations support the view that ovalocytic individuals might have a survival advantage in the face of malaria. Consideration of the ovalocytic factor is indicated in future evaluations of malaria control measures in areas where ovalocytosis is prevalent.

Matched MeSH terms: Elliptocytosis, Hereditary/complications*; Elliptocytosis, Hereditary/epidemiology

Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis

Jarolim P, Palek J, Amato D, Hassan K, Sapak P, Nurse GT, et al.

Proc Natl Acad Sci U S A, 1991 Dec 15;88(24):11022-6.

PMID: 1722314

Southeast Asian ovalocytosis (SAO) is a hereditary condition that is widespread in parts of Southeast Asia. The ovalocytic erythrocytes are rigid and resistant to invasion by various malarial parasites. We have previously found that the underlying defect in SAO involves band 3 protein, the major transmembrane protein, which has abnormal structure and function. We now report two linked mutations in the erythrocyte band 3 gene in SAO: (i) a deletion of codons 400-408 and (ii) a substitution, A----G, in the first base of codon 56 leading to substitution of Lys-56 by Glu-56. The first defect leads to a deletion of nine amino acids in the boundary of cytoplasmic and membrane domains of band 3. This defect has been detected in all 30 ovalocytic subjects from Malaysia, the Philippines, and two unrelated coastal regions of Papua New Guinea, whereas it was absent in all 30 controls from Southeast Asia and 20 subjects of different ethnic origin from the United States. The Lys-56----Glu substitution has likewise been found in all SAO subjects. However, it has also been detected in 5 of the 50 control subjects, suggesting that it represents a linked polymorphism. We conclude that the deletion of codons 400-408 in the band 3 gene constitutes the underlying molecular defect in SAO.

Matched MeSH terms: Elliptocytosis, Hereditary/blood; Elliptocytosis, Hereditary/genetics*

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