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South east asian ovalocytosis

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    SAO is now known to be caused by a 27 base-pair deletion in SLC4A1, which codes for band 3, a amino acid protein that is both a structural component of the red cell membrane cytoskeleton and the chloride-bicarbonate anion-exchanger in this membrane. SAO is believed to have evolved because these parts of Southeast Asia historically have had a high incidence of Plasmodium falciparum malaria, against which SAO offers clinical protection. Individuals with SAO are characterized as having oval-shaped red blood cells with increased membrane rigidity and decreased anion transport, but no clinical symptoms beyond sporadic associations with anemia in both adults and neonates. The diagnosis is made accidentally as a result of a peripheral blood smear examination, showing the characteristic rounded elliptocytes ovalocytes. See also H Malaria. PMID:
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    The evolutionary origins of Southeast Asian Ovalocytosis

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    The evolutionary origins of Southeast Asian Ovalocytosis

    Southeast Asian Ovalocytosis results from a heterozygous deletion of 9 amino acids in the erythrocyte anion exchange protein AE1 band 3. The report of the first successful birth of an individual homozygous for this mutation showed an association with severe dyserythropoietic anemia. Immunoblotting of membranes from heterozygous Southeast Asian Ovalocytosis red cells showed a quantitative increase in CD44, CD, and calreticulin suggesting a defect in reticulocyte maturation, as well as an increase in phosphorylation at residue Tyr of band 3, and peroxiredoxin-2 at the membrane, suggesting altered band 3 trafficking and oxidative stress, respectively. In vitro culture of homozygous and heterozygous Southeast Asian Ovalocytosis erythroid progenitor cells produced bi- and multi-nucleated cells. Enucleation was severely impaired in the homozygous cells and reduced in the heterozygous cells. Large internal vesicular accumulations of band 3 formed, which co-localized with other plasma membrane proteins and with the autophagosome marker, LC3, but not with ER, Golgi or recycling endosome markers.
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    Southeast Asian ovalocytosis

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