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  • Title: Southeast Asian ovalocytosis and a sickle cell trait in a young patient with sudden retinal stroke: a fortuitous association?
    Author: Favale F, Gardembas M, Pajot O, Saada V, Fénéant-Thibault M, Delaunay J, Garçon L.
    Journal: Hemoglobin; 2009; 33(6):475-9. PubMed ID: 19958192.
    Abstract:
    We report a case of retinal stroke in a patient from the Comoros Islands with both sickle cell trait and Southeast Asian ovalocytosis (SAO). Southeast Asian ovalocytosis is a dominantly inherited trait, frequent in Southeast Asia, caused by a 27 nucleotide deletion in the SLC4A1 gene that encodes band 3, leading to a decreased anion exchange but an increased cation leak across the erythrocyte membrane. We hypothesized that the red cell dehydration that can be induced by this cation leak can facilitate polymerization of Hb S [beta6(A3)Glu -->Val, GAG>GTG]. Southeast Asian ovalocytosis could then be a risk factor for rare microvascular complications in sickle cell trait.
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