title: Southeast Asian ovalocytosis and a sickle cell trait in a young patient with sudden retinal stroke: a fortuitous association?
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.
authors: Laboratoire d'Hématologie, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.
authors: Fabrizia
authors: F
authors: Favale
authors: Martine
authors: M
authors: Gardembas
authors: Olivier
authors: O
authors: Pajot
authors: Véronique
authors: V
authors: Saada
authors: Madeleine
authors: M
authors: Fénéant-Thibault
authors: Jean
authors: J
authors: Delaunay
authors: Loïc
authors: L
authors: Garçon
mesh_terms: D000755:Anemia, Sickle Cell / Q000150:complications* / Q000209:etiology; D001210:Asia, Southeastern; D002412:Cations / Q000378:metabolism; D002463:Cell Membrane Permeability; D004612:Elliptocytosis, Hereditary / Q000150:complications*; D004912:Erythrocytes / Q000473:pathology; D006451:Hemoglobin, Sickle / Q000378:metabolism; D006801:Humans; D008297:Male; D012170:Retinal Vein Occlusion / Q000209:etiology*; D055815:Young Adult
chemical_list: D002412:Cations; D006451:Hemoglobin, Sickle