Favale Fabrizia, Gardembas Martine, Pajot Olivier, Saada Véronique, Fénéant-Thibault Madeleine, Delaunay Jean, Garçon Loïc
Laboratoire d'Hématologie, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.
Hemoglobin. 2009;33(6):475-9. doi: 10.3109/03630260903344440.
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.
我们报告了一例来自科摩罗群岛的患者发生视网膜中风的病例，该患者同时具有镰状细胞性状和东南亚椭圆形红细胞增多症（SAO）。东南亚椭圆形红细胞增多症是一种显性遗传性状，在东南亚很常见，由编码带3的SLC4A1基因中的27个核苷酸缺失引起，导致阴离子交换减少，但红细胞膜上的阳离子泄漏增加。我们推测，这种阳离子泄漏诱导的红细胞脱水可促进Hb S [β6（A3）Glu→Val，GAG>GTG]的聚合。因此，东南亚椭圆形红细胞增多症可能是镰状细胞性状罕见微血管并发症的一个危险因素。
