Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe "Biologie Vasculaire et du Globule Rouge", Université Claude Bernard Lyon 1, COMUE Lyon, France.
Laboratoire d'Excellence du Globule Rouge (Labex GR-Ex), PRES Sorbonne, Paris, France.
Clin Hemorheol Microcirc. 2021;77(3):267-272. doi: 10.3233/CH-200951.
Sickle cell anemia (SCA) is a disease characterized by abnormal red blood cell rheology. Because of their effects on HbS polymerization and red blood cell deformability, alpha-thalassemia and the residual HbF level are known genetic modifiers of the disease. The aim of our study was to determine if the number of HbF quantitative trait loci (QTL) would also favor a specific sub-phenotype of SCA as it is the case for alpha-thalassemia. Our results confirmed that alpha-thalassemia protected from cerebral vasculopathy but increased the risk for frequent painful vaso-occlusive crises. We also showed that more HbF-QTL may provide an additional and specific protection against cerebral vasculopathy but only for children with alpha-thalassemia (-α/αα or -α/-α genotypes).
镰状细胞贫血症 (SCA) 是一种以红细胞流变异常为特征的疾病。由于其对 HbS 聚合和红细胞变形性的影响，α-地中海贫血和残余 HbF 水平是该疾病的已知遗传修饰因子。我们的研究目的是确定 HbF 数量性状基因座 (QTL) 的数量是否也会有利于 SCA 的特定亚表型，就像α-地中海贫血一样。我们的研究结果证实，α-地中海贫血可预防脑血管病，但会增加频繁发生疼痛性血管阻塞危象的风险。我们还表明，更多的 HbF-QTL 可能会为脑血管病提供额外的、特定的保护，但仅限于患有α-地中海贫血的儿童 (-α/αα 或 -α/-α 基因型)。
