Daniel Yvonne, Hill Kim, Inusa Baba, Thein Swee Lay, Howard Jo
Blood Sciences, Guy's and St. Thomas' Pathology, St. Thomas' Hospital, London, UK.
Hemoglobin. 2011;35(4):406-10. doi: 10.3109/03630269.2011.592555.
In patients who have inherited both the sickle cell gene and the β-thalassemia (β-thal) gene, the nature of the β-thal mutation will impact on the disease phenotype. The β-thal mutation caused by the 1393 bp deletion has previously been described as having a mild clinical phenotype when inherited with the sickle gene. We describe three members of a family with this deletion who present with a more severe phenotype. The severity cannot be explained by their Hb F levels, or the XmnI-HBG2 polymorphism. This deletion cannot be presumed to be associated with a mild disease phenotype and we recommend that patients with Hb S/β(0)-thal are screened for this deletion.
在同时遗传了镰状细胞基因和β地中海贫血（β-地贫）基因的患者中，β-地贫突变的性质会影响疾病表型。先前已描述由1393 bp缺失引起的β-地贫突变与镰状基因一起遗传时具有轻度临床表型。我们描述了一个具有这种缺失的家族中的三名成员，他们表现出更严重的表型。这种严重程度无法用他们的胎儿血红蛋白（Hb F）水平或XmnI-HBG2多态性来解释。不能假定这种缺失与轻度疾病表型相关，我们建议对Hb S/β(0)-地贫患者进行这种缺失的筛查。
