Alpha hemoglobinophaties in Rosario, Argentina

Abstract

Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of β -thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated for alpha hemoglobinopathies because of low MCV (15%. Six of them with a clinical phenotype of thalassemia intermedia were diagnosed as Hb H disease (five cases) and Hb H like (one case). It also included one patient with sickle cell trait, confirmed by hematological and molecular studies. We were able to identify alpha globin genes mutations in 92 individuals (87.6%): 88 patients with alpha thalassemia, 3 patients with structural alterations and one with both. In total, 13 individuals (12.4%) had no identified α-globin mutation. This study is the first to deal with the molecular basis of α-hemoglobinophaties in Rosario. 血红蛋白病是全世界最常见的隐性疾病。 尽管我们已对罗萨里奥β地中海贫血的分子基础作出阐述，但是α地中海贫血和α结构性变化的分子基础尚未得到阐明。 在本研究中，105例来自不同家庭转诊至我中心的个体因MCV低(15%而接受了α血红蛋白病调查。 他们中具有中间型地中海贫血临床表型的六例被诊断为Hb H病（五例）和Hb H样（一例）。 其中还包括一例通过血液学和分子研究证实具有镰状细胞特征的患者 。 我们能够在92例个体(87.6%)中识别出α珠蛋白基因突变：88例有α地中海贫血 ，3例有结构性变化，还有一例两者均有。 总计13例个体(12.4%)未被识别出有α珠蛋白突变。 本研究是第一项针对罗萨里奥α地中海贫血分子基础的研究。