β地中海贫血(下称β地贫)系常染色体遗传性疾病.本室采用血红蛋白理化性质筛查,检出β地贫89个家系,其中1家系经变异型研究,确诊先证者为β~+地贫双重杂合子,其父母均为β~+地贫杂合子,现报道如下: 先证者,男,1岁,汉族,父籍湖北鄂城,母籍湖北汉阳.病史:半岁时因高热就医才知有贫血(Hb 49g/L),曾多次输血,贫血暂时减轻。近 β thalassemia (hereinafter referred to as β thalassemia) is an autosomal genetic disease in our hospital using hemoglobin physical and chemical properties screening, detection of β-thalassemia 89 families, of which 1 were mutated studies confirmed the proband was β ~ + Thalassemia heterozygous parents, their parents are heterozygous β ~ + thalassemia, are reported as follows: proband, male, 1 year old, Han nationality, origin Hubei Echeng, mother of Hubei Hanyang. History: at the age of six Anemia (Hb 49g / L) was known because of high fever and had multiple transfusions, temporarily reducing anemia. near