Department of Haematology, Christian Medical College, Vellore, Tamilnadu, India.
Int J Hematol. 2012 May;95(5):570-2. doi: 10.1007/s12185-012-1032-y. Epub 2012 Apr 4.
An elevated HbA(2) (α2δ2) level (>3.5%) is a well-established diagnostic test for heterozygous β-thalassemia. Mutations in the δ-globin gene can cause decreased expression of HbA(2), resulting in heterozygous β-thalassemia with normal levels of HbA(2). In this report, we describe a novel missense mutation in δ-globin (HBD: c.323G>A, Gly > Asp) in an Indian family with heterozygous β-thalassemia with normal HbA(2) levels.
HbA(2)（α2δ2）水平升高（>3.5%）是诊断杂合子β-地中海贫血的一项可靠诊断试验。δ-珠蛋白基因突变可导致 HbA(2)表达减少，从而导致 HbA(2)水平正常的杂合子β-地中海贫血。在本报告中，我们描述了一个印度家族中 HbA(2)水平正常的杂合子β-地中海贫血的δ-珠蛋白（HBD：c.323G>A，甘氨酸>天冬氨酸）的新型错义突变。
