Galanello R, Furbetta M, Melis M A, Rosatelli C, Cao A
J Med Genet. 1981 Feb;18(1):40-2. doi: 10.1136/jmg.18.1.40.
An observation of suspected interaction of δβ- and α-thalassaemia, identified through careful examination of the family, is reported. The δβ-thalassaemia was of the usual type found in Sardinia, characterised by high Hb F levels and very low levels of glycine in the isolated γCB peptide. The haematological findings in the double δβ-/α-thalassaemia heterozygotes were: normal MCV and Hb A levels, increased Hb F (11·3 to 16·8%) heterogeneously distributed in red cells, and almost balanced α/β globin chain synthesis ratios.
本文报告了通过对一个家族的仔细检查发现的疑似δβ地中海贫血和α地中海贫血相互作用的观察结果。δβ地中海贫血为撒丁岛常见类型，其特征为Hb F水平高，分离出的γCB肽中甘氨酸水平极低。双重δβ/α地中海贫血杂合子的血液学检查结果为：平均红细胞体积（MCV）和Hb A水平正常，Hb F升高（11.3%至16.8%），在红细胞中分布不均，α/β珠蛋白链合成比例几乎平衡。
