Amin A B, Pandya N L, Diwin P P, Darbre P D, Kattamis C, Metaxatou-Mavromati A, White J M, Wood W G, Clegg J B, Weatherall D J
Br J Haematol. 1979 Dec;43(4):537-48. doi: 10.1111/j.1365-2141.1979.tb03786.x.
One Arabic and two Indian patients with thalassaemia intermedia produce only Hb F for the G gamma type. Haemoglobin synthesis studies and genetic analysis indicate that they are homozygous for G gamma delta beta thalassaemia. The findings in these patients and their heterozygous relatives are compared with those in an individual homozygous for G gamma A gamma delta beta thalassaemia. From this analysis, and from previously reported data on G gamma A gamma delta beta thalassaemia, the phenotypic expression of the two varieties of delta beta thalassaemia is defined. The relationship between the clinical expression and molecular pathology of these forms of delta beta thalassaemia is discussed.
三名中间型地中海贫血患者（一名阿拉伯患者和两名印度患者）仅产生Gγ型的Hb F。血红蛋白合成研究和基因分析表明，他们为Gγδβ地中海贫血纯合子。将这些患者及其杂合子亲属的研究结果与一名GγAγδβ地中海贫血纯合子个体的结果进行了比较。通过该分析以及先前报道的关于GγAγδβ地中海贫血的数据，确定了两种δβ地中海贫血的表型表达。讨论了这些类型的δβ地中海贫血的临床表达与分子病理学之间的关系。
