Simpkins H, Hill A V, Derry S, Clegg J B, Weatherall D J
Br J Haematol. 1986 May;63(1):7-15. doi: 10.1111/j.1365-2141.1986.tb07489.x.
Members of a Cambodian family with an undiagnosed hypochromic, microcytic anaemia were found by haemoglobin and DNA analysis to have five interacting globin gene abnormalities. One child has Hb E and typical Hb H disease, while his mother has the form of Hb H disease associated with Hb Constant Spring interacting with Hb E. Quantitation of Hbs E and A2 by globin chain separation and triton/urea gel electrophoresis support the concept that Hb H/Constant Spring disease is a more severe form of alpha thalassaemia than Hb H disease. This family illustrates how the remarkably high prevalence of globin gene abnormalities in Southeast Asians can give rise to a series of atypical thalassaemic phenotypes, and how they can be defined by direct globin gene analysis.
通过血红蛋白和DNA分析发现，一个患有未确诊的低色素小细胞贫血的柬埔寨家族成员有5种相互作用的珠蛋白基因异常。一个孩子患有Hb E和典型的Hb H病，而他的母亲患有与Hb Constant Spring相互作用并与Hb E相关的Hb H病形式。通过珠蛋白链分离和Triton/尿素凝胶电泳对Hb E和A2进行定量分析，支持了Hb H/Constant Spring病是比Hb H病更严重的α地中海贫血形式这一概念。这个家族说明了东南亚人中珠蛋白基因异常的显著高患病率如何导致一系列非典型的地中海贫血表型，以及如何通过直接的珠蛋白基因分析来定义它们。
