Shahid M J, Khouri F P, Sahli I F
J Med Genet. 1974 Sep;11(3):275-9. doi: 10.1136/jmg.11.3.275.
A family is described in which four sibs are affected with haemoglobin H disease. To our knowledge, this is the first instance where this disorder has been encountered in the Lebanon. In fact only a few cases have so far been reported from the Arab world. All four sibs had typical haemoglobin H bands on electrophoretic examination, and characteristic intracorpuscular inclusion bodies were demonstrated in a variable proportion of their erythrocytes, as well as in cells from a younger sib and from the mother. The latter also had elevation of the Hb-A2 fraction, and it is suggested that the above family has a combination of α- and -thalassaemia.
本文描述了一个家庭，其中四个兄弟姐妹患有血红蛋白H病。据我们所知，这是黎巴嫩首次遇到这种疾病。事实上，迄今为止阿拉伯世界仅报道了少数病例。所有四个兄弟姐妹在电泳检查中均有典型的血红蛋白H条带，并且在其不同比例的红细胞中以及来自一个年幼兄弟姐妹和母亲的细胞中均发现了特征性的细胞内包涵体。母亲的血红蛋白A2分数也有所升高，提示上述家庭存在α地中海贫血和β地中海贫血的合并情况。
