Haemoglobin H Disease in an English Family.

Thalassaemia is a hereditary anaemia of widespread geographical distribution with marked variation in clinical severity. Morphological changes in the erythrocytes include microcytosis, anisopoikilocytosis, and the presence of target cells, while an increase in erythrocytic osmotic resistance is characteristic. The haemoglobin content of the erythrocytes is reduced and the present aetiological concept is that of a genetically determined defect in the rate of synthesis of normal Hb A a,32, (Ingram and Stretton, 1959). In the most frequent form there is a postulated defect of the beta-polypeptide chain synthesis, and this type (beta-thalassaemia) has been reported in English families (Callender, Mallett, and Lehmann, 1961). Less common is aipha-thalassaemia, in which a defect in alpha-chain synthesis is likely, and here, in addition to normal Hb A, there are found varying amounts of Hb H (,/4) and Hb Bart's (74), gamma chains being a normal constituent of foetal haemoglobin a2y72 The present report describes an English family which includes two brothers with haemolytic anaemia associated with the presence of haemoglobins H and Bart's, and the effect of splenectomy in one of these brothers.