The results of the clinical and haematological investigation of the members of nine families having a minor haemoglobin variant, designated Hb‐Lepore, are presented. The abnormal haemoglobin has been found in the homozygous state (three cases) in combination with A2 thalassaemia (four cases) and in the heterozygous state (56 cases).
In one homozygous individual very high concentrations of HbF and complete absence of HbA and HbA2 were observed; Hb‐Lepore was found in small quantity (8.6 per cent). The haemoglobin studies of the second homozygous individual were performed shortly after transfusion; they showed the presence of HbA and HbA2. The third homozygote was not available for haemoglobin studies.
In the four double heterozygous individuals a high quantity of HbF and small amounts of the abnormal haemoglobin were found. In two of them the haemoglobin studies were performed 5 and 10 months after the last transfusion and the HbA and HbA2 were present in the quantity of 36 and 29 per cent, and 0.9 and 1.4 per cent, respectively.
The clinical and haematological picture in both the homozygous and double heterozygous individuals were indistinguishable from thalassaemia major, but they were more severe in the three homozygous individuals than in three of the four double heterozygous patients. In the fourth heterozygous patient the severity was similar to that seen in the homozygous state. The heterozygous carriers showed the presence of low amounts of Hb‐Lepore and HbF with an altered erythrocyte morphology resembling thalassaemia trait. The HbA2 concentration was somewhat lower than normal (mean value, 1.86 per cent).
Members of two Yugoslavian families were found to have δβ‐thalassaemia. Interaction of β‐thalassaemia with δβ‐thalassaemia occurred in two young children producing a clinical condition which is somewhat less severe than that of homozygous β‐thalassaemia. Results from biosynthetic analyses indicate that the degree of globin chain imbalance in double heterozygotes for β‐ and δβ‐thalassaemia is similar to that in homozygous β‐thalassaemia. Fetal haemoglobin of all heterozygotes contained Gγ and Aγ chains in an average ratio of about 2:3 whereas that in the two double heterozygotes had Gγ and Aγ chains in a ratio of 3:2.
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