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Study of Nine Families with Haemoglobin‐Lepore
Author(s) -
Duma H.,
Efremov G.,
Sadikario A.,
Teodosijev D.,
Mladenovski B.,
Vlaški R.,
Andreeva M.
Publication year - 1968
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1968.tb01525.x
Subject(s) - heterozygote advantage , medicine , fetal hemoglobin , gastroenterology , pediatrics , genetics , biology , allele , pregnancy , fetus , gene
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 A 2 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 HbA 2 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 HbA 2 . 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 HbA 2 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 HbA 2 concentration was somewhat lower than normal (mean value, 1.86 per cent).