Study of Nine Families with Haemoglobin‐Lepore

Abstract

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).

Haemoglobin Lepore_Baltimore in a Spanish Family

“…The levels of Hb Lepore in the family we studied are sim ilar to those de scribed by Ostertag and Smith [5], but a little higher than those reported by Efre mov et al [2] in their 3 heterozygous cases, and by Duma et al [1] in patients with Hb LeporeBoston-The three varieties of Hb Le pore described so far present common electrophoretic and chrom atographic properties. The only way to reach a differ ential diagnosis is through prim ary struc tural study o f the globin chains.…”

Hemoglobin Beograd (α₂<i>β</i>₂121 Glu→Val) Interacting with <i>β</i>-Thalassemia

“…The most common is Hb Lepore. This variant has been found in homozygous and heterozygous state, and also in combination with /1-thalassemia [3].…”

Thalassaemias and Abnormal Haemoglobins in SR Macedonia

“…The anomaly has also been found in 3 children of Albanian origin [19]. Most of the patients were found to be homozygotes for ^-thalassaemia (A2-thalassaemia) [4,19],a few were double heterozygous for /?-thalassaemia and for Hb Lepore, some were homozygous for Hb Lepore [2], while one patient was diagnosed as a Hb H-thalassaemia disease [5]. The present study was undertaken in order to obtain more information on the frequency and distribution of the various thalassaemia types and other haemoglobinopathies in SR Macedonia.…”