Haemoglobinosis C/beta-thalassemia double heterozygosity in an Algerian patient with total suppression of haemoglobin a synthesis
Boreux, G.; Farquet, J.J.; Pugin, P.; Miescher, P.A.; Klein, D.
Journal de Genetique Humaine 26(1): 1-15
1978
ISSN/ISBN: 0021-7743 PMID: 670935 Document Number: 130303
The authors describe the case of a young Algerian, aged 32, suffering from mild icterus, accompanied by a marked splenomegaly. The blood count revealed a moderate degree of anaemia with reticulocytosis, pronounced anisocytosis, micro-spherocytes, bulls eye cells, folded cells, hypochrome cells, a marked polychromasia and a mild erythroblastosis. Present also were hyperbilirubinaemia, raised plasma haemoglobin, zero haptoglobin, a reduced osmotic fragility and half-life of erythrocytes. Haemoglobin electrophoresis showed 17.25% haemoglobin F, 62.8% haemoglobin C+A2 and no haemoglobin A. The genetic study indicated that the patient was a double heterozygote C/beta thalassaemia, his mother and his son both suffering from this disease. This thalassemic gene of type beta (0) totally inhibited the synthesis of haemoglobin A, the defect found in our patient.