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Hb C homozygosity and double Hb C/beta + thalassemia heterozygosity in a Spanish family

De Pablos, J.M.; Almagro, M.; Cabrera, A.; López, P.

Sangre 32(3): 372-381

1987

ISSN/ISBN: 0036-4355
PMID: 3660177
Document Number: 303596
A gipsy patient was studied for jaundice and splenomegaly. The haematological studies disclosed a picture of chronic haemolytic disease. The haemoglobin electrophoresis on cellulose acetate at pH 8.6 presented a single haemoglobin band of slow mobility located on the HbA2 zone. The structural and immunologic studies of such haemoglobin showed a homozygous C haemoglobin. The family study allowed us to find other members with heterozygous HbC plus two identical twins carrying double HbC/.beta.+ thalasaemia heterozygosity. The analytical data and the molecular and epidemiological data of this mutation are commented.

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