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Double heterozygote hemoglobin D/B0 thalassemia. Report of 3 cases in a Portuguese family

Sousa Uva, L.; Fernandes, A.; Pilar, M.

Nouvelle Revue Francaise d'Hematologie 25(6): 387-390

1983

ISSN/ISBN: 0029-4810
PMID: 6664837
Document Number: 211966
The first Portuguese cases of a combination of Hb D and B0 thalassaemia are reported. The structure of the Hb variant was identified as Hb D Los Angeles, Punjab, Chicago, Portugal. The cases reported belong to one family living in the south of the country: a woman and her two sons. Twice, in two different generations, women with a Hb D gene, married men with B0 thalassaemia trait. The hypochromic and microcytic red cell morphology in the propositi have been the first abnormalities for subsequent investigations.

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