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Fanconi's anaemia: case history of six Spanish families

Casado, A.; De La Torre, R.; Cantalejo, A.; Ramos, M.; Carrascosa, D.; López-Fernandez, E.

Bratislavske Lekarske Listy 98(3): 135-136

1997

ISSN/ISBN: 0006-9248
PMID: 9226464
Document Number: 474907
We report on the results obtained in 6 Fanconi's anaemia families (FA) (parents, brothers and sisters) affected by at least one of the symptoms usually observed in FA. The 6 FA families were studied from 1974 to 1990, all having located in Madrid (Spain) but with different ethnic origin: 3 families are of Spanish descent and the other 3 are gipsy families. All showed characteristics of the disease, including malformations, stunted growth, microcephaly, skin hyperpigmentation, high incidence of chromosomal breaks in lymphocyte cultures, and hematological and biochemical abnormalities: pancytopeny, increased fetal hemoglobin levels and significantly decreased superoxide dismutase (SOD) activity. (Ref. 17.)

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