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Double heterozygosis for hemoglobin C-beta thalassemia: description of a Spanish family. Hemoglobin C-beta thalassemia in a Spanish family.
Clin Genet ; 13(3): 265-70, 1978 Mar.
Article em En | MEDLINE | ID: mdl-639336
A spanish family is described with two abnormal genes: 1) hemoglobin C in heterozygosis with normal hemoglobin, introduced by the subject's mother, and 2) heterozygotic betathalassemia for which the father is a carrier. In the subject and his sister, both abnormal genes coincide with the presence of hemoglobin C and hemoglobin F, simulating homozygosis for hemoglobin C. The clinical condition shows medium intensity chronic hemolysis. In the subject's brother, mother and grandmother, simple heterozygosis of hemoglobins A-C is seen, with no apparent clinical manifestations. The father shows subjaundice with some acute hemolytic episodes. Hypotheses are discussed which might explain the presence of these hemoglobins in Spain.
Assuntos
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Base de dados: MEDLINE Assunto principal: Talassemia / Hemoglobina C / Hemoglobinúria / Heterozigoto Limite: Adolescent / Child, preschool / Female / Humans / Male País como assunto: Europa Idioma: En Ano de publicação: 1978 Tipo de documento: Article
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Base de dados: MEDLINE Assunto principal: Talassemia / Hemoglobina C / Hemoglobinúria / Heterozigoto Limite: Adolescent / Child, preschool / Female / Humans / Male País como assunto: Europa Idioma: En Ano de publicação: 1978 Tipo de documento: Article