[Hemoglobin C -- beta-thalassemia disease and homozygous beta-thalassemia in a black African family (author's transl)]. / Hémoglobine C -- beta-thalassémie et beta-thalassémie homozygote dans une famille Noire Africaine

ABSTRACT

The study of a Malian family has allowed to prove existence of two types of beta-thalassemia genes the beta0 gene which suppresses the synthesis of the beta chain into cis position and the beta+ gene which slows down only partially this synthesis. The difference between this two genes has been possible owing to the hemoglobin C found in this family and induced by the betaC mutated gene. The segregation of the four genes betaA, betaC, beta0 thal, and beta+ thal. has allowed to compare all the possible phenotypes deriving from the combinations by two of these allelic genes.