title: [Hemoglobin C -- beta-thalassemia disease and homozygous beta-thalassemia in a black African family (author's transl)].
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.
mesh_terms: D000483:Alleles; D044383:Black People; D005260:Female; D006444:Hemoglobin C; D006801:Humans; D008297:Male; D008302:Mali; D010375:Pedigree; D010641:Phenotype; D011995:Recombination, Genetic; D013789:Thalassemia / Q000235:genetics*
chemical_list: D006444:Hemoglobin C
vernacular_title: Hémoglobine C -- beta-thalassémie et beta-thalassémie homozygote dans une famille Noire Africaine