title: [The genes of human hemoglobins and their expression (author's transl)].
abstract: The present report reviews the knowledge on the structure of the genes coding for the various embryonic fetal and adult chains of normal human hemoglobins. The various molecular lesions found until now in alpha- and beta-thalassemias and also in hereditary persistance of fetal hemoglobin (HPHF). During the structural studies an unexpected DNA polymorphism has been detected. This polymorphism can be used in some cases of antenatal diagnosis either of sickle cell or of some thalassemias. The method developed can be applied to studies of population genetic.
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D004247:DNA / Q000096:biosynthesis; D005319:Fetal Hemoglobin / Q000235:genetics; D005838:Genotype; D006443:Hemoglobin A2 / Q000235:genetics; D006454:Hemoglobins / Q000235:genetics*; D006801:Humans; D006824:Hybridization, Genetic; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D011817:Rabbits; D013789:Thalassemia / Q000235:genetics; D014158:Transcription, Genetic
chemical_list: D006454:Hemoglobins; D004247:DNA; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin
vernacular_title: Les gènes de i'hémoglobine humaine et leur expression.