title: [Beta(o)/beta(o) thalassemia with a mild phenotype].
abstract: We report the case of a 30 years old patient of Algerian origin, presenting a beta-thalassemia major with a phenotype of intermediate severity. Its genotype is beta(o)/beta(o), leading to a complete absence of beta-globin synthesis. This genotype is usually responsible for major clinical complications and a severe anaemia requiring regular transfusions. However, the patient presents with a mild form of the disease and a moderate relatively well tolerated anaemia. This phenotype was found related to a high level of synthesis of foetal haemoglobin, dependent most probably on an homozygous state for the polymorphism (XmnI -158, C>T) in the promoter of the Ggamma gene. This observation shows that it is important to keep in mind that beta-thalassemia major may have a mild or intermediate phenotype because of polymorphisms of the beta locus.
authors.affiliation: Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Roger Salengro, CHRU, Lille.
authors.forename: C
authors.initials: C
authors.lastname: Hémar
authors.forename: O
authors.initials: O
authors.lastname: Nibourel
authors.forename: P
authors.initials: P
authors.lastname: Maboudou
authors.forename: C
authors.initials: C
authors.lastname: Méreau-Richard
authors.forename: C
authors.initials: C
authors.lastname: Badens
authors.forename: J
authors.initials: J
authors.lastname: Rousseaux
authors.forename: C
authors.initials: C
authors.lastname: Rose
mesh_terms: D000328:Adult; D001772:Blood Cell Count; D001803:Blood Transfusion; D005319:Fetal Hemoglobin / Q000235:genetics; D005914:Globins / Q000172:deficiency*; D006801:Humans; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: D005914:Globins; D005319:Fetal Hemoglobin