title: Clinical, haematological, and genetic studies of type 2 normal Hb A2 beta thalassaemia.
abstract: The clinical and haematological phenotype as well as chain synthesis data were studied in 35 doubly heterozygous patients with either normal Hb A2 and Hb F, type 2 beta thalassaemia and beta (high A2) thalassaemia (26 patients), or type 2 and other rare beta or delta beta variants (nine patients). Patients doubly heterozygous for type 2 and beta zero or delta beta zero thalassaemia variants had no detectable Hb A, indicating that the type 2 normal A2 beta thalassaemia is primarily the result of a beta zero gene. The clinical phenotype varied from severe thalassaemia major to mild thalassaemia intermedia, and was mainly related to the thalassaemia variant with which the type 2 normal A2 beta thalassaemia was combined, and the proportion of Hb A produced in beta + thalassaemia patients. Haematological and chain synthesis data were similar in heterozygotes with type 2 and beta zero or beta + (high A2) thalassaemia. Hb A2 levels were within the normal range (2.3 to 3.6%) though absolute values (Hb A2 per RBC) ranged from low normal (0.5 pg/RBC) to increased levels (1.0 pg/RBC.) The variation of Hb A2, as well as the presence of Hb A2 in a type 2/delta beta high F patient and the complete absence of HbA2 in a homozygous type 2 patient, indicate that there are at least two genotypes of type 2, one beta zero and the other delta beta zero. This has been recently proven by gene mapping studies. For clinicians, routine haematological and family studies are sufficient for the proper treatment and prevention of doubly heterozygous type 2 patients.
authors.affiliation: Department of Pediatrics, Athens University, St Sophie's Children's Hospital, Greece.
authors.forename: A
authors.initials: A
authors.lastname: Metaxotou-Mavromati
authors.forename: C
authors.initials: C
authors.lastname: Kattamis
authors.forename: L
authors.initials: L
authors.lastname: Matathia
authors.forename: M
authors.initials: M
authors.lastname: Tzetis
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis
mesh_terms: D001797:Blood Protein Electrophoresis; D005260:Female; D014644:Genetic Variation; D006441:Hemoglobin A / Q000235:genetics*; D006443:Hemoglobin A2 / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D006441:Hemoglobin A; D006443:Hemoglobin A2