β-Intermediate Thalasemia: triplication of genes α / β thalassemia heterozygous in Spain

Objectives. Check with hematological data that the diagnosis and clinical grade of β-thalassemia intermedia can be established when a triplication genes alpha (αααanti 3.7) heterozygous are coherent. Methods. Retrospective study in which 73 patients Caucasian origin participated, who simultaneously showed tripling or quadrupling α β-thalassemia. Screening for most frequent α-thalassemia mutations, as well gene was carried out by multiplex PCR followed reverse hybridization confirmed MLPA. The molecular automatic sequencing according to Sanger’s method. Results. Genotypes have been classified into three groups number α-globin severity alteration β-globin gene. All had mutation (β0-thalassemia, severe β+-thalassemia, mild β+-thalassemia). Group I inherited 6 globin genes. II group III 5 In III, were carriers mutations affecting β δ significant parameters hemoglobin levels, mean corpuscular volume, red deep width, percentage fetal hemoglobin. Conclusions. I, genes, either homozygous (ααα/ααα) quadruplication (αααα/αα), results moderate anemia may require transfusion therapy, being would determine variation. behaved phenotypically like thalassemia intermedia. Finally, thalassemic trait since all increase overexpression g