Molecular Characterization of Thalassemia intermedia Associated with HPFH-6/β-Thalassemia and HPFH-6/Hb E in Thai Patients

Publisher： Karger

E-ISSN： 1421-9662|108|3|157-161

ISSN： 0001-5792

Source： Acta Haematologica, Vol.108, Iss.3, 2002-09, pp. : 157-161

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

We report the molecular and hematological characterizations of thalassemia caused by interactions of the hereditary persistence of fetal hemoglobin (HPFH)-6 with β-thalassemia in 2 Thai patients and the HPFH-6 with Hb E in another Thai patient. Marked hypochromic microcytosis, characteristics of thalassemia intermedia, were obvious in the former 2 cases but the latter had much milder clinical phenotype with normal Hb and a slightly reduced mean corpuscular volume (MCV) value. Hb analysis revealed no Hb A but Hb A₂F patterns in the compound HPFH-6/β-thalassemia patients and the EF pattern in the HPFH-6/Hb E patient. The ^Gγ-globin chain predominated in all cases. Globin gene analyses demonstrated that all patients carried the 101-kb HPFH-6 deletion in trans to the β-thalassemia genes with the IVS1#5 G–C mutation and the G insertion between codons 8/9 and the β^E-gene, respectively. Hematologic data of the patients were compared to those of the HPFH-6 heterozygotes found in their family members and different genotype-phenotype interactions of this HPFH determinant in these Thai patients are illustrated.