Molecular and hematological characterization of HPFH-6/indian deletion-inversion Gγ(Aγδβ)O -Thalassemia and Gγ(Aγδβ)O -thalassemia/HbE in Thai patients

Abstract

The hereditary persistence of fetal hemoglobin (HPFH)-6 is sporadically found in Thailand whereas the deletion-inversion type Gγ(Aγδβ)O-thalassemia is described among Indians. We report a hitherto un-described case in which these two defects co-segregate. He was a 3-year-old Thai boy who had a feature of thalassemia intermedia phenotype with the following hematologic data; Hb 8.8 g/dL, Hct 29.2%, MCV 66.9 fL, MCH 20 pg, and MCHC 30.1 g/dL. Hemoglobin analysis revealed 100% Hb F with only Gγ-globin chain. Globin gene analyses demonstrated that he carried the HPFH-6 deletion in trans to the Indian deletion-inversion Gγ(Aγδβ)0 -thalassemia. Hematologic data of the patient was compared to those of the HPFH-6 heterozygote found in his father, to Gγ(Aγδβ)O-thalassemia heterozygotes detected in his mother and sister, and to that of an unrelated Thai patient who was a compound heterozygote for the deletion-inversion Gγ(Aγδβ)O-thalassemia and HbE. © 2002 Wiley-Liss, Inc.