Molecular and hematological characterization of HPFH-6/Indian deletion-inversion Ggamma(Agammadeltabeta)0-thalassemia and Ggamma(Agammadeltabeta)0-thalassemia/HbE in Thai patients.
The hereditary persistence of fetal hemoglobin (HPFH)-6 is sporadically found in Thailand whereas the deletion-inversion type (G)gamma((A)gamma delta beta)(0)-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 (G)gamma-globin chain. Globin gene analyses demonstrated that he carried the HPFH-6 deletion in trans to the Indian deletion-inversion (G)gamma((A)gamma delta beta)(0)-thalassemia. Hematologic data of the patient was compared to those of the HPFH-6 heterozygote found in his father, to (G)gamma((A)gamma delta beta)(0)-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 (G)gamma((A)gamma delta beta)(0)-thalassemia and HbE.
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D007446:Chromosome Inversion; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D013785:Thailand / Q000453:epidemiology; D017086:beta-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D006446:Hemoglobin E; D005319:Fetal Hemoglobin