Molecular and hematological characterization of HPFH-6/Indian deletion-inversion Ggamma(Agammadeltabeta)0-thalassemia and Ggamma(Agammadeltabeta)0-thalassemia/HbE in Thai patients.

Abstract

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.

• Authors: Supan Fucharoen, Yutthana Pengjam, Satja Surapot, Goonnapa Fucharoen, Kanokwan Sanchaisuriya
• Journal: American journal of hematology (Am J Hematol) Vol. 71 Issue 2 Pg. 109-13 (Oct 2002) ISSN: 0361-8609 [Print] United States
• PMID: 12353310 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2002 Wiley-Liss, Inc.

Chemical References

• Hemoglobins, Abnormal
• Hemoglobin E
• Fetal Hemoglobin

Topics

• Adolescent
• Adult
• Child, Preschool
• Chromosome Inversion
• DNA Mutational Analysis
• Family Health
• Female
• Fetal Hemoglobin (genetics)
• Hemoglobin E (genetics)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• Male
• Phenotype
• Thailand (epidemiology)
• beta-Thalassemia (genetics)