Compound heterozygote state for GgammaAgamma(deltabeta) degrees -thalassemia and hereditary persistence of fetal hemoglobin.

Abstract

We report a hitherto undescribed interaction of a deletional (deltabeta) degrees -thalassemia and a deletional hereditary persistence of fetal hemoglobin (HPFH) in an adult Thai individual. He was a 40-year-old Thai male who had the following hematologic data: Hb 13.9 g/dL, Hct 43.8%, MCV 78.0 fL, MCH 24.7 pg, MCHC 31.6 g/dL, and RDW 17.1%. Hemoglobin analysis revealed 97% Hb F with Ggamma-globin chain predominant. Globin gene analyses demonstrated that he carried the GgammaAgamma(deltabeta) degrees -thalassemia deletion in trans to the HPFH-6. Hematologic data of the patient were compared to those of the heterozygotes for these high-Hb F determinants found in his parents and an unrelated Thai patient with a compound HPFH-6/deletion-inversion Ggamma(Agammadeltabeta) degrees -thalassemia previously described.

• Authors: Supan Fucharoen, Sitthichai Panyasai, Satja Surapot, Goonnapa Fucharoen, Kanokwan Sanchaisuriya
• Journal: American journal of hematology (Am J Hematol) Vol. 80 Issue 2 Pg. 119-23 (Oct 2005) ISSN: 0361-8609 [Print] United States
• PMID: 16184575 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: (c) 2005 Wiley-Liss, Inc.

Chemical References

• Hemoglobins
• Fetal Hemoglobin

Topics

• Adult
• DNA Mutational Analysis
• Family Health
• Fetal Hemoglobin (genetics)
• Hemoglobins (analysis)
• Heterozygote
• Humans
• Inheritance Patterns
• Male
• Sequence Deletion
• Thailand
• beta-Thalassemia (genetics)