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Compound heterozygote state for G γ A γ(δβ)°‐thalassemia and hereditary persistence of fetal hemoglobin
Author(s) -
Fucharoen Supan,
Panyasai Sitthichai,
Surapot Satja,
Fucharoen Goonnapa,
Sanchaisuriya Kanokwan
Publication year - 2005
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.20426
Subject(s) - compound heterozygosity , thalassemia , heterozygote advantage , fetal hemoglobin , hemoglobin , globin , hemoglobinopathy , fetus , genetics , hemolytic anemia , medicine , biology , gene , mutation , genotype , pregnancy
We report a hitherto undescribed interaction of a deletional (δβ)°‐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 G γ‐globin chain predominant. Globin gene analyses demonstrated that he carried the G γ A γ(δβ)°‐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 G γ( A γδβ)°‐thalassemia previously described. Am. J. Hematol. 80:119–123, 2005. © 2005 Wiley‐Liss, Inc.