Compound heterozygote state for GgammaAgamma(deltabeta) degrees -thalassemia and hereditary persistence of fetal hemoglobin.
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.
Fucharoen
Supan
S
Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand. supan@kku.ac.th
Panyasai
Sitthichai
S
Surapot
Satja
S
Fucharoen
Goonnapa
G
Sanchaisuriya
Kanokwan
K
D000328:Adult; D004252:DNA Mutational Analysis; D005192:Family Health; D005319:Fetal Hemoglobin / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D017384:Sequence Deletion; D013785:Thailand; D017086:beta-Thalassemia / Q000235:genetics*
D006454:Hemoglobins; D005319:Fetal Hemoglobin