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.
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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)
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Copyright | Copyright 2002 Wiley-Liss, Inc. |
Chemical References |
- Hemoglobins, Abnormal
- Hemoglobin E
- Fetal Hemoglobin
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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)
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