Molecular characterization of Hb D-Punjab [beta121(GH4)Glu-->Gln] in Thailand.

Abstract

We describe the hematological and DNA characterization of Hb D-Punjab [beta121(GH4)Glu-->Gln] in Thailand. Nine patients from five unrelated families were studied; four patients were simple carriers of Hb D-Punjab, two were compound heterozygotes for Hb D-Punjab/beta+-thalassemia; another two patients were double heterozygotes for Hb D-Punjab and alpha-thalassemia-2, and one patient was a compound heterozygote for Hb D-Punjab and Hb E [beta26(B8)Glu-->Lys]. Typical thalassemic indices with hypochromic microcytosis were observed in compound Hb D-Punjab/ beta+-thalassemia and Hb D-Punjab/Hb E but normal hematological profiles were observed in the remaining cases. DNA sequencing of the beta-globin gene identified the GAA-->CAA substitution at codon 121 causing Hb D-Punjab in all cases, and the -28 (A-->G) mutation for the beta+-thalassemia alleles. beta-Globin gene haplotype analysis demonstrated, for the first time, that all these Asian beta(D-Punjab) globin genes were associated with haplotype [-++-+++], previously undescribed in other populations. The finding of Hb D-Punjab in Thailand is compatible either with an independent origin of this abnormal hemoglobin or a spread of the Hb D-Punjab gene with a single origin among Asians.

• Authors: Supan Fucharoen, Yossombat Changtrakun, Sutja Surapot, Goonnapa Fucharoen, Kanokwan Sanchaisuriya
• Journal: Hemoglobin (Hemoglobin) Vol. 26 Issue 3 Pg. 261-9 (Aug 2002) ISSN: 0363-0269 [Print] England
• PMID: 12403491 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin D Punjab

Topics

• DNA Mutational Analysis
• Family Health
• Female
• Haplotypes (genetics)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• Male
• Mutation, Missense
• Point Mutation
• Thailand