Molecular and hematologic features of hemoglobin E heterozygotes with different forms of alpha-thalassemia in Thailand.

Abstract

We describe the hematological and DNA characterization of hemoglobin (Hb) E heterozygote with various forms of alpha-thalassemia in Thai individuals. Altogether, 202 unrelated adult subjects with Hb E heterozygotes either with or without alpha-thalassemia determinant were studied. The most prevalent interaction was found to be a double heterozygote for Hb E/alpha-thalassemia 2, followed by a double Hb E/alpha-thalassemia 1 and a Hb E/Hb Constant Spring (CS), even though the Hb CS was not detected. Double heterozygotes for Hb E and homozygous alpha-thalassemia 2 and Hb E with a compound alpha-thalassemia 2/Hb CS were also encountered with lower frequencies. Unexpectedly, as many as 18 cases previously diagnosed as Hb E carriers at routine Hb analysis were indeed Hb E heterozygotes with compound alpha-thalassemia 1/alpha-thalassemia 2, indicating a need for globin genotyping for accurate diagnosis. A change in Hb E level was observed which was related to a concomitant inheritance of alpha-thalassemia. The hematological expression of these Hb E heterozygotes with various forms of alpha-thalassemia, including a hitherto undescribed condition of double heterozygosity for Hb E/Hb Paksé identified in two subjects, is presented comparatively with those of the 80 cases of pure Hb E carriers. A multiplex allele-specific polymerase chain reaction (PCR) assay for simultaneous detection of Hb E and Hb CS genes is also described.

• Authors: K Sanchaisuriya, G Fucharoen, N Sae-ung, A Jetsrisuparb, S Fucharoen
• Journal: Annals of hematology (Ann Hematol) Vol. 82 Issue 10 Pg. 612-6 (Oct 2003) ISSN: 0939-5555 [Print] Germany
• PMID: 12955472 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• Globins
• DNA
• Hemoglobin E

Topics

• Adult
• Alleles
• DNA (analysis, genetics)
• Gene Expression Regulation
• Genotype
• Globins (biosynthesis, genetics)
• Hemoglobin E (genetics)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Homozygote
• Humans
• Phenotype
• Polymerase Chain Reaction (methods)
• Sequence Analysis, DNA
• Thailand
• alpha-Thalassemia (blood, diagnosis, genetics)