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

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Abstract

We describe the hematological and DNA characterization of hemoglobin (Hb) E heterozygote with various forms of α-thalassemia in Thai individuals. Altogether, 202 unrelated adult subjects with Hb E heterozygotes either with or without α-thalassemia determinant were studied. The most prevalent interaction was found to be a double heterozygote for Hb E/α-thalassemia 2, followed by a double Hb E/α-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 α-thalassemia 2 and Hb E with a compound α-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 α-thalassemia 1/α-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 α-thalassemia. The hematological expression of these Hb E heterozygotes with various forms of α-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.

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Acknowledgements

This work was supported by grants from the National Science and Technology for Development Agency (NSTDA) and the Khon Kaen University, Khon Kaen, Thailand. We thank Dr. Pattara Sanchaisuriya for help with the statistical analysis and Dr. Ian Thomas for helpful comments on the manuscript.

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Correspondence to S. Fucharoen.

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Sanchaisuriya, K., Fucharoen, G., Sae-ung, N. et al. Molecular and hematologic features of hemoglobin E heterozygotes with different forms of α-thalassemia in Thailand. Ann Hematol 82, 612–616 (2003). https://doi.org/10.1007/s00277-003-0689-y

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  • DOI: https://doi.org/10.1007/s00277-003-0689-y

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