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Molecular and hematological profiles of hemoglobin EE disease with different forms of α-thalassemia

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Abstract

We describe hematologic and DNA characterization of hemoglobin (Hb) E homozygote with various forms of α-thalassemia in Thai individuals. Altogether, 131 unrelated adult subjects with Hb EE at routine Hb analysis were studied. Forty-two cases were found to carry α-thalassemia with ten different genotypes. These included 21 cases with α+-thalassemia heterozygote (–α3.7/αα), one case with α+-thalassemia heterozygote (–α4.2/αα), six cases with Hb Constant Spring heterozygote (αCSα/αα), four cases with homozygous α+-thalassemia (–α3.7/–α3.7), one case with homozygous α+-thalassemia (–α4.2/–α4.2), two cases with compound α+-thalassemia/Hb Constant Spring (–α3.7/αCSα), one case with compound α+-thalassemia/Hb Paksé (–α3.7/αPSα), four cases with α0-thalassemia heterozygote (––SEA/αα), and, unexpectedly, two cases with compound α0-thalassemia/α+-thalassemia [(––SEA/–α3.7) and (––SEA/–α4.2)]. The hematological expression of these Hb E homozygotes with various forms of α-thalassemia was presented comparatively with those of the 89 cases of pure Hb E homozygotes. Overlapping levels of Hb E, Hb F, and other hematological parameters were observed which did not predict clinical severity, indicating a need for α-globin gene analysis for accurate diagnosis and improved genetic counseling.

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Acknowledgements

This work was supported by a grant from Khon Kaen University, Khon Kaen, Thailand. We thank Dr. Ian Thomas for helpful comments on the manuscript.

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Authors and Affiliations

  1. Centre for Research & Development of Medical Diagnostic, Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, 40002, Thailand

    Goonnapa Fucharoen, Jaruwan Trithipsombat, Suparerk Sirithawee, Supawadee Yamsri, Kanokwan Sanchaisuriya & Supan Fucharoen

  2. Clinical Microscopy Unit, Srinagarind Hospital, Khon Kaen University, Khon Kaen, 40002, Thailand

    Yossombat Changtrakul

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  1. Goonnapa Fucharoen
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  2. Jaruwan Trithipsombat
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Correspondence to Supan Fucharoen.

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Fucharoen, G., Trithipsombat, J., Sirithawee, S. et al. Molecular and hematological profiles of hemoglobin EE disease with different forms of α-thalassemia. Ann Hematol 85, 450–454 (2006). https://doi.org/10.1007/s00277-006-0093-5

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  • DOI: https://doi.org/10.1007/s00277-006-0093-5

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