Effect of the XmnI-Gу polymorphism on HbE and red blood cell parameters of Hb E carriers with and without SEA-α thalassemia 1
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Abstract
Backgroud: XmnI-Gg polymorphism has been found to be the major cis-acting factor responsible to increased g-globin gene activation and closely linked to HbE. It was expected that this polymorphism might modify the HbE and RBC indices in HbE carriers.
Objectives: To determine the effect of the XmnI-Gg polymorphism on RBC indices and HbE levels in single HbE carriers and double HbE/SEA-a thalassemia 1 carriers.
Materials and methods: The studied samples comprised 160 EDTA blood collected from routine Hemoglobin Typing Laboratories of Swan Pracharak Hospital and Lampang Regional Hospital. The XmnI-Gg polymorphism was determined by the PCR-RFLP analysis. The SEA-a thalassemia 1 was genotyped by Gap-PCR. HbE level was determined by cation-exchange HPLC, and RBC indices by automated hematology analyzer. Mann-Whitney U test was computed to analyze the data with p-value of less than 0.05 considered to be statistically significant.
Results: The prevalence of the XmnI-Gg (+/+) was 13.9% and 6.3%, of the XmnI-Gg (+/-) was 66.0%, 81.3%, and of the XmnI-Gg (-/-) was 20.1% and 12.5% in the single HbE carriers and double HbE/SEA-a thalassemia carriers, respectively. Presence of the XmnI-Gg site did not affect HbE and RBC indices in both single HbE carriers and double HbE/SEA-a thalassemia 1 carriers.
Conclusion: XmnI-Gg polymorphism did not effect the RBC indices and HbE levels in HbE carriers. It was not the confounding factor to be concerned when considering RBC parameters in screening for HbE/SEA-a thalassemia 1 double carriers and can be ignored.
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