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Publication
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| Title of Article |
Variability of hemoglobin F expression in hemoglobin EE disease: hematological and molecular analysis |
| Date of Acceptance |
26 February 2014 |
| Journal |
| Title of Journal |
Blood Cells, Molecules and Diseases |
| Standard |
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| Institute of Journal |
Elsevier |
| ISBN/ISSN |
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| Volume |
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| Issue |
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| Month |
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| Year of Publication |
2014 |
| Page |
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| Abstract |
Although themolecular basis of variability of hemoglobin (Hb) F has been extensively examined in β-thalassemia
and sickle cell diseases, less study has been done on Hb E disorder. To address the variability of Hb F expression in
Hb EE disease,we have examined multiple single nucleotide polymorphisms (SNPs) in the β-globin gene cluster,
BCL11A and HBS1L-MYB genes and determined their associations with Hb F levels in this syndrome. Study was
done on 141 adult Thai individuals with homozygous Hb E. Hematological parameters were recorded and Hb F
measured using Hb-HPLC analyzer. It was found in 26 cases that co-inheritance of α-thalassemia could lead to
significant lower production of Hb F. Association of Hb F expression with the Gγ-Xmn I polymorphismand
other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393
and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. It
was found that 4 of these 7 SNPs including Gγ-XmnI polymorphism (rs7482144), HBS1L-MYB (rs4895441) and
(rs9399137) and BCL11A (rs4671393) were significantly associated with higher proportions of subjects with
high Hb F (Hb F ≥ 5%). The result demonstrated that multiple genetic modifying factors including T allele of
Gγ-XmnI polymorphism (rs7482144), G allele of HBS1L-MYB (rs489441), C allele of HBS1L-MYB (rs9399137)
and C allele of BCL11A (rs4671393) are associated with increased Hb F and in combination could explain
approximately 80% of the variation of Hb F in Hb EE disease in Thai population. Other genetic factors regulating
Hb F expression in this common genetic disorder remains to be elucidated. |
| Keyword |
Genetic modifying factors Homozygous Hb E Hb F BCL11A polymorphism HBS1L-MYB polymorphism Gγ-XmnI polymorphism |
| Author |
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| Reviewing Status |
มีผู้ประเมินอิสระ |
| Status |
ได้รับการตอบรับให้ตีพิมพ์ |
| Level of Publication |
นานาชาติ |
| citation |
false |
| Part of thesis |
true |
| Attach file |
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| Citation |
0
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Journal Publication
ไทย