Effect of Swiss-type heterocellular HPFH from XmnI-Gγ and HBBP1 polymorphisms on HbF, HbE, MCV and MCH levels in Thai HbE carriers
| Autor: | Sasiwan Kerdpoo, Thanusak Tatu, Ektong Limweeraprajak |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Adult
Heterozygote Adolescent beta-Globins Young Adult Asian People Humans gamma-Globins Allele Child Chromatography High Pressure Liquid Fetal Hemoglobin Aged Elevated HbF Polymorphism Genetic Chemistry Hemoglobin E beta-Thalassemia Heterozygote advantage Hematology Middle Aged Virology Molecular biology Phenotype Child Preschool Erythrocyte Count |
| Zdroj: | International Journal of Hematology. 99:338-344 |
| ISSN: | 1865-3774 0925-5710 |
| DOI: | 10.1007/s12185-014-1516-z |
| Popis: | Relationships of Swiss-type heterocellular HPFH as functions of XmnI-(G)γ and HBBP1:rs2071348 polymorphisms and HbF, HbE, MCV and MCH in HbE carriers were evaluated in 52 non-anemic and α-thalassemia-free Thai HbE carriers. HbF and HbE levels were measured using cation-exchange HPLC. MCV and MCH were determined using an automated blood counter. The XmnI-(G)γ polymorphism was identified by XmnI digestion of amplified products, and the HBBP1:rs2071348 polymorphism by tetra-ARMS-PCR. HbF levels in HbE carriers were higher than those in normal individuals. HbF levels >0.8 % indicated the Swiss-type heterocellular HPFH in these subjects, rendering a prevalence of 40.4 %. The XmnI-(G)γ (+) and HBBP1:rs2071348 (C) alleles were modestly positively correlated with elevated HbF, elevated MCH and lowered HbE values. This study thus confirms the influence of the XmnI-(G)γ and HBBP1:rs2071348 polymorphisms on HbF production. The present study demonstrates the association of XmnI-(G)γ and HBBP1:rs2071348 with HbF, HbE, MCV and MCH in HbE carriers for the first time, and highlights the effect of elevated HbF production on HbE levels. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink