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Changes in hematological parameters in α‐thalassemia individuals co‐inherited with erythroid Krüppel‐like factor mutations
Author(s) -
Yu L.H.,
Liu D.,
Cai R.,
Shang X.,
Zhang X.H.,
Ma X.X.,
Yan S.H.,
Fang P.,
Zheng C.G.,
Wei X.F.,
Liu Y.H.,
Zhou T.B.,
Xu X.M.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12443
Subject(s) - thalassemia , mean corpuscular volume , mean corpuscular hemoglobin , medicine , allele , genotype , mean corpuscular hemoglobin concentration , fetal hemoglobin , phenotype , genetics , hemoglobin , immunology , biology , gene , fetus , pregnancy
Phenotypic variations in α‐thalassemia mainly depend on the defective α‐globin gene number. Genetic modifiers of the phenotype of Hemoglobin H ( HbH ) disease were poorly reported, apart from β‐thalassemia allele that was identified ameliorating the severity of α‐thalassemia. Because erythroid Krüppel‐like factor ( KLF1 ) mutations can modulate the red blood phenotype, we evaluated its effect on the α‐thalassemia phenotype. Overall, we identified 72 subjects with five different KLF1 heterozygous mutations in 1468 individuals, including 65 out of 432 α‐thalassemia carriers with fetal hemoglobin ( HbF ) levels ≥1%, 0 out of 310 carriers with HbF levels <1% and 7 out of 726 HbH disease patients. We firstly established the link between KLF1 mutations and relatively elevated hemoglobin A 2 ( HbA 2 ) and HbF levels, along with lower mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) values in a group of α‐thalassemia carriers. However, we concluded that KLF1 mutations were not significantly linked to HbH disease severity. On the basis of HBA or HBB genotype and gender, clinical severity of patients with HbH disease was correctly predicted in 73.3% cases. It may improve the screening and diagnostic assessment of α‐thalassemia.