KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia

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KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia.

Mutations in human Krüppel-like factor 1 (KLF1) have recently been reported to be responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2). Because increased HbF and HbA2 levels are important features of β-thalassemia, we examined whether there is any relationship between KLF1 mutation and β-thalassemia in China. To do this, we first studied the incidence of KLF1 mutations in 2...

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Erythroid Krüppel-like factor mutations are relatively more common in a thalassemia endemic region and ameliorate the clinical and hematological severity of β-thalassemia

Mutations in human Krüppel-like factor 1 (KLF1) have recently been reported to be responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2). As increased HbF and HbA2 levels are important features of β-thalassemia, we examined whether there is any relationship between KLF1 mutation and β-thalassemia in China. For this, we first studied the incidence of KLF1 mutations in two Chin...

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Spectrum of β-thalassemia Mutations in Iran, an Update

Abstract β-thalassemia major (β –TM) is the most common thalassemia severe phenotype among Iranians. In recent years, molecular understanding of pathogenesis of β –TM has provided a great opportunity regarding diagnostic issues. Creating comprehensive molecular databases provides highly sensitive diagnostic tools for β –TM and effective prenatal diagno...

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The spectrum of β-thalassemia mutations in the Arab populations

The Arab countries encompass a wide region stretching from the Persian Gulf to the Atlantic Ocean. The Arab population is quite heterogeneous and has experienced various invasions and migrations throughout history. beta-thalassemia is endemic in all countries of the Arab world. Our review of the molecular basis of beta-thalassemia in various Arab countries reveals the presence of 52 mutations, ...

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β-Thalassemia Mutations among Transfusion-Dependent Thalassemia Major Patients in Northern Iraq

Molecular defects responsible for β-thalassemias (thal) were investigated among 254 chromosomes from 127 transfusion-dependent unrelated thalassemic patients from two provinces in Northern Iraq. Among fourteen identified mutations, the seven most common found in 88.2% of the thal chromosomes were: IVS-II-1 (G → A), IVS-I-1 (G → A), codon 8 (-AA), codon 39 (G → T), codon 8/9 (+G), codon 44 (-C),...

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ژورنال

عنوان ژورنال: Blood

سال: 2014

ISSN: 0006-4971,1528-0020

DOI: 10.1182/blood-2014-03-561779