Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation

SATTA, STEFANIA;PAGLIETTI, MARIA ELISABETTA;Sollaino, Maria Carla;Barella, Susanna;MOI, PAOLO;Desogus, Maria Franca;DEMARTIS, FRANCA ROSA;MANUNZA, LAURA;ORIGA, RAFFAELLA

2017-01-01

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Abstract

alpha-thalassemia carriers are common in Mediterranean regions, particularly in the Sardinian population. Their haematological phenotype is characterized by reduced MCV and/or MCH with normal or slightly reduced HbA2 levels and normal HbF. KrDppel-like factor 1 (KLF1) is a pleiotropic erythroid transcription factor that is essential for haematopoiesis. Mutations in the KLF1 gene trigger a series of benign human red blood phenotypes, such as an increase in HbA2 and HBF. Recently, it has been found that KLF1 mutations were a frequent cause of borderline HbA2 levels in a group of Sardinian subjects. Here, we found that KLF1 mutations modulate the phenotype in a cohort of a-thalassemia carriers