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

Blood Cells Mol Dis. 2017 May:64:30-32. doi: 10.1016/j.bcmd.2017.03.007. Epub 2017 Mar 18.

Abstract

α-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. Krüppel-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 α-thalassemia carriers.

Keywords: Hematological phenotype; KLF1; Screening; α-thalassemia trait.

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Fetal Hemoglobin* / genetics
  • Fetal Hemoglobin* / metabolism
  • Hemoglobin A2* / genetics
  • Hemoglobin A2* / metabolism
  • Heterozygote*
  • Humans
  • Kruppel-Like Transcription Factors / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • alpha-Thalassemia* / blood
  • alpha-Thalassemia* / genetics

Substances

  • Kruppel-Like Transcription Factors
  • erythroid Kruppel-like factor
  • Hemoglobin A2
  • Fetal Hemoglobin