Blood cells, molecules, & diseases, 2017-05, Vol.64, p.30-32
2017
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Details
- Autor(en) / Beteiligte
- Titel
- Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation
- Ist Teil von
- Blood cells, molecules, & diseases, 2017-05, Vol.64, p.30-32
- Ort / Verlag
- United States: Elsevier Inc
- Erscheinungsjahr
- 2017
- Quelle
- Elsevier ScienceDirect Journals
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1079-9796eISSN: 1096-0961DOI: 10.1016/j.bcmd.2017.03.007Titel-ID: cdi_proquest_miscellaneous_1881446866
- Format
- –
- Schlagworte
- Adolescent, Adult, alpha-Thalassemia - blood, alpha-Thalassemia - genetics, Female, Fetal Hemoglobin - genetics, Fetal Hemoglobin - metabolism, Hematological phenotype, Hemoglobin A2 - genetics, Hemoglobin A2 - metabolism, Heterozygote, Humans, KLF1, Kruppel-Like Transcription Factors - genetics, Male, Middle Aged, Mutation, Screening, α-thalassemia trait