Ontology highlight
ABSTRACT:
SUBMITTER: Fanis P
PROVIDER: S-EPMC6790707 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Fanis Pavlos P Kousiappa Ioanna I Phylactides Marios M Kyrri Andreani A Hadjigavriel Michael M Christou Soteroula S Sitarou Maria M Kleanthous Marina M
Human mutation 20190624 10
We describe the identification of a novel missense mutation in the second zinc finger of KLF1 in two siblings who, based on their genotype, are predicted to suffer from beta thalassemia major but are, in fact, transfusion-free and in good health. These individuals, as well as two additional members of the same family also carrying this KLF1 mutation, exhibit high levels of fetal hemoglobin (HbF). KLF1 is an erythroid transcription factor, which plays a critical role in the regulation of the deve ...[more]