Article
The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.
Annals of hematology - 1 Jun 2009
Chassanidis Christos, Kalamaras Angelos, Phylactides Marios, Pourfarzad Farzin, Likousi Sophia, Maroulis Vassilis, Papadakis Manoussos N, Vamvakopoulos Nikolaos K, Aleporou-Marinou Vassiliki, Patrinos George P, Kollia Panagoula
Abstract excerpt
Nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH), a rare hereditary condition resulting in elevated levels of fetal hemoglobin (Hb F) in adults, is associated with promoter mutations in the human fetal globin (HBG1 and HBG2) genes. In this paper, we report a novel type of nd-HPFH due to a HBG2 gene promoter mutation (HBG2:g.-109G>T). This mutation, located at the 3' end of the HBG2 distal CCAAT...
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