Article
G gamma-196 C-->T, A gamma-201 C-->T: two novel mutations in the promoter region of the gamma-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece.
Blood cells, molecules & diseases - 1 Jan 2000
Tasiopoulou Magdalini, Boussiou Marina, Sinopoulou Klio, Moraitis George, Loutradi-Anagnostou Aphrodite, Karababa Photini
Abstract excerpt
The increased level of fetal hemoglobin in nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH) is associated with several single base substitutions in the promoter region of either the (G)gamma- or the (A)gamma-globin genes. In this study, we report two new forms of nd-HPFH found in two unrelated Greek adults with high HbF production (8.6% and 10.2% respectively) and positive for the (G)gamma-158...
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