Here we report the third observation (the second de novo) of unstable Hb Gun Hill or [beta91(F7)-95(FG2)Leu-His-Cys-Asp-Lys>0]. The two-year old male carrier showed low mean corpuscular hemoglobin (MCH) and mean hemoglobim concentration (MCHC), 8.5% fetal hemoglobin and about 30% variant hemoglobin. Mild hemolytic symptoms were detected seven years later. DNA sequencing and functional studies of mRNA and globin chains were performed.
Hb Gun Hill: a further de novo observation
De Angioletti M;Lacerra G;
2004
Abstract
Here we report the third observation (the second de novo) of unstable Hb Gun Hill or [beta91(F7)-95(FG2)Leu-His-Cys-Asp-Lys>0]. The two-year old male carrier showed low mean corpuscular hemoglobin (MCH) and mean hemoglobim concentration (MCHC), 8.5% fetal hemoglobin and about 30% variant hemoglobin. Mild hemolytic symptoms were detected seven years later. DNA sequencing and functional studies of mRNA and globin chains were performed.File in questo prodotto:
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