Haematologica
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Haematologica, Vol 89, Issue 6, 743-745
Copyright © 2004 by Ferrata Storti Foundation

Case Reports

Hb Gun Hill: a further de novo observation

M De Angioletti, G Lacerra, R Testa, A Flagiello, G Schiliro, and C Carestia

Here we report the third observation (the second de novo) of unstable Hb Gun Hill or [b91(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 trade mark 30% variant hemoglobin. Mild hemolytic symptoms were detected seven years later. DNA sequencing and functional studies of mRNA and globin chains were performed.




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Copyright © 2004 by the Ferrata Storti Foundation.