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Article

Hb Gun Hill: a further de novo observation.

Haematologica - 1 Jun 2004

De Angioletti Maria, Lacerra Giuseppina, Testa Rosario, Flagiello Angela, Schilirò Gino, Carestia Clementina

Abstract excerpt

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...

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PMID: 15194542

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