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Hb Gun Hill: a further de novo observation.

Authors :
De Angioletti M
Lacerra G
Testa R
Flagiello A
SchilirĂ² G
Carestia C
Source :
Haematologica [Haematologica] 2004 Jun; Vol. 89 (6), pp. 743-5.
Publication Year :
2004

Abstract

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.

Details

Language :
English
ISSN :
1592-8721
Volume :
89
Issue :
6
Database :
MEDLINE
Journal :
Haematologica
Publication Type :
Report
Accession number :
15194542