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Hb Köln [a2b298(FG5) val-met] identified by DNA analysis in a Brazilian family

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Author(s): Miranda Silvia R.P. | Fonseca Silvana F. | Figueiredo Maria S. | Yamamoto Myoko | Grotto Helena Z.W. | Saad Sara T.O. | Costa Fernando F.

Journal: Brazilian Journal of Genetics
ISSN 0100-8455

Volume: 20;
Issue: 4;
Date: 1997;
Original page

ABSTRACT
Hb Köln was identified by DNA analysis in a Brazilian patient. A four-year old Brazilian female, with jaundice since birth, presented an abnormal band, between A2 and S, in hemoglobin electrophoresis on a cellulose acetate membrane, and a band with electrophoretic migration similar to Hb C on agar gel. Thermic instability and isopropanol precipitation tests were positive. Heinz bodies were observed in the patient?s peripheral blood. Sequencing of the three exons of the b globin gene detected a transition from G to A in the first position of codon 98. This alteration does not create or abolish any known restriction site. In this case, confirmation of the mutation was accomplished by allele-specific oligonucleotide hybridization, which is a simple and fast identification method when the clinical data and hematological and electrophoretic patterns are suggestive of Hb Köln.
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