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

• Autor(a) principal: Miranda, Silvia R.p.
• Data de Publicação: 1997
• Outros Autores: Fonseca, Silvana Fahel da [UNIFESP], Figueiredo, Maria Stella [UNIFESP], Yamamoto, Mihoko [UNIFESP], Grotto, Helena Z.w., Saad, Sara Teresinha Olalla, Costa, Fernando F.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1590/S0100-84551997000400030; http://repositorio.unifesp.br/handle/11600/554

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.