Familial congenital cyanosis caused by Hb-M Yantai (alfa-76 GAC - TAC, Asp - Tyr)
Genet. mol. biol
;
33(3): 445-448, 2010. ilus, graf, tab
Artículo
en Inglés
| LILACS
| ID: lil-555832
ABSTRACT
Methemoglobin (Hb-M) is a rare hemoglobinopathy in China. We hereby report on a family living in Yantai, East China, with congenital cyanosis due to Hb-M mutation. The proband, a 65-year-old female, presented 63 percent oxygen saturation. Both Hb-M concentration and arterial oxygen saturation remained unchanged, even following intravenous treatment with methylene blue. There was also no change in blood-color (chocolate-brown) after adding 0.1 percent KCN. A fast-moving band (Hb-X) in hemolysates was found by cellulose acetate electrophoresis, the Hb-X/Hb-A ratio exceeding 10 percent. GT transition at 131nt of exon 2, although present in one of the alfa2-globin alleles, was not found in alfa1-globin alleles as a whole. This mutation leads to the aspartic acid to tyrosine substitution (Asp76Tyr). In this family, the novel mutation in the alfa2-globin gene resulted in a rare form of congenital cyanosis due to Hb-M. This hemoglobin was named Hb-M Yantai.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Hemoglobina M
/
Cianosis
/
Metahemoglobinemia
Límite:
Anciano
/
Femenino
/
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Genet. mol. biol
Asunto de la revista:
Genética
Año:
2010
Tipo del documento:
Artículo
País de afiliación:
China
Institución/País de afiliación:
Bin Zhou Medical University/CN
/
Wenzhou Medical College/CN
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