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| Sun,Yanbo; Wang,Pingyu; Li,Youjie; Jiao,Fei; Li,Zunling; Ma,Ying; Li,Wei; Xie,Shuyang. |
| 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% 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% KCN. A fast-moving band (Hb-X) in hemolysates was found by cellulose acetate electrophoresis, the Hb-X/Hb-A ratio exceeding 10%. GT transition at 131nt of exon 2, although present in one of the α2-globin alleles, was not found in α1-globin alleles as a whole. This mutation leads to the aspartic acid to tyrosine substitution... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Congenital cyanosis; Hemoglobin; Methemoglobinemia; A-globin gene; China. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300009 |
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