||Sun, Yanbo; Wang, Pingyu; Li, Youjie; Jiao, Fei; Li, Zunling; Ma, Ying; Li, Wei; Xie, Shuyang.|
||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.
||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.|
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