title: Familial congenital cyanosis caused by Hb-M(Yantai)(α-76 GAC → TAC, Asp → Tyr).
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% 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 α(2) -globin alleles, was not found in α(1) -globin alleles as a whole. This mutation leads to the aspartic acid to tyrosine substitution (Asp76Tyr). In this family, the novel mutation in the α(2) -globin gene resulted in a rare form of congenital cyanosis due to Hb-M. This hemoglobin was named Hb-M (Yantai) .
authors.affiliation: , The 107th Hospital of PLA and The Affiliated Hospital to Bin Zhou Medical University P.R. China.
authors.forename: Yanbo
authors.initials: Y
authors.lastname: Sun
authors.forename: Pingyu
authors.initials: P
authors.lastname: Wang
authors.forename: Youjie
authors.initials: Y
authors.lastname: Li
authors.forename: Fei
authors.initials: F
authors.lastname: Jiao
authors.forename: Zunling
authors.initials: Z
authors.lastname: Li
authors.forename: Ying
authors.initials: Y
authors.lastname: Ma
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Shuyang
authors.initials: S
authors.lastname: Xie