Familial congenital cyanosis caused by Hb-M Yantai (α-76 GAC → TAC, Asp → Tyr)

Familial congenital cyanosis caused by Hb-M Yantai (α-76 GAC → TAC, Asp → Tyr)

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 unch...

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Bibliographic Details
Main Authors: Yanbo Sun, Pingyu Wang, Youjie Li, Fei Jiao, Zunling Li, Ying Ma, Wei Li, Shuyang Xie
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2010-01-01
Series:Genetics and Molecular Biology
Subjects:
congenital cyanosis
hemoglobin
methemoglobinemia
a-globin gene
China
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300009&lng=en&tlng=en

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