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
Article
in English
| 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Hemoglobin M
/
Cyanosis
/
Methemoglobinemia
Limits:
Aged
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2010
Type:
Article
Affiliation country:
China
Institution/Affiliation country:
Bin Zhou Medical University/CN
/
Wenzhou Medical College/CN
Similar
MEDLINE
...
LILACS
LIS