Linked Life Data

21637412

Source:http://linkedlifedata.com/resource/pubmed/id/21637412

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2011-6-3
pubmed:abstractText
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 ?(2) -globin alleles, was not found in ?(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 ?(2) -globin gene resulted in a rare form of congenital cyanosis due to Hb-M. This hemoglobin was named Hb-M (Yantai) .
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:status
PubMed-not-MEDLINE
pubmed:month
Jul
pubmed:issn
1678-4685
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
445-8
pubmed:dateRevised
2011-7-28
pubmed:year
2010
pubmed:articleTitle
Familial congenital cyanosis caused by Hb-M(Yantai)(?-76 GAC ? TAC, Asp ? Tyr).
pubmed:affiliation
, The 107th Hospital of PLA and The Affiliated Hospital to Bin Zhou Medical University P.R. China.
pubmed:publicationType
Journal Article