Linked Life Data

21417575

Source:http://linkedlifedata.com/resource/pubmed/id/21417575

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2011-3-22
pubmed:abstractText
A 42-year-old Chinese woman (FP) was the mother of a patient with ?-thalassemia major (?-TM) due to a compound heterozygosity for ?(0)-thalassemia (?(0)-thal) mutations. She was also found to have a low Hb A(2) level of 1.6% by high performance liquid chromatography (HPLC) despite being a heterozygous carrier of the codons 41/42 (-TCTT) (HBB:c.126_129delCTTT) ?(0)-thal mutation. Doubling the amount of hemolysate loaded for chromatography revealed a widened Hb A(2) peak and raised the level to 4.1%, consistent with ?-thal trait. Direct nucleotide sequencing detected a novel ?-globin gene mutation at codon 29 (HBD:c.89G>A), which leads to a glycine to aspartic acid substitution. A homologous mutation at codon 29 in the ?-globin gene [Hb Lufkin or ?29(B11)Gly?Asp] has been reported in Black families. This report highlights the importance of genotype-phenotype correlation and the potential pitfall of relying on Hb A(2) level for phenotypic diagnosis of ?(0)-thal trait.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1532-432X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
162-5
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Hb A2 Hong Kong - A novel ?-globin variant in a Chinese family masks the diagnosis of ?-thalassemia trait.
pubmed:affiliation
Department of Pathology, Faculty of Medicine, University of Hong Kong, Hong Kong SAR, China. scc@pathology.hku.hk
pubmed:publicationType
Journal Article, Case Reports