Linked Life Data

21468564

Source:http://linkedlifedata.com/resource/pubmed/id/21468564

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2011-4-6
pubmed:abstractText
Hemoglobin (Hb) Q-Thailand, also known as G-Taichung, Mahidol, Kurashiki-I and Asabara, is an ?-globin chain variant that results from a point mutation (GAC?CAC; Asp?His) at codon 74 of the ?1-globin gene on chromosome 16p with a leftward single ?-globin gene deletion (-?(4.2)). Co-inheritance of Hb Q-Thailand with ?-thalassemia (mainly --(SEA)) results in thalassemia intermedia, termed Hb Q-H disease. The aim of the present study was to identify Hb Q-H disease in a Cantonese family. The presence of the Hb variant was confirmed by cellulose acetate electrophoresis. DNA analysis, based on polymerase chain reaction and sequencing, was developed to identify the ?(Q-Thailand) mutation and common ?-thalassemia gene deletions. Three cases of Hb Q-H disease and two Hb Q-Thailand carriers were found in the family. The 3-day-old proband with Hb Q-H disease did not show anemia (Hb 144 g/l), having 25.47% Hb F(Q) (?(Q)???) in the total Hb; the other two cases of Hb Q-H disease manifested mild-to-moderate anemia. None required regular transfusions.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1791-3004
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
279-81
pubmed:meshHeading
pubmed:articleTitle
Three cases of Hb Q-H disease found in a Cantonese family.
pubmed:affiliation
Guangzhou Kingmed Center for Clinical Laboratory, Guangdong, Guangzhou 510330, P.R. China. huzh@kingmed.com.cn
pubmed:publicationType
Journal Article