Linked Life Data

21599435

Source:http://linkedlifedata.com/resource/pubmed/id/21599435

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2011-5-23
pubmed:abstractText
Hemoglobin (Hb) gene disorders are common inherited diseases in Taiwan. The ?- and ?-thalassemias are among the well-known Hb diseases in this area. We reviewed abnormal hematological data in 3578 cases, identified between 1998 and 2009, as being at-risk for ?-thalassemia (?-thal) (n = 1909; 53.3%), ?-thal (n = 743; 20.8%), non-?, ?-thal (n = 872; 24.4%), and ?-thal combined with ?-thal (n = 54; 1.5%), and collected fetal blood samples for prenatal testing. The most common types of ?(0)- and ?(+)-thal were the SEA (Southeast Asian) deletion and the -?(3.7) rightward deletion, with frequencies of 87.79 and 4.85%, respectively. The frequency of the IVS-II-654 (C>T) mutation, the most common ?-thal mutation in this region, was 38.6%. Hb E [?26(B8)Glu?Lys, GAG>AAG] was found to be the most common Hb variant, and it was concluded that Hb Tak [?147 (+AC)], Hb G?-Taichung (also known as Hb Q-Thailand) [?74(EF3)Asp?His, GAC>CAC (?1)], Hb Owari [?121(H4)Val?Met (GTG>ATG)], and Hb Phnom Penh [?117(GH5)Phe-Ile-?118(H1)Thr (?1)] were very rare. The results of this study provide a primary reference for designing a locally relevant antenatal diagnostic test for controlling the spread of thalassemia.
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
228-36
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Molecular lesion frequency of hemoglobin gene disorders in Taiwan.
pubmed:affiliation
Department of Pediatrics, Children's Hospital, China Medical University & Hospital, Taichung, Taiwan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't