| pubmed-article:16370491 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C1553355 | lld:lifeskim |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C0299250 | lld:lifeskim |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C1332762 | lld:lifeskim |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C0010654 | lld:lifeskim |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C0033053 | lld:lifeskim |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C1420714 | lld:lifeskim |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C1422292 | lld:lifeskim |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C0439855 | lld:lifeskim |
| pubmed-article:16370491 | lifeskim:mentions | umls-concept:C1504308 | lld:lifeskim |
| pubmed-article:16370491 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:16370491 | pubmed:dateCreated | 2005-12-22 | lld:pubmed |
| pubmed-article:16370491 | pubmed:abstractText | The beta-thalassemia (thal) minor phenotypes with normal Hb A2 levels and decreased MCV and MCH values are relatively rare beta-thal traits. Here, we describe a family with normal Hb A2 and decreased MCV and MCH levels. Amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) revealed the IVS-II-1 (G-->A) mutation in the beta-globin gene of the proband and her father. Direct sequencing of the gamma-globin gene of the proband and her father also revealed a previously reported variant called Hb A2-Troodos [gamma116(G18)Arg-->Cys] [in cis with the IVS-II-1 (G-->A) beta0-thal mutation]. This is the first case report of Hb A2-Troodos in association with the beta0 IVS-II-1 mutation. Reduced Hb A2 expression by a concomitant Hb A2 beta-thal in cis or trans, may cause problems in carrier diagnostics, and eventually in genetic counseling and prenatal diagnosis when insufficient molecular analyses are performed. | lld:pubmed |
| pubmed-article:16370491 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16370491 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16370491 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16370491 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16370491 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16370491 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16370491 | pubmed:issn | 0363-0269 | lld:pubmed |
| pubmed-article:16370491 | pubmed:author | pubmed-author:ZeinaliSirous... | lld:pubmed |
| pubmed-article:16370491 | pubmed:author | pubmed-author:AbolghasemiHa... | lld:pubmed |
| pubmed-article:16370491 | pubmed:author | pubmed-author:EramS... | lld:pubmed |
| pubmed-article:16370491 | pubmed:author | pubmed-author:AzimifarBabak... | lld:pubmed |
| pubmed-article:16370491 | pubmed:author | pubmed-author:FouladyPantyP | lld:pubmed |
| pubmed-article:16370491 | pubmed:author | pubmed-author:LotfiVidaV | lld:pubmed |
| pubmed-article:16370491 | pubmed:author | pubmed-author:MasrouriMarya... | lld:pubmed |
| pubmed-article:16370491 | pubmed:author | pubmed-author:HosseiniMaeso... | lld:pubmed |
| pubmed-article:16370491 | pubmed:author | pubmed-author:Abdolhosseini... | lld:pubmed |
| pubmed-article:16370491 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16370491 | pubmed:volume | 29 | lld:pubmed |
| pubmed-article:16370491 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16370491 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16370491 | pubmed:pagination | 289-92 | lld:pubmed |
| pubmed-article:16370491 | pubmed:dateRevised | 2006-2-28 | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:meshHeading | pubmed-meshheading:16370491... | lld:pubmed |
| pubmed-article:16370491 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:16370491 | pubmed:articleTitle | The IVS-II-1 (G-->a) beta0-thalassemia mutation in cis with HbA2-Troodos [delta116(G18)Arg-->Cys (CGC-->TGC)] causes a complex prenatal diagnosis in an Iranian family. | lld:pubmed |
| pubmed-article:16370491 | pubmed:affiliation | Medical Genetics Laboratory of Dr. Zeinali, Tehran, Iran. | lld:pubmed |
| pubmed-article:16370491 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16370491 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:3045 | entrezgene:pubmed | pubmed-article:16370491 | lld:entrezgene |
