Elucidating the spectrum of alpha thalassemia mutations in iran
Elucidating the spectrum of alpha thalassemia mutations in iran - tangowire all interracial dating
61 (59.2%) of these individuals represented thalassemia major and 42 (40.8%) thalassemia intermedia clinical phenotype.To re-evaluate our current diagnostic criteria, γ polymorphism and coexistence of alpha thalassemia mutations, frequently recalled as important factors modifying the clinical phenotype of homozygous beta zero thalassemia cases in our country, were examined in both groups.
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In this method, PCR amplification was carried out using biotinylated primers, followed by hybridization of the PCR product to a test strip containing allele-specific oligonucleotide probes immobilized as an array of parallel lines.
Gene frequency for thalassemia differs markedly among different populations, reaching 10% in certain areas.
From 362 thalassemia cases referred to adult thalassemia clinic of the Iranian blood transfusion organization (IBTO) for genotyping, 103 cases (28.5%) had a common primary disease factor, IVSII-1 mutation in homozygous state.
Cases with unknown molecular defects were investigated further by direct gene sequencing.
Finally, further study was done for probable unknown deletions by gene dosage analysis using real-time PCR.
In 21 out of 29 unknown cases (72.4%), the assay showed various patterns of deletions in at 2 to 5 screened regions (θ gene up to the upstream of alpha2 gene).