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.
383T Age-related structural changes of the olfactory receptor subgenome in human blood cells and autologous brain regions.
Molecular test results of 231 individuals referred to our molecular genetics laboratory for analysis of α-globin gene mutations between the years 20 were evaluated.Analysis of α-thalassemia gene mutations was performed using reverse dot-blot hybridisation, which includes 21 common mutations.Three α-thalassemia mutations (αcd142α, --SEA, and αICα), which are more prevalent in Southeast Asia, are identified for the first time in Turkey in this study.We find that a broad spectrum of α-thalassemia mutations is present in the Aegean region of Turkey.These results imply that other interacting mechanisms which modify the phenotype of thalassemia patients is still in the dark in our current diagnostic criteria of thalassemia.
Although alpha-thalassemia (alpha-thal) is the most common hereditary hemoglobin (Hb) disorder in Iran, no comprehensive data are so far available on the prevalence of the disease in the province of Khuzestan in Southwest Iran.
Of the 13 mutations that were detected in Khuzestan Province, Iran, the - alpha3.7 single gene deletion was the most frequently identified variant, representing 62.6% of the total; we also observed significant numbers of individuals with compound heterozygous mutations.
On the basis of our results, we strongly recommend screening for the most common mutations to improve the molecular diagnosis of anemia in this region.
392T Clinical features in a pediatric population due to chromosome deletions at a third level pediatric Mexican hospital in 24 years period of time: Five case reports.
393F Loss of Kctd13 in mice causes short-term memory deficiency.
No statistically significant difference in the frequency of positive was observed in only one thalassemia major case.