English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Beta Thalassemia is the most prevalent and well-studied single gene disorder in Iran. Here, we investigated the spectrum of  HBB  gene mutations, identified among 2315 patients, referred to a reference thalassemia clinic in Tehran, on the basis of suspicion to thalassemia major or intermedia. The patients were homozygous or compound heterozygous for  HBB  mutations, and were referred from various Iranian provinces, during 15 years (2001- 2016). The  HBB  mutations were classified based on their frequency, and the result was compared to a meta-analysis of 14,293 beta thalassemia cases in the Iranian population, within the same time period. The mutation spectrum in this study contained 43  HBB  mutations, compared to the 90, presented by the meta-analysis. Similar to the meta-analysis, IVSII-1 (G &gt; A) and IVSI-5 (G &gt; C) were the most common mutations in this study. These two comprised 62.40% of the total  HBB  mutant alleles in the studied population, comparable to 51.92% of that in the meta-analysis. IVSII-1 (G &gt; A) and IVSI-5 (G &gt; C), followed by 17 other mutations that had frequencies ranging from 0.15% to 5.44%, were among the 20 common  HBB  mutations in Iran and neighboring countries, according to the meta-analysis. This study provided further evidence to support the spectrum of the most common  HBB  mutations in the Iranian population.

The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran