The Prevalence Of β-Thalassemia Mutations in South Western Maharashtra     

Sandeep B. Satpute  Mangesh P. Bankar  Abdulrahaman A. Momin 《Indian journal of clinical biochemistry : IJCB》2012,27(4):389-393

Thalassemia has been recognized by the World Health Organization as important inherited disorders principally impacting on the populations of low income countries. In this report, the prevalence of common β-thalassemia mutations in India was defined in 126 β-thalassemia carrier subjects in a western Indian population mainly from the south-western Maharashtra. The six most common β-thalassemia mutations were detected, which included IVS I-5 (G–C), IVS I-1 (G–T), codon 8–9 (+G), codon 41/42 (–TCTT), Codon 15 (G–A), and 619 bp deletion at 3′ end of β-globin gene. These mutations accounted for 93.66 % in 126 β-thalassemia carrier subjects and 6.34 % remained uncharacterized. Out of 126, 82 (65.07 %) showed the most common (prevalent) type of mutation, IVS I-5 (G–C), followed by IVS I-1 (G–T) showed by 12 (9.52 %) subjects. Three (2.38 %) subjects showed 619 bp deletion, codon 8/9 (+G) and codon 15 (G–A) mutations were present in eight subjects each (6.34 %). Only five (3.96 %) subjects showed codon 41/42 (–TCTT). There were eight (6.34 %) subjects where mutation was not any of the six mutations studied. This study provides the pattern of β thalassemia mutations from south-western Maharashtra, which will help to prevent β-thalassemia using prenatal diagnosis and proper counseling.

Electronic supplementary material

The online version of this article (doi:10.1007/s12291-012-0230-y) contains supplementary material, which is available to authorized users.  相似文献   

ICT enabled Almajiri education in Nigeria: Challenges and prospects     

Fahm  AbdulGafar Olawale  Azeez  Adesina Lukuman  Imam-Fulani  Yusuf Olayinka  Mejabi  Omenogo Veronica  Faruk  Nasir  Abdulrahaman  Musbau Dogo  Olawoyin  Lukman Abiodun  Oloyede  Abdulkarim Ayopo  Surajudeen-Bakinde  Nazmat Toyin 《Education and Information Technologies》2022,27(3):3135-3169

Education and Information Technologies - The Almajiri children in Nigeria are deserving of special interventions to reduce the life-long divide in educational achievement, social status, and...  相似文献