The Spectrum of Beta-Globin Gene Mutations in Thalassemia Patients of South-Western Maharashtra: A Cross Sectional Study
Journal Title: Journal of Krishna Institute of Medical Sciences University - Year 2015, Vol 4, Issue 3
Abstract
Background: β-thalassemia is a heterogeneous group of inherited hematological disorder. Though the importance of mutations in the beta-globin gene causing β-thalassemia have been reported worldwide, no data are available from rural population of SouthWestern Maharashtra. Objective: In the present study we aimed to characterize the mutations in ß-globin gene from ß-thalassemia patients from rural areas of South-Western Maharashtra. Material and Methods: The patients were analyzed for the ß-globin gene mutations included IVS I-1 (G-T), IVS I-5 (G-C), cd 71/72 (+A), cd 41/42 (-TTCT), codon (cd) 8/9 (+G), cd 17 (A-T), cd 95 (+A), cd 43 (-C), cd 41 (-C), cd 35 (C-A), cd 26 (G-T), cd 19 (A-G), cd 15 (-T), cd 27/28 (+C) and cd 14/15 (+G) with the help of Multiplexed Amplification Refractory Mutation SystemPolymerase Chain Reaction (MARMS-PCR). Results: Out of the common mutations studied the cd 71/72 (21.54%), cd 19 (13.7 %). cd 41/42 (9.68%) and cd 41 (9.6%) showed high prevalence followed by cd17 (7.56 %). 7.27% patients showed IVSI-5 mutations, 6.26 % showed IVSI-1 mutations. Cd 15 mutations were present in 8.69 % patients and only 5.39 % subjects showed cd 8/9 mutations. This study provides the pattern of ß-thalassemia mutations from rural areas of Maharashtra in India. Conclusion: This study provides the pattern of ß-thalassemia mutations from rural population which will open a new avenue for implementation of molecular diagnostics for prenatal diagnosis and prevention of blood disorder by proper counseling in rural areas.
Authors and Affiliations
Kailas D. Datkhile , Madhavi N. Patil , Rohit D. Vavhal , Tejasvi S. Khamkar
Keywords
Related Articles
- EP ID EP142944
- DOI -
- Views 110
- Downloads 0
Comparison of Two Doses of Dexmedetomidine on Haemodynamic Stability in Patients Undergoing Laparoscopic Surgeries
Background: Dexmedetomidine has gained its popularity in providing stable haemodynamics, with significant post operative analgesia and sedation in patients undergoing laparoscopic surgeries. Two different doses of dexmed...
Persistent Mullerian Duct Syndrome in a Post Orchideopexy Patient with Gyanaecomastia and Hypospadias: A Case Report
Persistent Mullerian Duct Syndrome (PMDS), a rare form of male pseudohermaphroditism. It is characterized by the persistence of Mullerian duct structures (uterus, fallopian tubes and upper two-thirds of vagina) in ot...
Patience Pays Off: A Case of Self Exfoliation of Large Parotid Sialolith
Sialolithiasis is one of the common diseases affecting the salivary glands. The submandibular gland is the most commonly affected gland among the three major salivary glands. The incidence of parotid sialolith is rare an...
A Comparative Study of Lipid Profile and Haematological Parameters in Women Beedi Rollers and Non Beedi Rollers in Rural Population of Solapur, Maharashtra
Background: Beedi industry is one of the most important unorganized agro industries which occupies important place in the national economy. Women beedi rollers start their profession at a very early stage of life and are...
Significance of Mast Cell Density and Distribution in Various HistopathologicalLesions of Leprosy
Background: Leprosy also known as Hansen’s disease(HD), is a chronic infection caused by the Mycobacteriumleprae. Mast cells in leprosy have been investigatedin the recent past and are being examinedas a basis for future...