Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Original article / research
Year : 2018 | Month : May | Volume : 12 | Issue : 5 | Page : GC01 - GC06

Mutation Analysis of Beta-thalassaemia in 30 Families of India: A Report

Parth S Shah, Nidhi D Shah, Hari Shankar P Ray, Nikunj B Khatri, Ketan K Vaghasia, Mandava V Rao, Sandip C Shah

1. Chief Scientific Officer, Molecular Genomics, Department of Molecular, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India. 2. Chief Scientific Officer, Molecular Genomics, Department of Molecular, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India. 3. Research Scientist, Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India. 4. Bioinformatician, Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India. 5. Senior Scientist, Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India. 6. Ex. Director, Department of Zoology and Human Genetics, School of Sciences, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India. 7. Lab Director, Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Ah

Correspondence Address :
Dr. Sandip C Shah,
Lab Director, Department of Molecular, Supratech Micropath Laboratory and Research Institute Kedar Complex, Opposite Krupa Petrol Pump, Near, Parimal Garden, Ahmedabad-380006, Gujarat, India.
E-mail: supratech18@gmail.com

Abstract

Introduction: The -thalassaemia is one of the haemoglobinopathies related to genetic disorders. It occurs due to mutation in -gene of autosome 11. In India, it affects 1-7% of couples annually. Reports are available in few states of India about -thalassaemia affected families. But much data is not reported in families of various states of India. Further, the incidence of case index and mutations in parents and siblings of these families are limited.

Aim: To analyse patient case index and mutation analysis of parents and siblings {Children and Chorionic villus sampling/Amniotic fluid (CVS/AF) cases} of 30 families of India and to develop preventive measures.

Materials and Methods: A total of 101 referral cases of 30 families filled consent forms and then blood was drawn in a sterilised tube from each case (71) for the study. The AF/CVS (30) were also included. The red cell markers like Mean Corpuscular Volume (MCV), Red Cell Distribution Width (RDW) etc., biochemical, case types and molecular analysis were done using respective techniques for red cell indices, Haemoglobin (Hb) types and mutation analysis.

Results: We report a number of 30 referral families (101 cases) having parents (60), children (11) and CVS/AF samples (30) for their -thalassaemia, as these traits also cause -gene mutations. Out of these 101 cases, 88 (87%) cases were positive for this disease. Only 74 (73%) were detected carriers. The case analysis in present cohort indicated parents (56.5%), CVS/AF (19.8%) and proband (children) (10.9%) were found affected. All children moreover, were affected and did, not have CVS/AF samples. The mutations analysis, indicated c.92+G>C (50/94; 53.19%) was maximum and parents contributed 62% followed by siblings (38%) with CVS/AF (22%) and proband (16%) in present cohort. Thus, in the present study, mutation analysis further pointed out that parents transmit these to the offsprings in the subsequent generation who would be the targets of thalassaemia disease.

Conclusion: The present study, points out that mutations transfer from parents to offspring follows the laws of inheritance. Case index study showed parents constituted high percent of cases followed by CVS/AF and children/probands, comparable to mutation analysis in present cohort. Hence, carrier parents must undergo counseling and genetic testing to confirm their genetic disorder to limit the burden of the disease.

Keywords

Beta-thalassaemia traits, Red cell markers, Referral cases

How to cite this article :

Parth S Shah, Nidhi D Shah, Hari Shankar P Ray, Nikunj B Khatri, Ketan K Vaghasia, Mandava V Rao, et al.. MUTATION ANALYSIS OF BETA-THALASSAEMIA IN 30 FAMILIES OF INDIA: A REPORT. Journal of Clinical and Diagnostic Research [serial online] 2018 May [cited: 2018 Aug 20 ]; 12:GC01-GC06. Available from
http://www.jcdr.net/back_issues.asp?issn=0973-709x&year=2018&month=May&volume=12&issue=5&page=GC01-GC06&id=11463

DOI and Others

DOI: 10.7860/JCDR/2018/27646.11463

Date of Submission: Feb 16, 2017
Date of Peer Review: Apr 06, 2017
Date of Acceptance: Nov 25, 2017
Date of Publishing: May 01, 2018

FINANCIAL OR OTHER COMPETING INTERESTS: None.

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