alexa Case Study On Identification Of Compound Heterozygous β+ β0 Mutation Of HBB Gene Leading To β-thalassemia Major In India
ISSN: 2167-1079

Primary Healthcare: Open Access
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Share This Page

Additional Info

Loading Please wait..

3rd Annual Congress & Medicare Expo on Primary Healthcare, Clinical & Medical Case Reports
April 17-19, 2017 Dubai, UAE

Spandan Chaudhary and Prashanth Bagali
Xcelris Labs Ltd., India
ScientificTracks Abstracts: Primary Health Care
DOI: 10.4172/2167-1079-C1-005
β-thalassemia is a genetic disease characterized by reduced or non-functionality of β-globin gene expression, which is caused due to number of genetic variations and indels (insertions and deletions). In the present case study, we have reported a rare occurrence of compound heterozygosity of two different variants, namely, HBBc.92G>C and HBBc.92+5G>C in maternal amniotic fluid sample. Prenatal β-thalassemia mutation was detected using nucleotide sequencing method. After analysis, the father was found to be heterozygous for HBBc.92G>C (Codon 30 (G>C)) mutation (β0 type) and the mother was heterozygous for HBBc.92+5GNC (IVS I-5 (G>C)) mutation (β+ type). When amniotic fluid sample was analyzed for β- globin gene (HBB), we found the occurrence of heterozygous allelic pattern for aforesaid mutations. This compound heterozygous state of fetus sample was considered as β+/β0 category of β thalassemia which was clinically and genotypically interpreted as β-thalassemia major. The probability of occurrence of both mutations is very low, because mutations are only 5 base pairs apart on HBB gene. Segregation of compound heterozygosity has occurred twice in this family. Along with the present case, we will share our experience of analyzing 21 unrelated families (trios samples) for detection of β-thalassemia using whole gene sequencing and RT-PCR assays. We will share few interesting case studies like co-inheritance of sickle cell anemia and β-thalassemia traits, compound heterozygosity of beta thalassemia major and normal in the case of twin pregnancy. Prenatal diagnosis helps the parents to know the thalassemic status of the fetus in the first trimester screening.

Spandan Chaudhary is the Team Leader of Medical Genetics, Diagnostics and Next Generation research divisions of Xcelris Labs, India. He has six years of professional experience in genomics industry specifically in the Medical Genetics segment. He has developed more than 30 very important diagnostic, sports and nutrition health related assays. He has designed the beta thalassemia mutation screening assay based on whole gene sequencing of HBB gene including all the mutations and indels. He has screened more than 200 individual samples and 25 trio samples as prenatal screening for beta thalassemia. This approach is very useful in diagnosing prenatal thalassemia in combination with regular screening methods.

Email: [email protected]

image PDF   |   image HTML
Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version