Transfusion Genomics

Blood transfusions are today one of the commonest medical interventions and it is estimated that annually over 10 million units of blood are transfused in India. Apart from the ABO blood group systems there are a number of blood group systems now known encompassing a number of blood group antigens now known. While serology and genotyping can today identify a number of additional common antigens, it is impossible with the current state of the art technologies to identify all antigens. A rare blood group is defined as with a prevalence of less than 1 in 1000 individuals. The rare blood groups become important especially for people requiring chronic transfusions.

GUaRDIAN Transfusion Genomics Initiative


CSIR Institute of Genomics and Integrative Biology have been one of the pioneers in genomics research and implementation in the area of rare diseases in the country through the Genomics for Understanding Rare Diseases India Alliance Network (GUaRDIAN). GUaRDIAN today is a nationwide network of over 280 clinical collaborators from over 70 centres across the country, making it one of the largest networks in the area of rare disease research in the country.



The GUaRDIAN Rare Blood Group Genomics Initiative aims to create a collaborative network of clinicians involved in Transfusion Medicine to understand the genetic makeup of rare blood groups in India and also develop the knowledge base, resources and tools to enable genomic applications for characterization of Rare Blood groups in the country.

Highlights

BGvar - a comprehensive resource for Blood Group Immunogenetics

BGvar is a comprehensive compilation of human blood group alleles belonging to International Society of Blood Transfusion (ISBT) approved human blood group systems. The resource integrates relevant data from a range of public sources, encompassing a total of 43 human group systems, 345 antigens, 1700 approved alleles. BGvar also enlists about 1706 blood group alleles predicted from 1000 Genomes Project and compiled from literature reports. The compiled variants are systematically annotated for their HGVS nomenclature, Global Allele Frequencies and corresponding clinical significance collated from literature evidences.

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Publications


Rophina M, Pandhare K, Jadhao S, Nagaraj SH, Scaria V.

BGvar: A comprehensive resource for blood group immunogenetics.

Transfus Med. 2021 Dec 13. doi: 10.1111/tme.12844. Epub ahead of print. PMID: 34897852.


Rophina M, Teh LK, Sivasubbu S, Scaria V, Salleh MZ

Genomic map of blood group alleles in Malaysian indigenous Orang Asli population from whole genome sequences

medRxiv 2021.12.04.21267232; doi: https://doi.org/10.1101/2021.12.04.21267232

Collaborating with us

We invite clinicians involved in Transfusion Medicine who would be interested to be part of the initiative from across the country.


Contact

Dr Vinod Scaria vinods@igib.in

Dr Sridhar Sivasubbu sridhar@igib.in