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Discoveries and Innovations

  • Discovery of “ Bombay ” blood group.
  • Discovery of novel LDH variant in association with HBsAg.
  • Discovery of Indian (Inª) blood group.
  • Detection of rare antigens like M g, I-i-, Ry, Rz alleles, Co(a-b-), homozygous D.
  • Detection of novel and rare hemoglobin variants like Hb D- Agri, HbM- Ratnagiri respectively.
  • Detection of several novel and rare β-thalassemia mutations.
  • First case of vitamin K dependent coagulation factors deficiency from India .
  • Protective effect of EACA (Epsilon Amino Caproic Acid) on factor VIII inhibitor dependent destruction of factor VIII.
  • Detection of novel mutations in Glanzmann’s thrombasthenia.
  • Correlation between chronic synovitis and HLA B 27 in patients with severe hemophilia.
  • Gene mapping of new marker chromosome using FISH.
  • Novel translocation in MDS ( Myelo Dysplastic Syndrome ).
  • Novel HLA alleles in patients with seronegative spondarthritis, hemophilia and leprosy.
  • HLA association with ANCA (Anti Neutrophil Cytoplasmic Antibodies) patients.
  • Identified several novel mutations causing coagulation factor deficiencies (factor IX, factor VII, factor X) and protein C gene.
  • Development of an ELISA assay for factor VIII antibody.
  • Development of ELISA for identification of weaker variants of A and B.
  • Development of ELISAs for C1q, ANA, anti-id, anti-Histone antibodies.
  • Strong association of microparticles of tissue factor and endothelial cell origin with unexplained recurrent pregnancy loss.
  • Microparticles as predictive markers for monitoring anticoagulant therapy in patients with unexplained pregnancy loss.
  • A simple clot based assay for detecting procoagulant microparticles. The in-house test measures the clotting time after the addition of calcium chloride to microparticle rich plasma, following incubation with Russell viper venom and phospholipid free plasma.
  • Microparticles as predictive biomarkers for preeclampsia and IUGR.
  • A specific and sensitive APTT based inhibitor screening assay using purified factor concentrate.
  • Large F8 gene rearrangements and IL10 promoter polymorphisms as strong risk factors for inhibitor development in Indian hemophilia A patients
  • A nationwide survey of hemophilia patients for inhibitors; An overall prevalence of 7.92% with wide regional variation.
  • Mutation profile of hemophilia A, hemophilia, B , VWD, Bernard Soulier syndrome, Glanzmanns thrombasthenia and all the rare coagulation factor deficiencies
  • Dengue virus preferentially infects megakaryocytic colony forming cells. Development of a cell based model for dengue virus infection.
  • A quick mismatched RFLP technique for detecting the founder mutation in mild to moderately deficient hemophilia B cases from Gujarat.
  • Demonstration that clinical severity of haemophilia due to severe disease causing mutation is modulated by co-inherited thrombophilia genes .
  • New clinical classification of severe hemophilia based on thromboelastogrphy.
  • A strong association of HLAB27 with chronic haemophilic synovitis.
  • Unusual association of factor V Leiden with Budd Chiari Syndrome.
  • Human platelet antigen genotype profile in Indian population and its application in neonatal alloimmune thrombocytopenia (NAITP)
  • Development of CRDB kit for detection of common beta thalassemia mutations in India.Participated in "Medical Science and Biotechnology Innovation Exhibition" at Rashtrapati Bhawan , New Delhi on 11th March 2015 and displayed the RDB kit.

   New techniques developed

1.       A mismatched priming technique for the detection of common G10430A mutation in hemophilia B patients

2.       A novel ELISA for the diagnosis of Glanzmanns thrombasthenia

3.       A semiquantitative assay for factor XIII

4.       A clot based assay for microparticles

5.       A specific and sensitive assay for factor VIII inhibitors