Hemoglobinopathies are the commonest single gene disorders in India. Department is involved in community control and prevention programs for hemoglobinopathies and red cell enzymopathies. Department has been involved in the population screening, community awareness/education, training, genetic counselling and prenatal diagnosis.
The 1st prenatal diagnosis centre in the country was established way back in 1990 followed by establishment of 1st New-born screening program in India. Satellite centre for hemoglobinopathies has been established at Chandrapur. Department has undertaken number of multicentric studies on hemoglobinopathies and red cell enzymopathies which led to establishment of genetic and prenatal diagnostic facilities at different states
The research carried out in the department focuses on: Role of genetic modifiers on clinical severity of hemoglobinopathies patient, Understanding the role of Micro RNAs in hydroxyurea mediated HbF induction. Assessment of Neonatal Screening Approaches for Sickle Cell Disease and The Effect of Early Intervention in Management of the Disease in Tribal Populations.
Department is also involved in the diagnosis of unexplained hemolytic anemia with reference to rare enzymopathies/membranopathies/congenital dyserythropoesis. Simple cost effective techniques for detection hereditary hemolytic anemia was developed.
The translational research endeavors in the laboratory are developing molecular diagnostic tools. We have developed a Covalent Reserve Dot-blot [CRDB] kit for detection of 7 common thalassemia mutations and hemoglobin variants in the Indian population.
|Sr. No.||Name||Designation||Email ID|
|1||Dr. Malay B. Mukherjee||Scientist Femail@example.com|
|2||Dr. Anita H. Nadkarni||Scientist Ffirstname.lastname@example.org|
|3||Dr. Prabhakar S. Kedar||Scientist Demail@example.com|
|4||Mrs. Pratibha Sawant||Tech Officer A|
|5||Dr. Prashant Warang||Tech Officer A|
|6||Mrs. Rati Devendra||Technical Assistant|
|7||Mr. Pramod Mayekar||Lab Technician – C|
|8||Mr. Prakash Solanki||Lab Technician – C|
|9||Mr. Ashish Chiddarwar||Lab Technician – C|
|10||Mrs. Pallavi Mehta||Lab Technician – C|
|11||Mrs. Manju Gorivale||Technician – A|
|12||Mr. Ramdas Mayekar||Lab Assistant|
|13||Mr. Ashok Patel||Lab Assistant|
|14||Mr. Gurudev Rane||Lab Assistant|
|15||Mr. Vinod Gupta||Sequencer Operator|
- Role of Erythroid Kruppel-like Factor (EKLF or KLF1) in Haemoglobinopathies (Funded By Department of Health Research (DHR), 2013-2018).
- Assessing the role of microRNAs in clinical severity of Thalassemia Patients, and its role in hydroxyurea mediated HbF induction (Funded By SERB, 2017- 2020).
- Role of telomere length and telomerase activity in clinical outcome of patients with hemoglobinopathies (Funded By Indian Council of Medical Research (ICMR), 2018-2020).
- Prevalence and molecular characterization of NADH-Cytochrome b5 reductase deficiency in India (Funded By ICMR, 2016 - 2018).
- Molecular characterization of undiagnosed cases of congenital hemolytic anemia using a multigene next-generation sequencing panel (Funded By DBT, 2017 - 2020).
- Red cell membrane pathology in Hereditary Spherocytosis (HS) in India (Funded By DST, 2017 – 2020).
- Understanding the Pathophysiological role of Microparticles and Ubiquitin proteasome system in Sickle cell disease (2017 – 2020).
- Micro Mapping of g6pd deficiency among the tribals of india and its importance for antimalarial therapy (Funded By ICMR, 2015 - 2018).
- Interim Satellite Centre on Hemoglobinopathies at Chandrapur, Maharashtra (Funded by ICMR, 2015-2020Funded by ICMR, 2015 - 2020)
- Implication of the Presence of Globin Gene Modifiers on Fetal Diagnosis of thalassemia and Sickle cell Disorders (Funded By ICMR, 2014 - 2017).
- Innate Immune receptors gene polymorphisms and their role as genetics determinants of infection in neonatal sepsis (Funded By ICMR, 2017).
- Oxidative stress in hereditary chronic hemolytic anemia and the protective effect of natural antioxidants – fermented papaya preparation, strawberry extract and photo peel: An in-vitro study (Funded by ICMR, 2014 - 2017).
- Quality Assurance Programme for Molecular and Prenatal Diagnosis of Haemoglobinopathies (Funded By DHR, 2013-2016).
- Establishment of Prenatal Diagnosis of Thalassemia Syndromes and Sickle Cell Disorders in Madhya Pradesh and Assam (Funded By icmr, 2014 - 2017)