Research

Kamala Hospital and Research Center for Thalassemia and Sickle Cell patients

Kamala Hospital and Research Laboratory, established with the support of the Prema Bai Dakotiya Charitable and Memorial Society, aims to provide comprehensive and cost-effective screening for mutations in alpha, beta, and gamma genes associated with thalassemia, sickle cell anemia, and other hemoglobinopathies. Its primary research objective is to identify modifiers that influence disease severity, with the goal of improving patients’ quality of life and formulating better treatment strategies.

MAIN AIMS OF MOLECULAR RESEARCH LAB

To maintain a demographic and clinical database of all patients, aiding in the formulation of improved treatment profiles.
To establish a DNA data bank for future research studies.
To develop rapid molecular screening methods for diagnosing various hemoglobinopathies.
To create point-of-care tests for the screening of different hemoglobinopathies.
To study the impact of repeated blood transfusions on the quality of life of thalassemia patients.
To investigate the role of modifier genes in influencing disease severity.
To conduct translational research aimed at reducing the effects of iron overload in patients undergoing repeated transfusions.
To provide advanced treatment options by participating in various clinical trials.
To develop advanced gene therapy techniques to help patients lead normal, healthy lives.

MEMBERSHIP

TSCS is a member of

NATIONAL AND INTERNATIONAL COLLABORATIONS

Celgene corporation, USA for a Phase 2A Study to Evaluate The Safety And Pharmacokinetics of Luspatercept (ACE-536)
Crisperbits Pvt Ltd, Delhi for validation study of Path-Crisp SCA test
MedGenome Labs Ltd, Hyderabad for Understanding the genetic modifiers of sickle cell disease in India
Institute of Genomics and Integrated Biology (IGIB), New Delhi for working on gene therapy for Thalassemia and Sickle Cell Anemia
Aurelia Maggio, Dept of Hematology and Rare Diseases, Palermo, Italy to be a part of "Health Repository Data for developing an International Prognostic Scoring System for Thalassemia
Chrogene Aarogyam Biotech Private Limited for developing Non-invasive device for detecting Sickle Cell Anemia
VNR Vignana Jyothi Institute of Engineering and Technology, Hyderabad for Identification of Sickle Cell Anemia using Deep Neural Networks through Artificial Intelligence
Collaborated with Novartis in SWAY SURVEY and contributed data on 123 patients reflecting the Indian scenario at the international level

RESEARCH PROJECTS

No. of ongoing research projects: 7

No. of projects completed: 8

LIST OF PROJECTS

LIST OF PROJECTS COMPLETED

A Multicenter, Randomized, Double Blind, Placebo Controlled Study to Evaluate Safety and Efficacy of Orally administered NUV001 nutraceutical supplement in Sickle Cell Disease (SCD) patients.
B-VOCAL SCD – Burden of vaso-occlussive pain crisis: A cross sectional observational Study among patients with sickle cell disease in India
Ascertaining Serum Ferritin Levels in comparison with MRI in the clinical management of Beta Thalassemia Major.
Impact of sickle cell disease on patients’ daily lives, management strategies, and patient satisfaction levels: results from the International Sickle Cell World Assessment Survey
Determination of the effect of Mutations in HAMP and HFE genes on iron overload in patients with β-Thalassemia Major.
Non-invasive Point of care diagnostics for Sickle Cell Disease.
β -Thalassemia Disease Burden Mutation Micro ᵝ Profiling in Populations of Telangana
Amelioration of the severity of Beta thalassemia by modifier genes.
Precise Gene Correction of the Hemophilia B and Beta thalassemia disease mutations in Human Induced Pluripotent Stem Cells (hiPSCs) Using Gene Editing Nucleases for Cell-Based Therapy Duration in collaboration with Institute of Genomics and Integrative Biology (CSIR-IGIB
Sickle cell anaemia mission” (Genome editing and stem cell research approach for sickle cell anaemia) in collaboration with Institute of Genomics and Integrative Biology (CSIR-IGIB)

HUMAN RESOURCES:

S.No	Name of the Person	Designation	Working Status
1.	Dr. Suman Jain	Chief Medical Research Officer and Secretary	Full Time
2.	Dr. G. Padma	Research Scientist	Full Time
3.	Dr. Mamata M	Research Scientist	Full Time
4.	Dr. Sujai Suneetha	Research Technical Advisor	Part time
5.	Dr. V.R. Rao	Research advisor	Consultant
7.	Dr. K. Saroja	Medical Officer	Full Time
8.	Mr. Vamsi Kumar	Technician	Full Time
9.	Mr. Jaleel	Technician	Full Time
10.	Mr. Chandra	Technician	Full Time
11.	Mr. Bharath	Technician	Full Time
12.	Mr. Toufeeq Baig	Technician	Full Time
13.	Mrs. Farheen	Technician	Full Time
14.	Mr. Maneesh	X-Ray Technician	Full Time
15.	Mrs. Shobha	Phlebotomist	Full Time
16.	Miss. R. Rishita	Project Assistant	Full Time
17.	Mrs. T. Pavani	Data Entry	Full Time
18.	Dr. Manickam Tamilselvi	Clinical Research Co-ordinator	Full Time
19.	MBNR staff (6)	Technician	Full Time

SUBMITTED

Screening of antenatal women for hemoglobinopathies and newborns for metabolic genetic disorders in Jayashankar Bhupalpalli district, Telangana. Submitted to Department of Biotechnology under UMMID initiative. Three years. Rs. 3,00,25,380/-
Newborn Screening for Sickle Cell Disease: A Pilot study in Telangana Population. SERB under Core Research Grant. Three Years. Rs. 6992980/-
Influence of modifier genes and regulatory elements of β-globin gene on phenotypic expression of Thalassemia Intermedia. SERB under Start Up Research Grant. Two years. Rs.25,96,000/-

LIST OF PUBLICATIONS ON THALASSEMIA

Papers Published

Tulika Seth, Shashank Udupi, Suman Jain, Seema Bhatwadekar, Nandakumar Menon, Rabindra Kumar Jena, Ravindra Kumar, Shomik Ray, Bharat Parmar, Anil Kumar Goel, Ashvin Vasava, Anupam Dutta, Priyanka Samal, Riya Ballikar, Deepa Bhat, Tuphan Kanti Dolai, Jina Bhattacharyya, Disha Shetty, Manish Mistry, Dipty JainBurden of vaso‐occlusive crisis, its management and impact on quality of life of Indian sickle cell disease patients. British Journal of Haematology, 2024; 00:1-14
Gupta Pragya, Arvinden V. R., Thakur Priya, Bhoyar Rahul C., Saravanakumar Vinodh, Gottumukkala Narendra Varma, Goswami Sangam Giri, Nafiz Mehwish, Iyer Aditya Ramdas, Vignesh Harie, Soni Rajat, Bhargava Nupur, Gunda Padma, Jain Suman, Gupta Vivek, Sivasubbu Sridhar, Scaria Vinod, Ramalingam Sivaprakash. Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform. Frontiers in Mol Biosciences 2023; 10
Mamata, G. Padma, T Pragna Laxmi, K. Saroja, Ashwin Dalal Suman Jain. Identification of a novel variant c.163delG in HBB gene resulting in a beta null phenotype in a proband with Thalassemia Intermedia. Hemoglobin. 2024 Jan;48(1):1-3
Saroja Kondaveeti, Padma Gunda, et al Serum ferritin levels in comparison with MRI in the clinical management of Beta thalassemia major. Int J Current Research, 2023 15(4):24225-24229
Padma G, et al. Rare Phenomenon of Pseudodominance Causing Phenotypic Heterogeneity in the Expression of Delta Beta Thalassemia when Co-Inherited with Beta Mutation. Ann Med Health Sci Res. 2023;13:420-424
Padma, K Saroja, M. Mamata, A. Anitha, Suman Jain Prevalence of thalassemia and sickle cell anemia carrier frequency among antenatal women –A first study from Telangana Population’ Indian Journal of Obstetrics and Gynecology Research. 2023;10(1):32–35
Singh RK, Alur S, Jain S and Rao VR. Highly stratified population sickle cell frequencies and prevention in India. Human Biology Review, 2023, 12 (1), 13-21
Thakur, P.; Gupta, P.; Bhargava, N.; Soni, R.; Varma Gottumukkala, N.; Goswami, S.G.; Kharya, G.; Saravanakumar, V.; Gunda, P.; Jain, S.; Dass, J.; Aggarwal, M.; Ramalingam, S. A Simple, Cost-Effective, and Extraction-Free Molecular Diagnostic Test for Sickle Cell Disease Using a Noninvasive Buccal Swab Specimen for a Limited-Resource Setting. Diagnostics 2022, 12, 1765.
Osunkwo I, Andemariam B, Minniti CP, Inusa BPD, El Rassi F, Francis-Gibson B, Nero A, Trimnell C, Abboud MR, Arlet JB, Colombatti R, de Montalembert M, Jain S, Jastaniah W, Nur E, Pita M, DeBonnett L, Ramscar N, Bailey T, Rajkovic-Hooley O, James J. Impact of sickle cell disease on patients’ daily lives, symptoms reported, and disease management strategies: Results from the international Sickle Cell World Assessment Survey (SWAY). Am J Hematol, 2021; 96(4):404-417.
Priya Thakur, Nupur Bhargava, Shashank Jaitly, Pragya Gupta, Saurabh Kumar Bhattacharya, Padma, Saroja Kondaveeti, Suman Jain, Sivaprakash Ramalingam. Establishment and characterization of induced pluripotent stem cell line (IGIBi002-A) from a β-thalassemia patient with IVS1-5 mutation by non-integrating reprogramming approach. Stem Cell Research, 2021; 50:102124
Vadlamudi R. Rao, Gaurav Gupta, Kondaveeti Saroja, Suman Jain. Identification and Development of a High-Risk District Model in the Prevention of β-Thalassemia in Telangana State, India. Hemaglobin, 2020; 44(5):371-375
Abhinav Jain, Rahul C Bhoyar, Kavita Pandhare, Anushree Mishra, Disha Sharma, Mohamed Imran, Vigneshwar Senthivel, Mohit Kumar Divakar, Mercy Rophina, Bani Jolly, Arushi Batra, Sumit Sharma, Sanjay Siwach, Arun G Jadhao, Nikhil V Palande, Ganga Nath Jha, Nishat Ashrafi, Prashant Kumar Mishra, Vidhya A. K., Suman Jain, Debasis Dash, Nachimuthu Senthil Kumar, Andrew Vanlallawma, Ranjan Jyoti Sarma, Lalchhandama Chhakchhuak, Shantaraman Kalyanaraman, Radha Mahadevan, Sunitha Kandasamy, Pabitha B. M., Raskin Erusan Rajagopal, Ezhil Ramya J., Nirmala Devi P., Anjali Bajaj, Vishu Gupta, Samatha Mathew, SangamGoswami, Mohit,Mangla, Savinitha Prakash, Kandarp Joshi, Meyakumla, Sreedevi S., Devarshi Gajjar, Ronibala Soraisham, Rohit Yadav, Yumnam Silla Devi, Aayush Gupta, Mitali Mukerji, Sivaprakash Ramalingam, Binukumar B. K., Vinod Scaria, Sridhar Sivasubbu. IndiGenomes: a comprehensive resource of genetic variants from over 1000 Indian genomes. Nucleic Acids Research, 2021;49(D1): D1225-D1232
James, John & Andemariam, Biree & Inusa, Baba & El-Rassi, Fuad & Francis-Gibson, Beverly & Nero, Alecia & Minniti, Caterina & Trimnell, Cassandra & Abboud, Miguel & Arlet, Jean-Benoît & Colombatti, Raffaella & Montalembert, Mariane & Jain, Suman & Jastaniah, Wasil & Nur, Erfan & DeBonnett, Laurie & Osunkwo, Ifeyinwa. Management Strategies and Satisfaction Levels in Patients with Sickle Cell Disease: Interim Results from the International Sickle Cell World Assessment Survey (SWAY). Blood, 2019; 134(Supplement-1):1017.
Bhargava Nupur, Jaitly Shashank, Goswami Sangam, Jain Suman, Chakraborty, Debojyoti, Ramalingam Sivaprakash. Generation and characterization of induced pluripotent stem cell line (IGIBi001-A) from a sickle cell anemia patient with homozygous β-globin mutation. Stem Cell Research, 2019; 39:101484.
Sundaram Acharya, Arpit Mishra, Deepanjan Paul, Asgar Hussain Ansari, Mohd. Azhar, Manoj Kumar, Riya Rauthan, Namrata Sharma, Meghali Aich, Dipanjali Sinha, Saumya Sharma, Shivani Jain, Arjun Ray, Suman Jain, Sivaprakash Ramalingam, Souvik Maiti, Debojyoti Chakraborty. Francisella novicida Cas9 interrogates genomic DNA with very high specificity and can be used for mammalian genome editing. Proceedings of the National Academy of Sciences, 2019; 116(42):20959-20968.
Agarwal RK, Sedai A, Ankita K, Parmar L, Dhanya R, Dhimal S, Sriniwas R, Gowda A, Gujjal P, H P, Jain S, Ramaiah JD, Jali S, Tallur NR, Ramprakash S, Faulkner L. Information Technology-Assisted Treatment Planning and Performance Assessment for Severe Thalassemia Care in Low- and Middle-Income Countries: Observational Study. JMIR Med Inform, 2019; 7(1): e9291.
Gayatri Rangarajan Iyer, Aruna Priya Kamireddy, Saroja Kondaveeti, Suman Jain, Qurratulain Hasan. Establishing Mutational Spectrum of Beta Thalassemia by Molecular Screening in a Low Resource Setting – Implications in Counseling and Prevention. International Journal of Public Health and Health Systems, 2019; 4(2): 36-43
Parmar L, Sedai A, Ankita K, Dhanya R, Agarwal RK, Dhimal S, Shriniwas R, Iyer HV, Gowda A, Gujjal P, Pushpa H, Jain S, Kondaveeti S, Dasaratha Ramaiah J, Raviteja, Jali S, Tallur NR, Ramprakash S, Faulkner L. Can inequity in healthcare be bridged in LMICs Multicentre experience from thalassemia day care centres in India. Pediatric Hematology Oncology Journal 2017; 2:88-93
Agarwal RK, Sedai A, Ankita K, Parmar L, Dhanya R, Dhimal S, Shriniwas R, Sumithra P, Hemanth V Iyer, Gowda A, Gujjal P, Pradeep R, Pushpa H, Jain S, Kondaveeti S, Dasaratha Ramaiah J, Raviteja, Sharma H, Jali S, Viragi S, Bobati S, Tallur NR, Ramprakash S, Faulkner L, Multiinstitutional, retrospective review of blood transfusion practices and outcomes in a large cohort of thalassemia patients in South India. Pediatric Hematology Oncology Journal 2017; 2(4): 74-78.