National Institute of Immunohaematology ICMR

Navi Mumbai, India

National Institute of Immunohaematology ICMR

Navi Mumbai, India

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Fleisher T.A.,U.S. National Institutes of Health | Madkaikar M.,National Institute of Immunohaematology ICMR | Rosenzweig S.D.,U.S. National Institutes of Health
Indian Journal of Pediatrics | Year: 2016

Primary immunodeficiency disorders (PIDDs) are a heterogeneous group of inherited disorders of the immune system. Currently more than 250 different PIDDs with a known genetic defect have been recognized. The diagnosis of many of these disorders is supported strongly by a wide variety of flow cytometry applications. Flow cytometry offers a rapid and sensitive tool for diagnosis and classification of PIDDs. It is applicable in the initial workup and subsequent management of several primary immunodeficiency diseases. As our understanding of the pathogenesis and management of these diseases increases, the majority of these tests can be easily established in the diagnostic laboratory. Thus, the focus of this article is on the application of flow cytometry in the diagnosis and/or evaluation of PIDDs. © 2016, Dr. K C Chaudhuri Foundation.


Korgaonkar S.,National Institute of Immunohaematology ICMR | Ghosh K.,National Institute of Immunohaematology ICMR | Jijina F.,National Institute of Immunohaematology ICMR | Vundinti B.R.,Kem Hospital Campus
Journal of Pediatric Hematology/Oncology | Year: 2010

Chromosomal breakage investigation using diepoxybutane induction was carried out in 195 pediatric patients suspected with Fanconi anemia (FA). Chromosomal breakage evaluation showed 33 (17%) patients with classical FA, 9 (4%) with somatic mosaicism FA, (when at least 50% of the metaphases showed chromosomal breakage and radial figures), 25 (13%) with FA with high frequency of chromosomal breakage and without clinical features, and 128 (66%) with suspected FA but had no chromosomal breakage and clinical features of FA. Chromosomal breakage investigation is an important diagnostic tool for differentiating FA from idiopathic aplastic anemia. © 2010 by Lippincott Williams & Wilkins.


Vaidya S.,National Institute of Immunohaematology ICMR | Ghosh K.,National Institute of Immunohaematology ICMR | Vundinti B.R.,National Institute of Immunohaematology ICMR
European Journal of Haematology | Year: 2011

A revolution in medical science was marked with the advent of imatinib, a site-specific drug for the management of patients with chronic myeloid leukemia (CML). Imatinib mesylate (also known as Glivec, Gleevec, STI-571, CGP57148), an orally administered 2-phenylaminopyrimidine derivative approved by FDA in 2001 for the treatment for CML, is highly effective in treating the early stages of CML, but remission induced in advanced phase was observed to be relatively short-lived. The primary cause of resistance in patients with CML is the mutations in the BCR-ABL kinase domain. This review discusses the different mechanisms leading to imatinib resistance and various treatment options to over-ride imatinib resistance. © 2011 John Wiley & Sons A/S.


Dalal B.,National Institute of Immunohaematology ICMR | Shankarkumar A.,National Institute of Immunohaematology ICMR | Ghosh K.,National Institute of Immunohaematology ICMR
Indian Journal of Medical Research | Year: 2015

Combination therapy with three drug regimens for human immunodeficiency virus (HIV) infection significantly suppresses the viral replication. However, this therapeutic impact is restricted by adverse drug events and response in terms of short and long term efficacy. There are multiple factors involved in different responses to antiretrovirals (ARVs) such as age, body weight, disease status, diet and heredity. Pharmacogenomics deals with individual genetic make-up and its role in drug efficacy and toxicity. In depth genetic research has provided evidence to predict the risk of developing certain toxicities for which personalized screening and surveillance protocols may be developed to prevent side effects. Here we describe the use of pharmacogenomics for optimal use of HAART (highly active antiretroviral therapy). © 2015, Indian Journal of Medical Research. All rights reserved.


Mhatre S.,National Institute of Immunohaematology ICMR | Madkaikar M.,National Institute of Immunohaematology ICMR | Jijina F.,National Institute of Immunohaematology ICMR | Ghosh K.,National Institute of Immunohaematology ICMR
Journal of Pediatric Hematology/Oncology | Year: 2014

Background: Mutations of PRF1 gene have been identified in familial hemophagocytic lymphohistiocytosis type-2 (FHL-2) patients, and it has been reported as the commonest gene defect causing FHL. Patients with severe perforin deficiency usually present within first 1 year of life and with severe clinical manifestations.Observation: We report 4 cases of severe perforin deficiency presenting with delayed onset and unusual clinical presentations viz., B-cell acute lymphoblastic leukemia, the Hodgkin lymphoma, tuberculosis, and the Still disease. Three of these 4 cases showed a common heterozygous missense mutation (p.Trp129Ser). Two of these patients expired because of uncontrolled hemophagocytic lymphohistiocytosis, one patient had 3 relapses while on therapy and one patient was in remission on maintenance therapy.Conclusion: This study shows variety of clinical manifestations of perforin deficiency and although the onset of hemophagocytic lymphohistiocytosis is delayed in these patients, the outcome remains poor as in classical severe perforin deficiency patients. Copyright © 2014 by Lippincott Williams & Wilkins.


Colah R.B.,National Institute of Immunohaematology ICMR | Gorakshakar A.C.,National Institute of Immunohaematology ICMR | Nadkarni A.H.,National Institute of Immunohaematology ICMR
Indian Journal of Medical Research | Year: 2011

The thalassaemias and sickle cell disease are the commonest monogenic disorders in India. There are an estimated 7500 - 12,000 babies with β-thalassaemia major born every year in the country. While the overall prevalence of carriers in different States varies from 1.5 to 4 per cent, recent work has shown considerable variations in frequencies even within States. Thus, micromapping would help to determine the true burden of the disease. Although screening in antenatal clinics is being done at many centres, only 15-20 per cent of pregnant women register in antenatal clinics in public hospitals in the first trimester of pregnancy. There are only a handful of centres in major cities in this vast country where prenatal diagnosis is done. There is considerable molecular heterogeneity with 64 mutations identified, of which 6 to 7 common mutations account for 80-90 per cent of mutant alleles. First trimester foetal diagnosis is done by chorionic villus sampling (CVS) and DNA analysis using reverse dot blot hybridization, amplification refractory mutation system (ARMS) and DNA sequencing. Second trimester diagnosis is done by cordocentesis and foetal blood analysis on HPLC at a few centres. Our experience on prenatal diagnosis of haemoglobinopathies in 2221 pregnancies has shown that >90 per cent of couples were referred for prenatal diagnosis of β-thalassaemia after having one or more affected children while about 35 per cent of couples were referred for prenatal diagnosis of sickle cell disorders prospectively. There is a clear need for more data from India on non-invasive approaches for prenatal diagnosis.


Deshpande R.,National Institute of Immunohaematology ICMR
Blood Coagulation and Fibrinolysis | Year: 2016

Congenital combined deficiency of coagulation factors VII and X are mainly attributed to large deletions involving both the genes in chromosome 13 or occasionally due to the coincidental occurrence of independently occurring mutations. We report the molecular basis of congenital combined deficiency of factors VII and X in a 6-year-old female child. Direct DNA sequencing of both factor VII (F7) and factor X (F10) genes showed a novel homozygous missense mutation p.Cys90Tyr (c.307G>A) in exon 4 of F10. No mutations were detected in F7; however, the patient was homozygous for three polymorphic alleles known to be associated with reduced factor VII levels. The present case illustrates the synergistic effect of multiple polymorphisms resulting in phenotypic factor VII deficiency in the absence of a pathogenic mutation. Copyright © 2016 YEAR Wolters Kluwer Health, Inc. All rights reserved.


Colah R.B.,National Institute of Immunohaematology ICMR | Mukherjee M.B.,National Institute of Immunohaematology ICMR | Martin S.,National Institute of Immunohaematology ICMR | Ghosh K.,National Institute of Immunohaematology ICMR
Indian Journal of Medical Research | Year: 2015

The sickle gene is widespread among many tribal population groups in India with prevalence of heterozygotes varying from 1-40 per cent. Co-inheritance of the sickle gene with β-thalassaemia, HbD Punjab and glucose-6-phosphate dehydrogenase (G6PD) deficiency has also been reported. Most of the screening programmes in India now use high performance liquid chromatography (HPLC) analysis although the solubility test is also sensitive and cheap. Sickle cell disease (SCD) among tribal populations is generally milder than among non-tribal groups with fewer episodes of painful crises, infections, acute chest syndrome and need for hospitalization. This has partly been attributed to the very high prevalence of α-thalassaemia among these tribes as well as higher foetal haemoglobin levels. However, the clinical presentation is variable with many cases having a severe presentation. There is not much information available on maternal and perinatal outcome in tribal women with sickle cell disease. Newborn screening programmes for SCD have recently been initiated in Maharashtra, Gujarat, Odishaand Chattisgarh and monitoring these birth cohorts will help to understand the natural history of SCD in India. Prenatal diagnosis is acceptable by tribal families in India. The Indian Council of Medical research and the National Rural Health Mission in different states are undertaking outreach programmes for better management and control of the disease. © 2015, Indian Council of Medical Research. All rights reserved.


Mukherjee M.B.,National Institute of Immunohaematology ICMR | Colah R.B.,National Institute of Immunohaematology ICMR | Martin S.,National Institute of Immunohaematology ICMR | Ghosh K.,National Institute of Immunohaematology ICMR
Indian Journal of Medical Research | Year: 2015

It is believed that the tribal people, who constitute 8.6 per cent of the total population (2011 census of India), are the original inhabitants of India. Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is an X-linked genetic defect, affecting around 400 million people worldwide and is characterized by considerable biochemical and molecular heterogeneity. Deficiency of this enzyme is highly polymorphic in those areas where malaria is/has been endemic. G6PD deficiency was reported from India more than 50 years ago. the prevalence varies from 2.3 to 27.0 per cent with an overall prevalence of 7.7 per cent in different tribal groups. Since the tribal populations live in remote areas where malaria is/has been endemic, irrational use of antimalarial drugs could result in an increased number of cases with drug induced haemolysis. Therefore, before giving antimalarial therapy, routine screening for G6PD deficiency should be undertaken in those tribal communities where its prevalence is high. © 2015, Indian Council of Medical Research. All rights reserved.


Ghosh K.,National Institute of immunohaematology ICMR | Ghosh K.,KEM Hospital | Colah R.B.,National Institute of immunohaematology ICMR | Mukherjee M.B.,National Institute of immunohaematology ICMR
Indian Journal of Medical Research | Year: 2015

Haemoglobinopathies particularly haemoglobin S and E (HbS, HbE) and β-thalassaemia are important challenges for tribal populations in India. The HbS, HbE and β-thalassaemia genes are variably distributed across various tribal populations of India. HbE is mainly restricted in tribals of North-East, West Bengal, Odisha and those in Andaman and Nicobar islands. HbS has more extensive distribution in the country (10-40% trait frequency) and the homozygotes and double heterozygotes present with a wide array of morbidities. the morbidity varies greatly in different areas of the country due to differential co-inheritance of α-thalassaemia gene and interaction of various epistatic and environmental factors. Though substantial data on prevalence of these disorders exist, there is an urgent need to develop integrated hierarchical core facilities to manage the disease. Such centres will generate more data and will also explore areas of management which need more local attention. Newborn screening, genetic counselling, carrier detection, prenatal diagnosis along with management of cases should form the basic infrastructure of haemoglobinopathy management. Research in this areas should continue focusing on various challenges in care delivery, prevention and basic sciences on interaction of haemoglobinopathies with various other infections. © 2015, Indian Council of Medical Research. All rights reserved.

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