Institute of Genetic Medicine and Genomic Science

Kolkata, India

Institute of Genetic Medicine and Genomic Science

Kolkata, India
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Bhattacharyya K.K.,Imambara Sadar Hospital | Chatterjee T.,Institute of Genetic Medicine and Genomic Science | Mondal U.B.,Imambara Sadar Hospital
Hemoglobin | Year: 2016

We here present a report of population screening programs (January 2012–December 2015) conducted by the Thalassemia Control Unit, Imambara Sadar Hospital, Chinsurah, Hooghly in the Hooghly District of West Bengal, India for prevention of thalassemia. We screened β-thalassemia (β-thal) heterozygotes and homozygotes, and Hb E (HBB: c.79G > A)-β-thal compound heterozygotes. Among 21 137 cases, we found 1968 heterozygotes and 192 homozygotes or compound heterozygotes. Results were evaluated with standard hematological analyses including red cell indices, hemoglobin (Hb) typing and quantification. The participants of the screening program were divided into six groups (children, pre-marriage cases, post-marital cases, family members of affected individuals, family members of carriers and pregnant women). While considering the average frequency of carriers, many reports recorded both related individuals (family members of trait and affected individuals) as well as unrelated individuals such as school children and pregnant women. These would have to be considered separately and only the unrelated individuals taken to estimate carrier frequencies in this article that would give more realistic data on carrier frequency of unrelated individuals. © 2017 Informa UK Limited, trading as Taylor & Francis Group.


De P.,Institute of Genetic Medicine and Genomic Science | Chakravarty S.,Institute of Genetic Engineering | Chakravarty A.,Institute of Genetic Engineering
International Journal of Infertility and Fetal Medicine | Year: 2017

Purpose: Spontaneous abortion has been reported in 15 to 20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation (RT) is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. Robertsonian translocation carriers, especially 21-14, are the most common balanced rearrangement among the carrier couples with a history of spontaneous abortion. Materials and methods: Cytogenetic analysis was carried out based on phytohemagglutinin-stimulated peripheral blood lymphocyte cultures and without phytohemagglutinin-stimulated amniocyte culture. Lymphocyte and amniocyte culturing and GTG banding were performed following standard protocols as described by the Association of genetic technologists (AGT) Cytogenetics Laboratory Manual. Results: Cytogenetic evaluation of both the partners and the child revealed that the child had translocated Down’s syndrome and the mother was a carrier of balanced RT of 14q;21q. Amniocentesis of the next pregnancy and detection of chromosomal abnormality in the fetus was done by fluorescence in situ hybridization (FISH) analysis of the amniotic cells with 13,18,21,X,Y probe mix found normal chromosomal constituent in the fetus. Conclusion: The present study shows that genetic counseling, cytogenetic evaluation, prenatal diagnosis by amniocentesis, and FISH together help couples with nonhomologous RT and history with syndromic child and repeated abortions to get normal offspring. © 2017 Jaypee Brothers Medical Publishers (P) Ltd. All rights reserved.


Majumdar S.,Institute of Genetic Medicine and Genomic Science | Maiti A.,Presidency College | Karmakar S.,Tripura Institute of Paramedical science | Sekhar Das A.,Tripura Institute of Paramedical science | And 3 more authors.
Environmental Toxicology | Year: 2012

Earlier, we proposed that the ability of folic acid and vitamin B12 to preserve systemic and mitochondrial function after short-term exposure to arsenic may prevent further progression to more permanent injury and pathological changes leading to cell death. To elucidate its mechanism, the present study examined the antiapoptotic efficacy of folic acid and vitamin B12 against short-term arsenic exposure-induced hepatic mitochondria oxidative stress and dysfunction. Sixteen to eighteen weeks old male albino rats weighing 140-150 × g were divided into five groups: Control (A), Arsenic-treated (B), Arsenic + folic acid (C), Arsenic +vitamin B12 (D), and Arsenic + folic acid + vitamin B12 (E). Data generated indicated that folic acid and vitamin B12 separately or in combination can give significant protection against alterations in oxidative stress and apoptotic marker parameters and downstream changes in mitochondria, namely pro-oxidative (NO, TBARS, OH-) and antioxidative defense (SOD, CAT, GSH) markers, iNOS protein expression, mitochondrial swelling, cytochrome c oxidase and Ca2+-ATPase activity, Ca2+ content, caspase-3 activity. Additionally, results of hepatic cell DNA fragmentation, arsenic load of blood, hepatic tissue and urine, and histological observations, all strongly support that both these supplements have efficacy in preventing apoptotic changes and cellular damage. As the mechanisms of actions of both of these supplements are methylation related, a combined application was more effective. Results further reveal new molecular targets through which folic acid and vitamin B12 separately or in combination work to alleviate one critical component of arsenic-induced liver injury: mitochondria dysfunction. © 2010 Wiley Periodicals, Inc.


Chakravarty A.,Institute of Genetic Medicine and Genomic Science | Chakravarty S.,Institute of Genetic Medicine and Genomic Science
Journal of Prenatal Diagnosis and Therapy | Year: 2010

Genomic rearrangements play a major role in the pathogenesis of human genetic diseases. Nonallelic homologous recombination (NAHR) between low-copy repeats (LCRs) that flank unique genomic segments results in changes of genome organization and can cause a loss or gain of genomic segments. These LCRs appear to have arisen recently during primate speciation via paralogous segmental duplication, thus making the human species particularly susceptible to genomic rearrangements. Genomic disorders are defined as a group of diseases that result from genomic rearrangements, mostly mediated by NAHR. Molecular investigations of genomic disorders have revealed genome architectural features associated with susceptibility to rearrangements and the recombination mechanisms responsible for such rearrangements. The human genome sequence project reveals that LCRs may account for 5% of the genome, suggesting that many novel genomic disorders might still remain to be recognized.


De P.,Institute of Genetic Medicine and Genomic science | Chakravarty S.,Institute of Genetic Engineering | Chakravarty A.,Institute of Genetic Engineering
Journal of Human Reproductive Sciences | Year: 2015

Two couples with a history of recurrent pregnancy losses were referred to the Institute of Genetic Medicine and Genomic Science for cytogenetic evaluation. Chromosomal analysis of the phenotypically normal couples was done to investigate whether there are any new chromosomal abnormalities present in either of the couples caused recurrent pregnancy losses. Clinical and hormonal profile of the couples revealed normal parameters. The ultrasound scan of the females showed normal uterine and ovarian structures. Chromosomal analysis of the couples revealed normal 46, XY karyotypes in the both the male partners, and novel balanced reciprocal translocations 46, XX, t (5;8) (q35.3;q24.23) and 46, XX, t (4;13) (q12;q14) chromosomal constitutions in the female partners. Further, corroboration of the chromosome abnormalities was carried out by high resolution banding analysis. Unique and novel balanced reciprocal translocations were reported as an original investigation in two female partners from two different unrelated families both with the history of recurrent pregnancy losses. © 2015 Journal of Human Reproductive Sciences.


Chatterjee T.,Institute of Genetic Medicine and Genomic Science | Chakravarty A.,Institute of Genetic Medicine and Genomic Science | Chakravarty S.,Thalassaemia Foundation | Chakravarty S.,Institute of Genetic Engineering
Hemoglobin | Year: 2015

We evaluated population screening programs (1999-2011), conducted by the Thalassaemia Foundation, Kolkata, India, for the first time in Eastern India in different districts of West Bengal, for prevention of thalassemia comprising screening of heterozygotes and β-thalassemia intermedia (β-TI) cases [β+, β++, β0/β+, βE/βE (codon 26 or HBB: c.79G > A), Hb-E-β-thalassemia (Hb E-β-thal)]. Among 18,166 cases, we found 2092 heterozygotes and 2245 β-TI individuals (who had no information about their disorders). Results were evaluated with standard hematological analyses including erythrocyte indices, hemoglobin (Hb) typing and quantification. Participants were divided into five groups (children, pre-marriage cases, pre-pregnancy cases, affected family members, pregnant women). The objectives of this evaluation were to fix cut-off values of red blood cells (RBCs), mean corpuscular volume (MCV), mean corpuscular Hb (MCH), red blood cell distribution width (RDW) and Hb A2, as the standard World Health Organization (WHO) guidelines were not strictly followed in mass-scale screening programs. We have observed many dilemmas in considering the status of the thalassemia subject, due to presence of some other clinical conditions such as iron deficiency anemia, α-thalassemia (α-thal), δ-thalassemia (δ-thal), clinically silent Hb variants, and some cases of non hemoglobinopathies (such as pregnancy) along with thalassemia. The MCV values varied greatly in different conditions of hemoglobinopathies, whereas MCH provided a more stable measurement. We found an MCH value of <27.0 pg is a suitable cut-off point for screening in this population. Participants with an MCH of <27.0 pg should be investigated further to confirm or exclude a diagnosis of β-thal trait. © 2015 Taylor & Francis.


PubMed | Institute of Genetic Medicine and Genomic Science, b Institute of Genetic Engineering and d Thalassaemia Welfare Center Bangladesh
Type: Journal Article | Journal: Hemoglobin | Year: 2015

Thalassemia is one of the most common autosomal recessive blood disorders in the world. It shows a variety of clinical expression, starting from asymptomatic to severe blood transfusion dependence. More than 500 alleles have been characterized in or around the -globin region. Moreover, most geographical regions have their own characteristics, frequency and availability of these alleles, predominantly circulating within the communities present in that particular region. In this study, we explored the spectrum of -thalassemia (-thal) alleles present in Chittagong, Southeast Bangladesh. This study comprises -thal and Hb E (HBB: c.79G>A) patients from in and around the area of Chittagong. Not only exploring the complete -globin mutation spectrum of the area, but we also tried to look at the origin of the mutated alleles. The -thal mutations of Bangladesh show a relatively wide spectrum of alleles, which further demonstrates the heterogeneity of the disease in this country. Although our study showed that the majority of the mutations have their origin in neighboring countries such as India, countries of Southeast Asia, Pakistan, etc., some unusual alleles do not originate in neighboring countries and put a little more diversity in the overall spectrum of -thal-specific alleles. Overall, this study demonstrates the mutation spectrum related to -thal in Chittagong, Southeast Bangladesh.


PubMed | Institute of Genetic Medicine and Genomic Science and Institute of Genetic Engineering
Type: Journal Article | Journal: Journal of pediatric genetics | Year: 2016

Here, we present two thalassemic patients (one male and one female), having unusual clinical phenotypes. Both had mental retardation in which one was associated with microcephaly and other had congenital cataract. They were referred to our institute for clinical evaluation and cytogenetic testing. Both patients were tested for presence of abnormal hemoglobin by high performance liquid chromatography and found to be thalassemic. Their -globin mutation was also determined by amplification refractory mutation system-polymerase chain reaction. The male patient was found to have intervening sequence 1-5 (G-C)/+, indicating -thalassemia trait and the female was found to have Cod 26 (G-A)/IVS 1-5 (G-C), indicating hemoglobin E- thalassemia. Their cytogenetic analysis of blood lymphocytes were studied with high-resolution GTG-banding analysis by using chromosome profiling (Cyto-vision software 3.6) on their chromosomes. Results revealed 46,XY,del(1)(p36.21) in the male and 46,XX,del(1)(p36.3) in the female. Their genotype variation showed (based on genome browser) significant gene loss which probably leads to marked phenotype variation. We believe, thalassemia with mental retardation associated with microcephaly and congenital cataract, both having loss in chromosome 1, p36 position, is reported probably first time from India. This report will definitely enlighten all concerns and add to the information in growing literature.


PubMed | Institute of Genetic Medicine and Genomic Science and b Thalassaemia Foundation
Type: Journal Article | Journal: Hemoglobin | Year: 2015

We evaluated population screening programs (1999-2011), conducted by the Thalassaemia Foundation, Kolkata, India, for the first time in Eastern India in different districts of West Bengal, for prevention of thalassemia comprising screening of heterozygotes and -thalassemia intermedia (-TI) cases [(+), (++), (0)/(+), (E)/(E) (codon 26 or HBB: c.79G>A), Hb-E--thalassemia (Hb E--thal)]. Among 18,166 cases, we found 2092 heterozygotes and 2245 -TI individuals (who had no information about their disorders). Results were evaluated with standard hematological analyses including erythrocyte indices, hemoglobin (Hb) typing and quantification. Participants were divided into five groups (children, pre-marriage cases, pre-pregnancy cases, affected family members, pregnant women). The objectives of this evaluation were to fix cut-off values of red blood cells (RBCs), mean corpuscular volume (MCV), mean corpuscular Hb (MCH), red blood cell distribution width (RDW) and Hb A2, as the standard World Health Organization (WHO) guidelines were not strictly followed in mass-scale screening programs. We have observed many dilemmas in considering the status of the thalassemia subject, due to presence of some other clinical conditions such as iron deficiency anemia, -thalassemia (-thal), -thalassemia (-thal), clinically silent Hb variants, and some cases of non hemoglobinopathies (such as pregnancy) along with thalassemia. The MCV values varied greatly in different conditions of hemoglobinopathies, whereas MCH provided a more stable measurement. We found an MCH value of <27.0pg is a suitable cut-off point for screening in this population. Participants with an MCH of <27.0pg should be investigated further to confirm or exclude a diagnosis of -thal trait.


PubMed | Institute of Genetic Medicine and Genomic Science
Type: Clinical Trial | Journal: Hemoglobin | Year: 2014

Thalassemia, an autosomal recessive blood disease, shows a variety of clinical expression in terms of asymptomatic to severe blood transfusion dependence. More than 500 alleles have been characterized in or around the -globin region. Most of the geographical regions have their own characteristic alleles that predominantly circulate within the communities present in that particular region. In this article, we try to throw some light to explore the spectrum of -thalassemia (-thal) alleles present in West Bengal, the eastern part of India. This study comprises thalassemia carriers and diseased persons from different districts of West Bengal. We not only explored the complete mutational spectrum of this state but we also tried to fix the critical range of the values of different hematological parameters [Hb A2, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH)] for the heterozygotes or carriers of -thal with the same mutational background. At the same time, we also tried to evaluate the maximum weighted frequency of these parameters for the heterozygotes or carriers of -thal with the same mutational background, so that by observing these cut-off values of standard hematological parameters, we were able to predict the carrier or diseased status for mass scale screening and also try to correlate the values of these parameters with different combinations of -thal mutation-specific alleles that can be more informative in mass scale (carrier) screening.

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