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Faculty
Dr. E. Eunice Sindhuvi
Dr. E. Eunice Sindhuvi, MSc, PhD
Professor
Haemoglobin E Iron Metabolism
Iron is an essential factor for many cell functions and is a major functional component of hemoglobin. Iron homeostasis is multifaceted and is tightly regulated, as increased iron stores are detrimental to he cell. With the recent advancements in molecular techniques and identification of new genes, we now understand the many links of iron metabolism and how it is handled in the body.
Genetic variants in several genes have been shown to influence the expression and function of them. I am interested in the role of genetic variants in the genes involved in iron homeostasis and how they influence the body iron status in addition to well established factors like nutrition and environmental factors, especially in iron deficiency anemia. We are also analyzing the role of these genetic variants in the heterogeneity of response to iron supplements. We are studying the influence of these genetic variants in the response to iron supplementation during pregnancy. When iron stores are limited during pregnancy, the fetus gets the priority for the iron at the expense of the mother. We are studying the mechanisms which facilitate this transport.
I am also working on the role of genetic factors influencing the phenotype in haemoglobin E syndromes. We are in the process of establishing a comprehensive genetic screening panel by NGS for primary immunodeficiency disorders and inherited bone marrow failure syndromes.
| No | Project Title | Funding Agency | Start Date | Duration |
|---|---|---|---|---|
| 1 | Are Polymorphisms in Iron Regulatory Genes Responsible For Phenotypic Differences in Iron Metabolism | DBT | 2010 | 3 Years (Completed) |
| 2 | Transcriptional and translational processes of βE gene [Principal Investigator] | DBT | 2009 | 5 Years (Completed) |
| 3 | Molecular characterization of genes involved in iron uptake, transport and storage in iron deficiency | DBT | 2008 | 3 Years (Completed) |
| 4 | Role of growth differentiation factor 15 (GDF15) in the regulation of iron metabolism in pregnancy under iron deficiency | DST | 2015 | 2 years (Ongoing) |
Journal Publications
- Chorionic villous sampling through transvaginal ultrasound approach: A retrospective analysis of 1138 cases. Kamath MS, Pradhan S, Edison ES, Velayudhan SR, Antonisamy B, Karthikeyan M, Mangalaraj AM, Kunjummen A, George K. J Obstet Gynaecol Res. 2016 Oct 42(10):1229-1235.
- Jayasree D, Shaji RV, George B, Mathews V, Srivastava A, Edison ES. Clinical, Hematological and Molecular Analysis of Homozygous Hb E (HBB: c.79G > A) in the Indian Population. Hemoglobin. 2016;40(1):16-9.
- Deshpande P, Kamalanathan N, Sampath E, George B, Shaji RV, Edison ES. Characterization of Clinical and Laboratory Profiles of the Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) in an Indian Population. Hemoglobin. 2015 Dec 39(6):415-8.
- Athiyarath R, Shaktivel K, Abraham V, Singh D, Bondu JD, Chapla A, George B, Srivastava A, Edison ES. Association of genetic variants with response to iron supplements in pregnancy. Genes Nutr. 2015 Jul 10(4):474
- Athiyarath R, George B, Abraham A, Viswabandya A, Srivastava A, Edison ES. Genetic modifiers of secondary iron overload in beta thalassemia major. Blood Cells Mol Dis. 2015 Mar 54(3):242-3. doi: 10.1016/j.bcmd.2014.12.006. Epub 2015 Jan 8. PubMed PMID: 25601433.
- Athiyarath R, George B, Mathews V, Srivastava A, Edison ES. Association of growth differentiation factor 15 (GDF15) polymorphisms with serum GDF15 and ferritin levels in β - thalassemia. Ann Hematol. 2014 Dec 93(12):2093-5.
- Mayuranathan T, Rayabaram J, Das R, Arora N, Edison ES, Chandy M, Srivastava A, Velayudhan SR. Identification of rare and novel deletions that cause (δβ)0-thalassaemia and hereditary persistence of foetal haemoglobin in Indian population. Eur J Haematol. 2014 Jun 92(6):514-20.
- Athiyarath R, Arora N, Fuster F, Schwarzenbacher R, Ahmed R, George B, Chandy M, Srivastava A, Rojas AM, Sanchez M, Edison ES. Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications. Br J Haematol. 2013 Nov 163(3):404-7.
- Devi GS, Arora N, Rajkumar SV, Edison ES, Srivastava A, Jayandharan GR. Fluorescent PCR-based gene dose analysis for detection of deletion mutations in carriers of haemophilia. Haemophilia. 2013 Nov 19(6):e377-80.
- Athiyarath R, Srivastava A, Edison ES. Molecular basis of primary iron overload in India and the role of serum-derived factors in hepcidin regulation. Ann Hematol. 2013 Jun 92(6):843-4.
- Alkindi SS, Alzadjali S, Daar S, Sindhuvi E, Wali Y, Pathare AV, Venugopal S, Lapoumeroulie C, Srivastava A, Krishnamoorthy R. A stepwise α-thalassemia screening strategy in high-prevalence areas. Eur J Haematol. 2013 Aug 91(2):164-9.
- Mathews V, George B, Viswabandya A, Abraham A, Ahmed R, Ganapule A, Sindhuvi E, Lakshmi KM, Srivastava A. Improved clinical outcomes of high risk β thalassemia major patients undergoing a HLA matched related allogeneic stem cell transplant with a treosulfan based conditioning regimen and peripheral blood stem cell grafts. PLoS One. 2013 Apr 26 8(4):e61637.
- Mayuranathan T, Rayabaram J, Edison ES, Srivastava A, Velayudhan SR. A novel deletion of β-globin promoter causing high HbA2 in an Indian population. Haematologica. 2012 Sep 97(9):1445-7.
- Jain S, Edison ES, Mathews V, Shaji RV. A novel δ-globin gene mutation (HBD:c.323G>A) masking the diagnosis of β-thalassemia: a first report from India. Int J Hematol. 2012 May 95(5):570-2.
- Edison ES, Sathya M, Rajkumar SV, Nair SC, Srivastava A, Shaji RV. A novel β-globin gene mutation HBB.c.22 G>C produces a hemoglobin variant (Hb Vellore) mimicking HbS in HPLC. Int J Lab Hematol. 2012 Oct 34(5):556-8.
- Edison ES, Venkatesan RS, Govindanattar SD, George B, Shaji RV. A novel 26 bp deletion [HBB: c.20_45del26bp] in exon 1 of the β-globin gene causing β-thalassemia major. Hemoglobin. 2012 36(1):98-102.
- Edison ES, Shaji RV, Chandy M, Srivastava A. Interaction of hemoglobin E with other abnormal hemoglobins. Acta Haematol. 2011;126(4):246-8.
- Preston FE, Lippi G, Favaloro EJ, Jayandharan GR, Edison ES, Srivastava A.Quality issues in laboratory haemostasis. Haemophilia. 2010 Jul 16 Suppl 5:93-9.
- Edison ES, Athiyarath R, Rajasekar T, Westerman M, Srivastava A, Chandy M. A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia. Br J Haematol. 2009 Dec 147(5):766-9.
- Edison ES, Bajel A, Chandy M. Iron homeostasis: new players, newer insights. Eur J Haematol. 2008 Dec 81(6):411-24.
- Edison ES, Shaji RV, Devi SG, Moses A, Viswabandhya A, Mathews V, George B,Srivastava A, Chandy M. Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. Clin Genet. 2008 Apr;73(4):331-7.
- Edison ES, Melinkeri SR, Chandy M. A novel missense mutation in glucose-6-phosphate dehydrogenase gene causing chronic nonspherocytic haemolytic anemia in an Indian family. Ann Hematol. 2006 Dec;85(12):879-80.
- Edison ES, Shaji RV, Srivastava A, Chandy M. Compound heterozygosity for Hb E and Hb Lepore-Hollandia in India; first report and potential diagnostic pitfalls. Hemoglobin. 2005 29(3):221-4.
- Edison ES, Shaji RV, Srivastava A, Chandy M. Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. Hemoglobin. 2005 29(3):189-95.
- Edison ES, Shaji RV, Devi SG, Kumar SS, Srivastava A, Chandy M. Hb Showa-Yakushiji [beta110(G12)Leu-->Pro] in four unrelated patients from west Bengal. Hemoglobin. 2005 29(1):19-25.
- Shaji RV, Eunice SE, Baidya S, Srivastava A, Chandy M. Determination of the breakpoint and molecular diagnosis of a common alpha-thalassaemia-1 deletion in the Indian population. Br J Haematol. 2003 Dec 123(5):942-7.
- Shaji RV, Edison ES, Poonkuzhali B, Srivastava A, Chandy M. Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis. Clin Chem. 2003 May 49(5):777-81. PubMed PMID: 12709369.
- Shaji RV, Edison ES, Krishnamoorthy R, Chandy M, Srivastava A. Hb Lepore in the Indian population. Hemoglobin. 2003 Feb 27(1):7-14. PubMed PMID: 12603088.
Education
| College/University | Description of Qualification | Duration | Class |
|---|---|---|---|
| V.V.V College for women, Virudhunagar. Madurai Kamaraj University, Madurai |
B.Sc (Bio-Chemistry) | 1993- 96 | First |
| Christian Medical College, Vellore T.N.MGR Medical University, Chennai |
M.Sc (Medical Bio-Chemistry) | 1996-99 | First |
| Christian Medical College, Vellore T.N.MGR Medical University, Chennai |
Ph.D "Molecular Genetics of Haemoglobin E" | 2002 - 06 | Not applicable |
Positions
| InstitutionPlace | Position | From (Date) | To (date) |
|---|---|---|---|
| Christian Medical College, Vellore |
Senior Demonstrator | 21.12.2000 | 20.12.2003 |
| Christian Medical College, Vellore |
Lecturer Gr.III | 21.12.2003 | 16.08.2006 |
| Christian Medical College, Vellore |
Lecturer Gr.II | 17.08.2006 | 16.08.2009 |
| Christian Medical College, Vellore |
Lecturer Gr.I | 17.08.2009 | 16.08.2011 |
| Christian Medical College, Vellore |
Assoc.Professor | 17.08.2011 | 16.08.2015 |
| Christian Medical College, Vellore |
Professor | 17.08.2015 | Till date |
Membership
International Bio-iron societySeminars/Symposia/Awards
- Received a full EC Marie Curie Action Scholarship to attend the "Second ESH-CLUB DU GLOBULE ROUGE ET DU FER EUROCONFERENCE ON DISORDERS OF IRON HOMEOSTASIS, ERYTHROCYTES AND ERYTHROPOIESIS" held at Cascais, Portugal from Nov 10-12, 2006
- CSIR-UGC Lectureship (1999)
- Linnaeus-Palmer award for teacher exchange program to visit Karolinska Instituet, Stockholm, Sweden 2015
- CDSA fellowship to visit NIH, Bethesda, Washington D.C -2016
RECENT ABSTRACTS IN INTERNATIONAL MEETINGS
Fifth Meeting of the International BioIron Society, London 2013
- MOLECULAR ANALYSIS OF GROWTH DIFFERENTIATION FACTOR 15 IN ANEMIA OF PREGNANCY
Rekha Athiyarath¹, Kalaiselvi Shaktivel¹, Daisy Singh² Vinod Joseph Abraham², Alok Srivastava¹ and Eunice Sindhuvi Edison¹ - ASSOCIATION OF SINGLE NUCLEOTIDE POLYMORPHISMS WITH TIBC AND ERYTHROCYTE COUNT IN IRON DEFICIENCY ANEMIA OF PREGNANCY IN INDIAN POPULATION
Rekha Athiyarath¹, Kalaiselvi Shaktivel ¹, Daisy Singh², Vinod Joseph Abraham², Alok Srivastava¹ and Eunice Sindhuvi Edison¹
American Society of Hematology, Atlanta, USA, 2012
- Rekha Athiyarath, Ramachandran V Shaji, Rayaz Ahmed, Biju George, Vikram Mathews, Alok Srivastava, and Eunice Sindhuvi Edison High Expression of p53 and Growth Differentiation Factor-15 in Beta-Thalassemia.Blood (ASH Annual Meeting Abstracts), Nov 2012; 120: 2130
- Rekha Athiyarath, Neeraj Arora, Rayaz Ahmed, Biju George, Mammen Chandy, Alok Srivastava, and Eunice Sindhuvi Edison Molecular and Functional Characterization of Two Novel Missense Mutations in Iron Transport Protein Causing Hypochromic Microcytic Anemia and Hemosiderosis Blood (ASH Annual Meeting Abstracts), Nov 2012; 120: 3202