Abstract
Introduction: Haemoglobinopathies are abnormal hemoglobin related disorders which constitute major bulk of non communicable genetic disease worldwide and in India.
Aim of the Study: To detect clinically significant hemoglobinopathy by analyzing hematological profile and CE- HPLC (High Performance Liquid Chromatography) with associated limitations – a lab perspective.
Materials and Methods: This study was carried out in the Department of Pathology, North District Hospital over a period of 2 years.(January 2017 to 2019). HbA, HbA2, HbF and other variants of hemoglobin were studied by HPLC
Results: 1084 patients were tested, 130 cases were detected having abnormal hemoglobin pattern on chromatogram.β Thalassemia trait constituted 89 cases followed by HbE trait (10 cases), HbS (7 cases), β Thalassemia major (4 cases) compound HbE with β Thalassemia (4 cases), HbS disease (3 cases) , HbD (3) ,δβ Thalassemia (3 cases), HPFH (2 cases) ,Compound HbE with δβ Thalassemia (1 case) , HbE disease (3 cases) and Compound HbS with β thalassemia (1 case). Additionally 18 cases (3 with abnormal initial peaks, 1 with high P3 and 14 cases with Borderline HbA2) were noted and 3 cases of borderline HbA2 were noted having macrocytic anemia
Conclusion: The present study provides a comprehensive data of the spectrum of hemoglobinopathies identified at North district hospital Goa reflecting the magnitude of the problem which may be just the tip of the iceberg. Hence, preventive and control measures need to be taken by the policy makers and the health care department of the state.
References
- Prevention and control of hemoglobinopathies in India - thalassemias, sickle cell disease and other variant hemoglobins National Health Mission (NHM), Ministry of Health & Family Welfare, Government of India, (2016)
- Past, present & future scenario of thalassaemic care & control in India Ishwar C. Verma, Renu Saxena & Sudha Kohli. Indian J Med Res 134, October 2011, pp 507-521
- The burden of haemoglobinopathies in India and the challenges ahead R. S. Balgir. Current science, vol. 79, no. 11, 10 December 2000
- The Burden of Haemoglobinopathies in India - Time to Wake Up? MB Agarwal. JAPI 53 December 2005, pg 1017 to 1018
- Spectrum of haemoglobinopathies diagnosed by cation exchange-HPLC & modulating effects of nutritional deficiency anaemias from north India. Seema Rao, Rakhee Kar, Sanjeev Kumar Gupta. Indian J Med Res. 2010 Nov; 132(5): 513–519.
- Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study Mohanty, R. B. Colah, A. C. Gorakshakar et al . J Community Genet. 2013 Jan; 4(1): 33–42
- Bio- Rad laboratories haemoglobin testing d10 testing system. Library of chromatograms.
- Bio- Rad VARIANT™ II β-thalassemia Short Program
- β-Thalassemia mutations in subjects with borderline HbA₂ values: a pilot study in North India. Rangan A, Sharma P, Dadu Tet al. Clin Chem Lab Med.2011 Sep 6; 49(12):2069-72. doi: 10.1515/CCLM.2011.696
- Spectrum of Haemoglobinopathies in Anaemic Patients Admitted in Tertiary Care Hospital in Jharkhand”. Dr. Sujeet Marandi MD, Dr. Rishi Tuhin Guria MD, Dr. Poonam Kumari MS. IOSR Journal of Dental and Medical Sciences (IOSR-JDMS). 2279-0861.Volume 16, Issue 8 Ver. III (Aug. 2017), PP 71-73
- Detection of Hemaglobinopathies in Anemic Children by HPLC method – A Hospital Based Study Dr. Mukesh Kumar Niraj ,Dr. Pradeep Prasad IOSR Journal of Dental and Medical Sciences. ((IOSR _ JDMS) e - ISSN .2279-0853, p-ISSN: 2279-0861.Volume 16, Issue 6 Ver. VIII (June. 2017), PP 73-77.
- Galanello R, Elefthereiou A, Traeger – Synodinos J , Old, J Petrou, , Angastiniotis M . Prevention of Thalassaemias and Other Haemoglobin Disorders. Thalassemia international Federation 2003, Vol.1
- Giordano P.C Carrier diagnostics and Prevention of Hemoglobinopathies using high performance liquid Chromatography , Bio – Rad laboratories 2006.
Corresponding Author
Dr Varsha Shailendra Munj
Department of Pathology, North district Hospital, Peddem Mapusa – Goa Pin Code 403507