Role of thalassemia screening in prevention and control of thalassemia - a 5 year experience

Authors

  • Suman Lata Mendiratta Project Coordinator Thalassemia Control Program, North Delhi Municipal Corporation, Consultant Gynaecologist, North DMC Medical College and Hindu Rao Hospital, New Delhi, India
  • Meenakshi Mittal CMO North DMC Medical College and Hindu Rao Hospital, New Delhi, India
  • Farha Naaz Junior Resident, North DMC Medical College and Hindu Rao Hospital, New Delhi, India
  • Sompal Singh Senior Pathologist North DMC Medical College and Hindu Rao Hospital, New Delhi, India
  • Smriti Anand Department of Obstetrics and Gynaecology, North DMC Medical College and Hindu Rao Hospital, New Delhi, India

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20162995

Keywords:

Thalassemia, HPLC, Patients

Abstract

Background: Thalassemia is a commonest genetic blood disorder in India which can be prevented by antenatal screening and prenatal diagnosis. Aim of the study was to screen antenatal women and their spouses to detect “couples at risk” of thalassemia major births and offering them genetic counseling and option of prenatal diagnosis thereby preventing the birth of thalassemia major babies.

Methods: Thalassemia screening for antenatal women was done by NESTROFT test and RBC Indices (MCV, MCH, and RBC count). Confirmation of diagnosis was done by HPLC test. Husbands of women testing positive on HPLC were also tested and couples at risk detected. They were counseled and referred for prenatal genetic diagnosis. Women carrying thalassemia major fetus were advised termination and those with normal and thalassemia minor fetus were advised to continue pregnancy.

Results: A total of 93871 patients were screened and HPLC was done on 10983 patients. 7.07% had one or the other hemoglobinopathies and 5.8% had beta thalassemia trait. Among antenatal beta thalassemia trait was found in 5.02%, HbD in 0.36%, HbE in 0.58% and HbS 0.05%. Forty two “at risk couples” (both husband and wife thalassemia trait) were identified, 16 of these underwent prenatal diagnosis and 3 thalassemia major births were terminated.

Conclusions: Lack of awareness, late registration, husbands not coming/turning up for their test and “at risk couples” opting out of prenatal diagnosis are the cause of thalassemia major births which can be prevented if awareness is generated amongst masses, screening and prenatal genetic diagnosis services are made widely available.

References

Verma IC, Choudhary VP, Jain PK. Prevention of thalassemia: a necessity In India. Indian J pediatr. 1992;59:649-54.

Madan N, Sharma S, Sood SK, Colah R, Bhatia HM. Frequency of beta-thalassemia trait and other hemoglobinopathies in northern and western India. India J Hum Genet. 2010;16(1)16-25.

Modell B, Petrou M. The problem of the hemoglobinopathies in India. Ind J Hematol. 1983;1:5-16.

Abolghasemi H, Amid A, Zeinali S, Radfar MH, Esghi P, Rahimnejad MS, et al. Thalassemia in Iran: epidemiology, prevention and management. J Pediatr Hematol Oncol. 2007;29:223-8.

Colah R, Surve R, Wadia M, Solanki P, Mayekar P, Thomas M, et al. Carrier screening for B thalassemia during pregnancy in India: a 7 year evaluation. Genetic Testing. 2008;12(2):181-5.

Colah RB, Gorakshakar A, Surve E, Wadia M, Ghosh K, Mohanty D. Feasibility of antenatal screening of β-thalassemia in Mumbai, India. Acta Heamatol. 2001;105:252.

Sukumarn PK. Abnormal hemaglobins in India. In: Sen NN, Basu AK, editors. Trendes in hematology. Calcutta: Saraswati press;1975.

Mehta BC, Dave VB, Joshi SR, Baxi AJ, Bhatia HM, Patel JC. Study of hematological and genetical characteristics of Cutchi Bhanushali community. Indian J Med Res. 1972;60:305-11.

Balgir RS. Spectrum of hemoglobinopathies in the state of Orissa, India; a ten years cohort study. JAPI. 2005;53:1021-6.

Bhukhanwala DS, Sorathiya SM, Sawant P, Colah R, Ghosh K, Gupte SC. Antenatal screening for identification of couples for prenatal diagnosis of severe hemoglobinopathies in Surat, South Gujrat. J Obstet Gynae India. 2013;63(2):123-7.

Baxi A, Manila K, Kadhi P, Heenaet B. Carrier screening for B thalassemia in pregnant Indian women. Experience at a single Centre in Madhya Pradesh. Indian journal of Hematology and Blood transfusion. 2013;29(2):71-4.

Sharma A. Hemoglobinopathies in India. In: peoples of India: some genetical aspects. New Delhi: ICMR; 1983:31-49.

Mohanty D, Colah RB, Gorakshakar AC, Patel RZ, Master DC, Mahanta J, et al. Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. J Community Genet. 2013;4(1):33-42.

Bhatia HM, Rao VR. Genetic atlas of Indian tribes. Mumbai: Institute of Immunohaematology (ICMR); 1987.

Ghosh K, Colah R. Control and management of thalassemia and other hemoglobinopathies in the Indian Subcontinent-Synoptic Views. 2008:36.

Downloads

Published

2017-02-03

Issue

Section

Original Research Articles