Molecular analysis and prenatal diagnosis of β thalassemias in the Saurashtra region of Gujarat

Authors

  • Varsha P. Sorathiya Department of Thalassemia, Indian Medical Scientific Research Foundation, Rajkot, Gujarat, India
  • Roshan B. Colah Department of Haematogenetics, National Institute of Immunohematology, KEM Hospital Campus, Parel, Mumbai, Maharashtra, India
  • Nishith A. Vachhani Department of Thalassemia, Indian Medical Scientific Research Foundation, Rajkot, Gujarat, India
  • Sanjeev L. Nandani Department of Thalassemia, Indian Medical Scientific Research Foundation, Rajkot, Gujarat, India
  • Daya J. Vekariya Department of Thalassemia, Indian Medical Scientific Research Foundation, Rajkot, Gujarat, India
  • Heena N. Kashiyani Department of Thalassemia, Indian Medical Scientific Research Foundation, Rajkot, Gujarat, India

DOI:

https://doi.org/10.18203/2394-6040.ijcmph20202017

Keywords:

β thalassaemia, Chorionic villus sampling, Amniocentesis, Prenatal diagnosis, Mutation analysis

Abstract

Background: Hemoglobinopathies pose a significant health burden in the Saurashtra region in western India. Identifying couples at- risk of having a child with a severe hemoglobin disorder prenatally can help in counseling with the option of prenatal diagnosis.

Methods: All pregnant carriers of β thalassemia were advised to screen their husbands. If both were carriers, they were counselled to undergo prenatal diagnosis. Prenatal diagnosis was done in 174 couples. Chorionic villus sampling was done at 10 to 12 weeks gestation and the tissue sample was sent to the Genetic laboratory for DNA analysis along with blood samples of the parents. If the couple came after 14 weeks of pregnancy, amniocentesis was done and amniotic fluid was sent for DNA analysis. If the fetus was affected, the option of termination of the pregnancy was given.

Results: In 50.5% of couples, the fetus was a carrier of β thalassemia, in 1.7% the fetus had hemoglobin E trait and in 23.0% the fetus was normal.  In 20.6% of couples, the fetus had β Thalassaemia major and after counseling, these couples opted for termination. 1.2% of couples had a fetus which was unaffected but remained in distinguished (normal/thalassemia carrier) while in 0.6% of cases the fetus had sickle-β thalassemia. In 1.2% of cases the result was inconclusive. In 1.2% of cases the results were not available for lack of follow up.

Conclusions: Screening antenatal women for identifying carriers and referring couples at-risk for prenatal diagnosis helped in preventing the birth of 36 thalassemia major children.

References

Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bulletin of the World Health Organization. 2008;86:480-7.

Sukumaran PK. Abnormal hemoglobins in India. In ‘Trends in Hematology’. Eds. Sen, N. N. and Basu, A. K. J. B. Chatterjee Memorial Committee, Calcutta; 1975:247-56.

Colah R, Italia K, Gorakshakar A. Burden of thalassemia in India: The road map for control. Pediatric Hematol Oncol J. 2017;2:79-84.

Inusha P, Marwaha R. Mutational spectrum of thalassemias in India. Indian J Hum Genet. 2007;13(1):36-7.

Colah R, Gorakshakar A, Nadkarni A. Invasive and non-invasive approaches for prenatal diagnosis of haemoglobinopathies: experiences from India. Indian J Med Res. 2011;134:552-60.

Gorakshakar A, Das M, Phanasgaokar S, Nadkarni A, Colah R, Mohanty D. Origin of the codon 47 (+ A) β‐thalassaemia mutation among the Nicobarese of the Andaman and Nicobar Islands in India. British J Haematology. 2007;139(2):345-6.

Edison E, Venkatesan R, Govindanattar S, George B, Shaji R. 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.

Colah R, Gorakshakar A. Control of thalassemia in India: Thalassemia Reports. 2014;4:1955.

Colah R, Gorakshakar A, Nadkarni A, Phanasgaonkar S, Surve R, Sawant P, et al. Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population. Blood Cells Mol Dis. 2009;42(3):241-6.

Saxena R, Jain P, Thomas E, Verma I. Prenatal diagnosis of beta-thalassaemia: experience in a developing country. Prenat Diagn. 1998;18(1):1-7.

Verma P, Ghildiyal A, Verma D, Krishna A, Singh S, Kumar A, et al. Prevalence of hemoglobin-opathies in different regions and castes of Uttar Pradesh, India-A hospital-based study. Asian J Med Sci. 2015;6(5):21-5.

Patel J, Patel A, Patel J, Kaur A and Patel V. Prevalence of Haemoglobinopathies in Gujarat, India: A Cross-Sectional Study. Int J Hematol. 2009;5:1.

Patel J, Shrivastav A, Joshi J, Agnihotri A, Kaur A, Thakkar B. Detection of hemoglobinopathies and thalasemias in population of Gujarat State using HPLC: Analysis of 2022 cases. Pathol Lab Med. 2012;4(2):80-4.

Thein S, Hesketh C, Wallace R, Weatherall D. The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: Application to prenatal diagnosis. Br J Haematol. 1988;70:225-31.

Varawalla N, Old J, Sarkar R, Venkatesan R, Weatherall D. The spectrum of beta-thalassaemia mutations on the Indian subcontinent: The basis for prenatal diagnosis. Br J Haematol. 1991;78:242-7.

Agarwal S, Hattori Y, Agarwal SS. Rare beta thalassemia mutation in Asian Indians. Am J Hematol. 2000;65(4):322-3.

Satpute S, Bankar M, Momin A. The prevalence of β-thalassemia mutations in south western Maharashtra. Indian J Clin Biochem. 2012;27(4):389-93.

Nigam N, Munshi N, Patel M, Soni A. Distribution of betathalassemia mutation and its correlation with alpha thalassemia inGujarati families. Int J Hum Genet. 2003;3(4):221-4.

Verma I, Saxena R, Thomas E, Jain P. Regional distribution of beta-thalassemia mutations in India. Hum genet. 1997;100(1):109-13.

Colah R, Dastur A, Aras A, Pawar A, Mudera V, Gorakshakar A. Prenatal diagnosis of Thallassemia in India: The first experience. J Obstetr Gynaecol India. 1991;4(6):733-8.

Thakur C, Vaz F, Banerjee M, Kapadia C, Natrajan P, Yagnik H, et al. Prenatal diagnosis of β‐thalassaemia and other haemoglobinopathies in India. Prenatal Diagnosis. Int Society Prenatal Diagnosis. 2000;20(3):194-201.

Gajra B, Chakraborti S, Sengupta B. Prenatal diagnosis of thalassaemias. Int J Human Genetics. 2002;2(3):173-8.

Agarwal S, Gupta A, Gupta U, Sarwai S, Phadke S, Agarwal SS. Prenatal diagnosis in beta-thalassemia: an Indian experience. Fetal Diagn Therapy. 2003;18(5):328-32.

Verma I, Saxena R, Lall M, Bijarnia S, Sharma R. Genetic counselling and prenatal diagnosis in India-experience at Sir Ganga Ram Hospital. Indian J Pediatr. 2003;70(4):293-7.

Garewal G, Das R, Jaur J, Marwaha R, Gupta I. Establishment of prenatal diagnosis for b thalassemia: a step towards its control in a developing country. Ann Hum Biol. 2005;32(2):138-44.

Colah R, Surve R, Wadia M, Solanki P, Mayekar P, Thomas M, et al. Carrier screening for β-thalassemia during pregnancy in India: A 7 years evaluation. Genet Test. 2008;12:181-5.

Tamhankar P, Agarwal S, Arya V, Kumar R, Gupta U, Agarwal SS. Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India. Prenal Diagn. 2009;29(1):83-8.

Bhukhanvala D, Sorathiya S, Sawant P, Colah R, Ghosh K, Gupte S. Antenatal screening for identification of couples for prenatal diagnosis for severe hemoglobinopathies in Surat, south Gujarat. J Obstet Gynaecol India. 2013;63(2):123-7.

Patel A, Patel R, Patel S, Vaniawala S, Patel D, Shrivastava N, et al. βthalassemia mutations in western India: outcome of prenatal diagnosis in a hemoglobinopathies project. Hemoglobin. 2014;38(5):329-34.

Gupta V, Sharma P, Jora R, Amandeep M, Kumar A. Screening for thalassemia carrier status in pregnancy and pre-natal diagnosis. Indian Pediatr. 2015;52:808-9.

Mahay BS, Arora V, Puri R, Lall M, Saxena R, Verma J, et al. The changing scenario in prenatal diagnosis of genetic disorders: Genetics to genomics. Curr Med Res Pract. 2018;8:203-8.

Bandyopadhyay R, Bandyopadhyay U, Basu K. Prenatal Diagnosis of Thalassaemia by Chorionic Villus Sampling: A Clinico-Hematological Study in a Government Medical College of Eastern India. IOSR J Dental Med Sci. 2019;18(8):15-20.

Downloads

Published

2020-04-24

How to Cite

Sorathiya, V. P., Colah, R. B., Vachhani, N. A., Nandani, S. L., Vekariya, D. J., & Kashiyani, H. N. (2020). Molecular analysis and prenatal diagnosis of β thalassemias in the Saurashtra region of Gujarat. International Journal Of Community Medicine And Public Health, 7(5), 1977–1981. https://doi.org/10.18203/2394-6040.ijcmph20202017

Issue

Section

Original Research Articles