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Year : 2018  |  Volume : 32  |  Issue : 2  |  Page : 118-122

Antenatal carrier screening for thalassemia and related hemoglobinopathies: A hospital-based study

1 Department of Pathology, Lady Hardinge Medical College and Associated Hospitals, New Delhi, India
2 Department of Obstetrics and Gynaecology, Lady Hardinge Medical College and Associated Hospitals, New Delhi, India

Correspondence Address:
Dr. Khushboo Dewan
26, Amit Apartments, Sector-13, Rohini, New Delhi - 110 085
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jms.jms_5_17

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Background: Thalassemias are an important cause of morbidity and mortality worldwide. They create a huge emotional and financial deficit on the affected individuals and their families, society and the country. However, severely symptomatic disease can be prevented by various methods. Aims: The present study was undertaken with an aim to find the prevalence of carriers of thalassemia and other hemoglobinopathies in pregnant females and their husbands so as to identify the couples at risk of having severely affected children. Materials and Methods: The study included 2000 antenatal patients of microcytic hypochromic anemia detected on routine hematological examination. Various formulae used to differentiate between thalassemia and iron deficiency anemia were calculated. Serum ferritin levels were performed, and cases with normal or high serum ferritin were analyzed for hemoglobin variants by high-performance liquid chromatography using Bio-Rad variant II hemoglobin testing system-beta thalassemia short program. Results and Conclusion: Sixty-three of the 2000 women screened (3.15%) were identified as carriers of beta thalassemia trait and other hemoglobinopathies. Most of them that is 59 cases (2.95%) were beta thalassemia carriers while one each were carriers of HbE (0.05%), HbS (0.05%), HbD (0.05%), and double heterozygous for beta thalassemia and HbE. Among the various indices evaluated in the present study, Shine and Lal index could identify almost all cases of beta thalassemia carriers (98.3% sensitivity) whereas all the other indices could not be relied on in the identification of all the cases.

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