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Antenatal Screening for Haemoglobinopathies by Using High Performance Liquid Chromatography

Anuja M Patil , Anjali J Kelkar1 , Anuja M Patil2 , Amit R Nisal3 , Anu Christopher4 , Ravindra C Nimbargi5

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Indian Journal of Pathology: Research and Practice 8(5):p 533-542, September-October 2019. | DOI: DOI: http://dx.doi.org/10.21088/ijprp.2278.148X.8519.3

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Anjali J Kelkar, Anuja M Patil, Amit R Nisal, et al. Antenatal Screening for Haemoglobinopathies by Using High Performance Liquid Chromatography. Indian J Pathol Res Pract. 2019;8(5):533–542
 

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Abstract

Clinical manifestation of Haemoglobinopathies may vary from asymptomatic state to severe, lifelong, transfusion dependant anemia and reduced life expectancy. About 1.1% of couples around the world are at risk for having children with a hemoglobin disorder of which 2.7 per 1000 conceptions are actually affected. Screening of Antenetal cases for haemoglobinopathies has a very vital role in preventing thalassaemia births. In this study 674 antenatal cases who were registered at their first visit were screened for Haemoglobinopathies. Clinical history, haematological parameters using LH750 (Beckman Coulter) and Peripheral blood smears were recorded. Whole blood EDTA samples were run on BioRad Variant II Hb-HPLC system (considered as gold standard for haemoglobinopathy secreening) for Hb F and Hb A2 quantification and detection of variant haemoglobins. The results were interpreted based on% of the eluted Haemoglobins and CBC data. Out of 674 cases, 307 (45.55%) showed Normal study, 309 (45.85%) were found to have Hb HPLC Normal Pattern with abnormal RBC indices suggestive of iron deficiency, 45 (6.68%) were found to be Heterozygous for Beta Thalassaemia, 5 (0.74%) Heterozygous for Hb sickle, 3 (0.45%) Heterozygous for Hb sickle with Alpha Thalassemia, 2 (0.30%) Heterozygous Delta Beta Thalassemia, 1 (0.15%) Heterozygous for Hb E, 1 (0.15%) Heterozygous for Hb D coinheritance of Beta Thalassemia to be investigated, 1 (0.15%) Heterozygous for Hb-HOFU. In this study, heterozygous beta thalassemia was the commonest haemoglobin disorder, followed by heterozygous Hb- Sickle and other Hb variants (Fig. 1). We recommend Antenatal screening for haemoglobinopathies in all ANC to rule out haemoglobinopathies because carriers haemoglobinopathies are asymptomatic. With effective screening of the spouse of the carrier women and genetic counseling will greatly help in preventing the disease. Cases with associated deficiency anaemias need further follow up after complete course of haematinics

Keywords: ANC; HPLC; Haemoglobinopathies

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Cite this article

Anjali J Kelkar, Anuja M Patil, Amit R Nisal, et al. Antenatal Screening for Haemoglobinopathies by Using High Performance Liquid Chromatography. Indian J Pathol Res Pract. 2019;8(5):533–542
 

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DOI: DOI: http://dx.doi.org/10.21088/ijprp.2278.148X.8519.3

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