Thalassaemia Carrier Detection during Antenatal Period: Single Centre Experience from Eastern India
Introduction: Haemoglobinopathies include thalassaemias and structural variants of haemoglobin affecting nearly 3 to 4 lac of newborns per year. Identification of the disorders as well as carrier stages is of utmost importance. Detection of spectrum of the diseases and also its prevention by populat...
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| Format: | Article |
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JCDR Research and Publications Private Limited
2019-12-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/13374/42673_CE[Ra1]_F(KM)_PF1(AG_SHU)_PFA(SHU)_PB(AG_SHU)_PN(SL).pdf |
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| author | Moupali Ghosh Keya Basu Subhrajyoti Karmakar Ananya Biswas Moumita Sengupta Uttara Chatterjee Madhumita Mukhopadhyay |
| author_facet | Moupali Ghosh Keya Basu Subhrajyoti Karmakar Ananya Biswas Moumita Sengupta Uttara Chatterjee Madhumita Mukhopadhyay |
| author_sort | Moupali Ghosh |
| collection | DOAJ |
| description | Introduction: Haemoglobinopathies include thalassaemias and structural variants of haemoglobin affecting nearly 3 to 4 lac of newborns per year. Identification of the disorders as well as carrier stages is of utmost importance. Detection of spectrum of the diseases and also its prevention by population screening at an incipient stage is important to reduce the global burden. Aim: To evaluate the epidemiology and early detection of carrier stages of haemoglobinopathies among antenatal mothers undergoing routine screening. Materials and Methods: This single centered, prospective, cross-sectional study was conducted from January 2015 to December 2017, amongst the antenatal mothers visiting the Thalassaemia Control Unit of Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India for a duration of three years, on a total of 7340 study population. The database was collected using a Linux Based Thalamon Software. Results: Out of a total number of 7340 subjects, on HPLC study, 91.7% were diagnosed as normal, 3.9% were diagnosed as β thalassaemia carriers, 3.8% as HbE carrier and 3.8% were diagnosed among others as HbD carriers, HbS carrier and Hereditary Persistent Foetal Haemoglobin (HPFH) traits. HbA2 levelswere found to be higher among the carrierstages in comparison to the normal individuals. Among the different haematological parameters assessed, MCV showed maximum variation. Conclusion: To reduce the global disease burden of thalassemia, identification of the carriers becomes essential, especially in the antenatal mothers. Cation-Exchange High-Performance Liquid Chromatography (CE-HPLC) serves as an appropriate tool for identification and quantification of normal Hb and its abnormal variants at its earliest. An effort is to create a mass awareness for detection of carrier states among antenatal mothers and further follow-up is indispensable to reduce the immense disease burden of haemoglobinopathies. |
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| format | Article |
| id | doaj.art-0b8b1f9a244b4c1d81cefdbf04e19252 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-11T18:52:54Z |
| publishDate | 2019-12-01 |
| publisher | JCDR Research and Publications Private Limited |
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| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-0b8b1f9a244b4c1d81cefdbf04e192522022-12-22T00:54:14ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2019-12-011312EC01EC0510.7860/JCDR/2019/42673.13374Thalassaemia Carrier Detection during Antenatal Period: Single Centre Experience from Eastern IndiaMoupali Ghosh0 Keya Basu1Subhrajyoti Karmakar2Ananya Biswas3Moumita Sengupta4Uttara Chatterjee5Madhumita Mukhopadhyay6Junior Resident, Department of Pathology, IPGME&R, Kolkata, West Bengal, India.Associate Professor, Department of Pathology, IPGME&R, Kolkata, West Bengal, India.Junior Resident, Department of Pathology, IPGME&R, Kolkata, West BengaL, India.Senior Resident, Department of Pathology, IPGME&R, Kolkata, West Bengal, India.Assistant Professor, Department of Pathology, IPGME&R, Kolkata, West Bengal, India.Professor, Department of Pathology, IPGME&R, Kolkata, West Bengal, India.Professor, Department of Pathology, IPGME&R, Kolkata, West Bengal, India.Introduction: Haemoglobinopathies include thalassaemias and structural variants of haemoglobin affecting nearly 3 to 4 lac of newborns per year. Identification of the disorders as well as carrier stages is of utmost importance. Detection of spectrum of the diseases and also its prevention by population screening at an incipient stage is important to reduce the global burden. Aim: To evaluate the epidemiology and early detection of carrier stages of haemoglobinopathies among antenatal mothers undergoing routine screening. Materials and Methods: This single centered, prospective, cross-sectional study was conducted from January 2015 to December 2017, amongst the antenatal mothers visiting the Thalassaemia Control Unit of Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India for a duration of three years, on a total of 7340 study population. The database was collected using a Linux Based Thalamon Software. Results: Out of a total number of 7340 subjects, on HPLC study, 91.7% were diagnosed as normal, 3.9% were diagnosed as β thalassaemia carriers, 3.8% as HbE carrier and 3.8% were diagnosed among others as HbD carriers, HbS carrier and Hereditary Persistent Foetal Haemoglobin (HPFH) traits. HbA2 levelswere found to be higher among the carrierstages in comparison to the normal individuals. Among the different haematological parameters assessed, MCV showed maximum variation. Conclusion: To reduce the global disease burden of thalassemia, identification of the carriers becomes essential, especially in the antenatal mothers. Cation-Exchange High-Performance Liquid Chromatography (CE-HPLC) serves as an appropriate tool for identification and quantification of normal Hb and its abnormal variants at its earliest. An effort is to create a mass awareness for detection of carrier states among antenatal mothers and further follow-up is indispensable to reduce the immense disease burden of haemoglobinopathies.https://jcdr.net/articles/PDF/13374/42673_CE[Ra1]_F(KM)_PF1(AG_SHU)_PFA(SHU)_PB(AG_SHU)_PN(SL).pdfhaemoglobinopathieshigh performance liquid chromatographypregnancyroutine screening |
| spellingShingle | Moupali Ghosh Keya Basu Subhrajyoti Karmakar Ananya Biswas Moumita Sengupta Uttara Chatterjee Madhumita Mukhopadhyay Thalassaemia Carrier Detection during Antenatal Period: Single Centre Experience from Eastern India Journal of Clinical and Diagnostic Research haemoglobinopathies high performance liquid chromatography pregnancy routine screening |
| title | Thalassaemia Carrier Detection during Antenatal Period: Single Centre Experience from Eastern India |
| title_full | Thalassaemia Carrier Detection during Antenatal Period: Single Centre Experience from Eastern India |
| title_fullStr | Thalassaemia Carrier Detection during Antenatal Period: Single Centre Experience from Eastern India |
| title_full_unstemmed | Thalassaemia Carrier Detection during Antenatal Period: Single Centre Experience from Eastern India |
| title_short | Thalassaemia Carrier Detection during Antenatal Period: Single Centre Experience from Eastern India |
| title_sort | thalassaemia carrier detection during antenatal period single centre experience from eastern india |
| topic | haemoglobinopathies high performance liquid chromatography pregnancy routine screening |
| url | https://jcdr.net/articles/PDF/13374/42673_CE[Ra1]_F(KM)_PF1(AG_SHU)_PFA(SHU)_PB(AG_SHU)_PN(SL).pdf |
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