Thalassaemia Carrier Detection during Antenatal Period: Single Centre Experience from Eastern India
Dr. Moumita Sengupta,
Flat No. A11, Snehaneer Apt, 1185 Chakgaria, 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 ÃŸ 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 levels were found to be higher among the carrier stages 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.