Abstract Issue

Volume 12 Issue 2 ( April- June) 2023

Original Articles

Hemoglobinopathies in adults and cord blood analysis for neonatal screening with special reference to Alpha Thalassemia - A pilot study from central India
Meghali Dhebane, Sanad Kumar, Vishal Agrawal, Gopal Bhagwat, Mansi Kala, Harshal Gupta

Objectives: Haemoglobinopathy is a genetic disorder characterized by the characterised by the generation of haemoglobin that is structurally flawed or by a problem with the globin chains that are produced from it. Thalassaemia syndromes are a combination of structural abnormality of haemoglobin with reduction in haemoglobin chains and are widely seen all over India mostly in tribal population. Haemoglobinopathies is thereby recognized as a major global health problem, as these conditions produce major morbidity and mortality problems in the community. Therefore, every country has introduced in its health program, the screening of population for these genetic conditions. Despite substantial research on haemoglobins at the molecular, biochemical, and haematological levels, diagnosing diseases involving them remains difficult. Early identification and characterisation of hemoglobinopathies are crucial for providing couples and families with the necessary counselling in order to prevent serious haematological repercussions. Therefore, a study was planned to screen the population in and around the region of Ujjain as there is a tribal belt found in that population. Material and Methods: In the present study, 100 cord blood & and 55 patients samples received between December 2010 to January 2011 were analysed for various haemoglobinopathies. All the samples were collected from patients admitted to R.D.Gardi Medical College – Ujjain. Under the direction of knowledgeable staff there, midwives collected umbilical cord blood samples. Blood was drawn into a vacutainer tube containing EDTA after clamping. Hb analysis was done by Drabkins method. Other haematological parameters were analysed by automated cell counter (ERMA INC, PME 210).Results: 100 cord blood samples were taken out of which 3 cases (3%) showed Barts hemoglobin. Concluding the presence of -thalassaemia. 55 patients samples subjected to electrophoresis showed 18 cases with hemoglobinopathy. -Thalassaemia major was observed in 9%, -thalassaemia minor in10%, sickle cell trait in 7.2%, and HbD in3.6% . One case of sickle cell thalassaemia (1.8%) was seen. The overall incidence of hemoglobinopathy was observed in 13.5% of patients sample. One case of sickle cell disorder showed high HbF. Conclusion: Our sample size was small and selective hence it does not reflect a true incidence. Larger studies are needed to assess a true incidence of hemoglobinopathies. Incidence of hemoglobinopathies from this region is sparse. It is suggested that hemoglobinopathy clinics should be started so that systematic evaluation of these cases can be instituted. This will also help in screening the parents and children. Such clinics can offer marriage counselling and prenatal diagnosis.

 
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