Abstract
Introduction Hemoglobinopathies and thalassemia are hereditary disorders of hemoglobin (Hb) affecting mankind at prevalent regional level. Automated cation exchange high performance liquid chromatography is being increasingly used as the initial diagnostic method for identifying normal and abnormal hemoglobin variants. Methodology Total 2035 sample received and studied. All samples run on cation exchange high performance liquid chromatography machine by BIO-RAD. Results: Total 386(18.96%) cases had abnormal hemoglobin fractions. Beta thalassemia major cases were 17(0.83%). Beta thalassemia intermedia cases were 4(0.19%). Sickle cell trait (heterozygous Hb S) cases were 96(4.71%). Double heterozygous for sickle cell-beta thalassemia cases were 14(0.68%). There were 06 cases (0.29%) of Hb D heterozygous. There were one each case of Hb E heterozygous and Hb E-beta thalassemia (0.04% each). Hb F was raised in 7 adult cases (0.34%). Conclusion: To conclude, cation exchange high performance liquid chromatography is less time consuming, cost effective, labor saving, reproducible, accurate, sensitive and specific method to detect hemoglobinopathies and thalassemia. Most of the abnormal cases are diagnosed with this method, with few inconclusive cases require further genetic and molecular workup. DOI: 10.21276/APALM.1393
Highlights
Hemoglobinopathies and thalassemia are hereditary disorders of hemoglobin (Hb) affecting mankind at prevalent regional level
Most common defect was increased Hb A2. 3.9% was taken as a cutoff for beta thalassemia trait diagnosis (BTT)
Total 216 cases were diagnosed with beta thalassemia trait
Summary
Hemoglobinopathies and thalassemia are hereditary disorders of hemoglobin (Hb) affecting mankind at prevalent regional level. Examples of quantitative defects are alpha and beta thalassemia. In India 10,000 children every year are born suffering from thalassemia major, amounting to approximately 10% of total world numbers [4]. In India individuals with beta thalassemia are 3.5-15% in total population [5]. In India still the conventional methods are used in most of the places for diagnosing these defects. These conventional methods are family history, clinical features, hemoglobin level, red blood cell indices, red cell count, peripheral blood smear study, Hb A2 quantification, Hb F quantification, cellulose acetate electrophoresis at alkaline pH for hemoglobin and sickling test.
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