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Spectrum of hemoglobinopathies by high performance liquid chromatography with special reference to role of HbA2 levels at tertiary care centre

Santosh B. Bhokare, Pragati P. Phulgirkar, Anil R. Joshi, Rajan S. Bindu.

Abstract
Background: The inherited disorders of blood include hemoglobinopathies as one of the major public health problems in India. This study indicates type of hemoglobinopathies in a tertiary care hospital over period of 2 years and 3 months.
Methods: total of 500 suspected cases of haemolytic anaemia were studied during the period of July 2013 to Oct 2015 based on Complete Blood Count, Red cell indices and Peripheral blood smear examination. Sickling test, test for Hb quantitation by using cation exchange HPLC was done in all cases.
Results: Out of all 500 cases of anaemia, 313 cases (62.6%) were confirmed to nonhemolytic anaemia whereas 187 cases (37.4%) had shown abnormal haemoglobin pattern on electrophoresis. Out of these 187 cases, 87 (46.52%) were Males and 100 (53.48%) were females. Most common haemoglobinopathy observed was Sickle cell trait 94 (18.8%) followed by beta-Thalassaemia Trait 33 (17.64%), sickle cell-thalassemia trait 27 (14.43%), beta thalassemia major 18 (9.62%) and 1 case of HbE thalassemia trait. The onset of disease was most prominent in Neonatal to paediatric age group (0-10 years) followed by reproductive age group (21-30 years). Few cases in old age were detected.
Conclusions: Study provides data on the spectrum & pattern of Hemoglobinopathies in a tertiary care centre and importance of HbA2 levels in diagnosis of hemoglobinopathies and cases falling in borderline HbA2 levels. Screening of all anaemic patients should be done for Hemoglobinopathies and proper Genetic counselling must be given to all cases to prevent incidence of cases in future generation.

Key words: Hemoglobinopathies, HPLC, Thalassaemia


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