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Intractable Rare Dis Res. 2018 Nov;7(4):258-263. doi: 10.5582/irdr.2018.01093.

Spectrum and hematological profile of hereditary anemia in North Indians: SGPGI experience.

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1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS), Lucknow, India.

Abstract

Thalassemia and other hemoglobinopathies together with red cell enzymopathies are a common cause of anemia, which can be prevented by population screening and genetic counseling. This study was designed to screen the anemic patients for thalassemia, structural hemoglobin variants and red cell enzymopathies. A total of 17047 cases were evaluated from 2009 to 2018 for thalassemia, hemoglobin variants, glucose 6 phosphate dehydrogenase deficiency, pyruvate kinase deficiency and hereditary spherocytosis. Patients' records were entered in a Microsoft excel sheet and a spectrum of disorders was evaluated. Year wise spectrum was also analyzed to see the difference in incidence at different time periods. Incidence of beta thalassemia trait and thalassemia major was found in 11.0% and 3.4% respectively, whereas other hemoglobinopathies were observed in 3.2% of the cases. G6PD deficient cases were 0.2 % and 0.4% had hereditary spherocytosis. No significant difference was observed in incidence of thalassemia and other hemoglobinopathies at different time points. This study provided a health burden and detailed spectrum and prevalence of hemoglobinopathies in North Indians high risk population which contribute toward the development of prevention strategies for better management of hemoglobinopathies. In view of high incidence of thalassemia a routine hematological screening at a primary health center may be introduced as a prospective premarital screening under a thalassemia control program. Moreover rapid and easy quantification of hemoglobin variants (Hb variants) make Cation exchange - High Performance Liquid Chromatography (CE-HPLC) a suitable diagnostic test for the routine investigation of genetic causes of anemia.

KEYWORDS:

G6PD deficiency; HPLC; Hb variants; Premarital Screening; Thalassemia

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