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HPLC profile of sickle cell disease in central India

Journal: International Archives of Integrated Medicine (IAIM) (Vol.5, No. 1)

Publication Date:

Authors : ;

Page : 36-41

Keywords : HPLC; Hemoglobinopathies; Hemoglobin variants; Sickle cell disease.;

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Abstract

Background: Various hemoglobinopathies are one of the major public health problems of India. Aim: To study spectrum of sickle cell disease in Central India based on HPLC, to identify abnormal hemoglobin requiring counselling and PND and to monitor treatment modalities. Material and methods: A retrospective study of total 5819 patients was done during January 2003 - December 2012, at RHDMC, IGGMC, Nagpur. Inclusion criteria were patients presenting with anemia, joint pain and jaundice, relatives on patients diagnosed with sickle cell disease and all antenatal cases. Tests performed in every case were hematological indices, Solubility test, Alkaline hemoglobin electrophoresis at PH- 8.9. All patients showing abnormal pattern on electrophoresis were subjected to HPLC on biorad variant. Results: Total 2590 cases were identified with various hemoglobinopathies. Sickle cell trait was seen in 1172 cases (20.15%), homozygous sickle cell anemia was seen in 969 cases (16.65%), Hb S - β Thalassemia double heterozygous state in 222 cases (3.82%), HbS - Hereditary persistence of fetal haemoglobin in 82 cases (1.42%), Hb E trait in 59 cases (1.01%0, Hb D trait in 52 cases (0.9%), Hb J in 9 cases (0.17%), Homozygous Hb E and Homozygous Hb D in 7 (0.12%0 cases each, Sickle cell - Hb D double heterozygous state in 6 cases (0.1%), Sickle cell - Hb E double heterozygous state in 4 cases (0.07%) and Hb Q in 1 case (0.02%). Conclusion: Various hemoglobinopathies have different clinical profile, thus their identification is important. Antenatal screening for hemoglobinopathies is important for preventing development of severe disease in newborn, which can be achieved by counselling and prenatal diagnosis in select cases. Region wise documentation of prevalence of various hemoglobinopathies is essential for epidemiological studies. HPLC is best tool for screening of hemoglobinopathies and Thalassemia. However, DNA studies in select cases are essential for confirmation.

Last modified: 2018-01-24 12:43:22