Title: Clinico- haematological Profile of Sickle Cell Disease and Sickle Cell Beta-Thalassaemia in the State of Odisha
Authors: Dharma Niranjan Mishra, Manoj Kumar Naik, Rabindra Kumar Jen
DOI: https://dx.doi.org/10.18535/jmscr/v5i6.44
Abstract
Background: Hemoglobinopathy is a group of inherited disorders characterized by structural variations of the hemoglobin molecule. Sickle cell disease, beta thalassemia and sickle beta thalassemia constitute the major genetic blood disorders in Odisha. The aim of this study was to determine the clinico-haematological patterns of patients with sickle cell haemoglobinopathies.
Methods: Blood samples are collected from 88 subjects diagnosed as sickle cell disease and sickle β+ thalassemia after taking informed consent as well as appropriate ethical clearance. Screening is done by sickling test and capillary electrophoresis.
Results: Out of 88 patients 43 patients (48.9%) are Sickle Cell Disease (28 males and 15 females) and 45 patients (51.1%) are S/ß Thalassaemia (37 males and 08 females) included in the present comparative study. Results are statistically analysed and tested using student’s t-test for significance. Since there is no statistically significant sex differences observed for different haematological indices in the studied diagnostic categories, their mean values are pooled together for comparison purposes. Statistically significant higher mean values were observed in sickle beta thalassemia patients i.e. HbA mean 3.69±2.94 P value <0.0027, HbA2 mean 4.12 P value <0.017 than in the sickle cell Disease. In Sickle Cell Disease the mean height is 145.69±31.08 P value <0.001, serum ferritin level 737.8±772.6 P value <0.0003 and HbS levels72.8±8.03 P value <0.01, which is significantly higher than Sickle Cell Beta Thalassemia. Hydroxyurea was administered orally at doses between 10 and 20 mg/kg per day. There are overall increases in HbF in most of the cases with reductions in the frequency of recurrent blood transfusion, vasoocclusive crisis and avascular necrosis.
Conclusion: Molecular diagnosis of Hb D, HbE or Hb S gene is required along with characterization of β-thalassemia mutations in this region.
Abbreviations: HbS –Sickle cell Haemoglobin, HbF :foetal Haemoglobin and S/ßThalassaemia: Sickle beta Thalassemia
Keywords: Hemoglobinopathy, sickle cell disease, S/ßThalassaemia,
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