A Clinico-epidemiological Study of Thalassemia Cases in India.

Introduction: Thalassemia is the most common single-gene disorder in India. Hence, care of these patients becomes a priority issue. Objectives: This study was done to assess the clinical presentations and management practices in thalassemia. Materials and Methods: Case sheets of patients with thalassemia admitted over the past 10 years from 2005 to 2014 were examined and recorded in a validated pro forma. Results: Of the total 183 cases, 179 (97.8%) were of beta thalassemia major, 3 (1.6%) of beta thalassemia intermediate, and 1 (0.6%) of beta thalassemia minor category. The median age at diagnosis was 1 year. Hardly, one-fourth of the cases were diagnosed in the first 6 months. Majority of cases were under-fives 58 (31.7%) and were males 116 (63.4%). Fever was the most common presenting symptom 34 (18.6%). Pallor 179 (97.8%) followed by hepatomegaly 172 (94%) were the most common signs. Bone deformities were reported in 13 (7.1%) cases. Among the under-fives, more than one-third were underweight and more than half were stunted. The mean posttransfusion value of hemoglobin after 1 year of transfusion among cases was 10 ± 1.6 g percent. Iron chelation therapy using desferrioxamine was given to 51 (27.9%) cases. The mean age of starting this therapy was 11.1 ± 8.2 years. Splenectomy was done in 4 cases, all of them being cases of beta thalassemia major. The mean age while performing splenectomy was 10.7 ± 4.8 years. Lenticular opacity was present among greater proportion of thalassemia cases on treatment with desferrioxamine (P = 0.022). Conclusion: Several complications were identified among thalassemia cases. A multidisciplinary care approach is therefore required for solving these problems. [ABSTRACT FROM AUTHOR]