Clinicoinvestigational and demographic profile of children with thalassemia major.

There are an estimated 200 million carriers of the β-thalassemia gene worldwide, 20 million being in India. The mean prevalence in India is 3.3 %. Objective To evaluate the clinico-investigational profile and the demographic characteristics of patients with thalassemia major (TM). Methods This was a retrospective analysis of the clinico-demographic profile at presentation of patients of TM diagnosed in the Paediatric Hematology Clinic of our hospital. Results The clinical profile of 964 patients of TM was analyzed. The mean age at presentation of untransfused children was 13.2 ± 9.7 months. Nearly 2/3(rd) children presented before 1 year of age. Almost 40 % had symptoms for 3 months prior to presentation. The manifestations at presentation included pallor and failure to thrive. About 40 % presented with severe anemia, with a hemoglobin of <5.0 gm/dl. A large number received blood transfusions prior to establishment of the diagnosis. Half of the families had ancestors who hailed originally from Pakistan. Approximately 50 % belonged to the Khatri/Arora castes. The parental literacy rate was about 90 %. Conclusions Thalassemia needs greater public awareness and prevention strategies in our country. Some communities are at high risk as compared to others. Education programs and compulsory antenatal screening appear to be the order of the day.