Diversity of Clinical Features of Patients with Thalassemia Intermedia

Thalassemia is the most common single gene disorder in the world found at high frequencies in many populations worldwide. Beta thalassemia presents with extremely diverse phenotypes within the homozygous and compound heterozygote states. The term “β-thalassemia intermedia” (TI) was first suggested to describe patients who had clinical manifestations that are not as mild as β-thalassemia minor and not as severe as β-thalassemia major” (TM). Patients with TI usually present to medical attention in later childhood or even adulthood. Diagnosis of thalassemia intermedia relies on clinical presentation more than the molecular characterization. In this study clinical features of the patients having thalassemia intermedia were observed. The study was carried out on 100 known thalassemic intermedia patients. All of the patients were diagnosed clinically and confirmed with molecular analysis. The clinical features observed age at the time of examination, age at the start of transfusion, interval between transfusion, facial changes, spleen and liver. Presence of jaundice in the patients was also noted. The ages of the patients were between 2 to 34 years. The age at commencement of transfusion was between 1 year to 32 years. 21 patients had severe facial changes, 48 with mild facial changes while 31 had no facial changes. Only 6 patients had enlarged spleen. Six of the patients had their spleen removed. 5 patients showed up with significant jaundice and 38 patients had enlarged liver. Patients presented with broad spectrum of clinical features. Majority of the patient had mild changes in liver and spleen, having mild facial changes and less sever jaundice. While others represented with sever hemolysis , enlarged spleen and liver accompanied with significant facial changes and yellow coloration of skin representing jaundice. Thus it is difficult a draw a definite line between thalassemia intermedia and thalassemia major. A careful observation of physical presentation and molecular analysis support is required to claim the diagnosis of thalassemia intermedia.