Study of Clinico-Hematological Profile of Thalassemia at Tertiary Care Centre

Background Thalassemia is one of the major hemoglobinopathies among the population all around the world. Beta thalassemia major results in severe anemia which needs regular repeated blood transfusion, which leads to iron over load in the body. Iron overload also damages the liver, kidney and other organs secondary to iron deposition. The thalassemia minor syndromes are characterized clinically by mild anemia with persistent microcytosis. Thalassemia intermedia is typified by a moderate, variably compensated hemolytic anemia that may present with clinical symptoms during a period of physiologic stress such as infection, pregnancy, or surgery. So to know the severity of the patient, we retrospectively& prospectively evaluated clinical and hematological parameters of cases of thalassemia. Methods Total 200 subjects were studied. We examined all patients who are clinically and Hematological suspicious of thalassemia and patients diagnosed to have thalassemia based on High Performance Liquid Chromatography (HPLC) over a period of 2 years 3 months. The patients groups were evaluated according to the clinicohematological presentation and HPLC study. Results Pallor was the most common clinical presentation followed by splenomegaly among thalassemia major group. Highest hemoglobin, RBC, MCH, MCHC was found in Sickle Beta Thalassemia i. e. Group C and lowest was found in Group A. Highest MCV (80.83 fl) was found in Beta Thalassemia trait i. e. Group B and lowest MCV (72.01 fl) was found in Beta Thalassemia major i. e. Group A. Average levels of Hb F % in thalassemia major group was 94.44 3.13 %. Mean value of serum ferritin in thalassemia major group were found to be significantly increased (4103.21 2786.9 ng/ml). Conclusion High Performance Liquid Chromatography (HPLC) was found to be less labour intensive, rapid and more reliable for quantification of hemoglobin variants. It helps in screening of large population for hemoglobin disorder like thalassemia, sickle cell carrier in premarital and family screening. Most of the clinical findings were dominantly seen with Beta Thalassemia Major. Majority of the cases presented clinically with pallor 80 (53.33 %). Other clinical presentation includes- Hepatomegaly 38 (25.33 %), Fever 37 (24.67 %), Jaundice 33 (22 %), Joint Pain 24 (16 %) and pain abdomen 1 (0.67 %). Serum ferritin levels were found to be significantly increased (4103.21 2786.9 ng/ml) among thalassemia major whereas it is normal in other groups. Beta thalassemia major follows a more severe course and present at younger age compared to other subtypes and is a major public health problem in this area of the country. High cost of treatment, repeated blood transfusion and chelation therapy and economic burden on family resources, all suggest that prevention is better than cure.