Thalassemia Major in Adults: Short Stature, Hyperpigmentation, Inadequate Chelation, and Transfusion-Transmitted Infections are Key Features.
키워드
요약
BACKGROUND
Effective transfusion and chelation have prolonged the quality and longevity of life in thalassemics, who now survive into adulthood. Hence, adult physicians need to be aware of their clinical and laboratory profile and the problems faced by them.
OBJECTIVE
The present study was aimed to evaluate the clinical profile of adult thalassemics.
METHODS
Adult (>18 years) thalassemia major patients (n=19) were evaluated clinically and fasting pretransfusion blood samples were analyzed for complete blood counts, kidney and liver function tests, plasma glucose, serum ferritin, and thyroid hormone levels.
RESULTS
Average age was 21.65±2.47 years (range 19-28 years), 42.1% had Body mass index (BMI) <18.5. Splenectomy had been performed in 47.4% before reaching adulthood, males significantly outnumbered females (72% vs. 12.5%). Hemoglobin levels <8 g/dl were observed in 31.6% and none had serum ferritin levels in the recommended range suggesting inadequacy of both transfusion and chelation. Indirect hyperbilirubinemia was observed in 21.1% patients although kidney functions, serum protein, and albumin were normal in all patients. Electrocardiographic abnormalities, diabetes mellitus or hypothyroidism were absent. Five patients (26.3%) had contracted transfusion-transmitted viral infections - 21.1% and 5.3% respectively had antibodies to hepatitis C virus and HIV, while 5.3% were positive for Australia antigen. All patients were receiving chelation therapy - deferiprone alone (78.9%) or along with desferrioxamine (21.1%). Average dose of deferiprone being used was 95±8 mg/kg.
CONCLUSIONS
Adult thalassemia major patients present with a distinct clinical profile having low BMI, generalized hyperpigmentation, most are splenectomized, have low hemoglobin, inadequate chelation and harbor transfusion-transmitted infections. Adult physician needs to be aware of this profile.
