Reappraisal of symptoms and signs of uncomplicated β thalassemia trait

Abstract

INTRODUCTION: Although considered a mild disorder, J3 thalassemia trait has been reportedly associated with symptoms of anaemia, while in other series hepatosplenomegaly has been reported as associated with this diagnosis. No controlled study has examined the symptoms and signs of individuals with {5 thalassemia trait and compared these with age- and sex-matched normal individuals. Materials and METHODS: We administered a questionnaire to 397 parents of children with J3 thalassemia major attending the National Thalassemia Centre in Kurunagala, Sri Lanka, and to 87 normal volunteers. All individuals underwent physical examination by the same investigator, as well as testing by automated cell counter, and HPLC. RESULTS: The mean age of the parents (33 years) and controls (29.5 years) was not significantly different. In parents with thalassemia trait, 20% of males and 42% of females complained of reduced exercise tolerance compared to 12.5% of males and 38% of females in the controls. The questionnaire revealed that 41% of parents, and 36% of controls, complained of recurrent headache; 18% of parents, and 15% of controls, complained of lethargy. Mean quality-of-life score, recorded formally by a linear analog scale, from 0 to 10 was 7.1 in parents and 7.2 in controls. CONCLUSIONS: These findings suggest that, by contrast to many reports in the older literature, in uncomplicated p thalassemia trait there appears to be no symptoms or signs greater than those observed in a normal control population.