INTRODUCTION AND PURPOSE: β-thalassaemia major (β-TM) is characterized by chronic anemia due to a genetic deficiency in hemoglobin production. The clinical findings of the disease include hepatosplenomegaly, enlargement and thinning of the bones with flattening of the nasal root, protrusion of the forehead and other facial bones resulting abnormal facial appearance. In this study, we aimed to examine sleep apnea and abnormal sleep quality in patients with β-TM that might occur as a result of structural facial defect.

METHODS AND MATERIALS: Two separate sleep-related questionnaires, pediatric sleep (PSQ) and pediatric sleep habits (PSHQ), were used to patients with β-TM who were followed in the pediatric hematology section of our hospital. Same questionnaires were applied to children in pediatric outpatient clinic who had no history of any chronic illness as a control group. The families included to the study were asked to fill questionnaires under the supervision of a clinical nurse.

FINDINGS: A total of 50 children with β-TM and 47 children as a control group were included in the study. No significant difference was found among the characteristics (age, gender, family education level) of both groups. Additionally, there was also no statistical difference between the total sleep duration of patients with β-TM and the control group. Similarly, no statistical difference was observed among the groups in the pediatric sleep apnea questionnaire. However, there were statistically significant higher scores in patients with β-TM compared to control group in the pediatric sleep habits questionnaire. In addition, the findings in the habit questionnaire scores did not change when the groups were compared by segregated age (i.e. 3-10 years old and 10-17 years old).

DISCUSSION: The current study concluded that sleep apnea risk was not increased in patients with β-TM, but sleep quality was poor. No definite information exists about the cause of sleep-related disorders in patients with β-TM. Probably, the atypical facial structure resulting from nasopharyngeal extramedullary increased hematopoietic activity predisposes to sleep-related problems in patients with β-TM. It was also shown that the uvula-glossopharyngeal dimension was shorter in patients with thalassemia than in patients with no thalassemia. There is limited information in the literature with regard to sleep-related problems in children with β-TM. In a study consisted 120 patients with severe β-TM, the prevalence of obstructive sleep apnea was reported 8.3% and habitual snoring was 15.8%. Furthermore, an increase in periodic limb movement during sleep secondary to sleep fragmentation disorder had also reported in the same study.