Psychological morbidity among children with transfusion dependent ß-thalassaemia and their parents in Sri Lanka.

BACKGROUND: Thalassaemia is a chronic disease which requires lifelong treatment in a majority. Despite recent advances in the medical care, minimal attempts are made to improve psychological health in these patients. In this study, we aim to describe the psychological morbidity in patients with transfusion dependent ß-thalassaemia and their mothers in Sri Lanka. METHODS: This case control study was conducted in the three largest thalassaemia centres of Sri Lanka. All patients with transfusion dependent ß-thalassaemia aged 4-18 years were recruited as cases whilst a randomly selected group of children without chronic diseases were recruited as controls. Psychological morbidity of children was assessed using the Strengths and Difficulties Questionnaire and depressive symptoms of mothers was assessed by the Centre for Epidemiological Studies Depression Scale. RESULTS: 288 transfusion dependent ß-thalassaemia patients and equal number of controls were recruited. Abnormal emotional, conduct, hyperactivity and peer relationship symptom scores were reported by 18%, 17%, 9% and 14% of patients with thalassaemia respectively. Prevalences of abnormal psychological symptom scores in all domains were significantly higher among patients compared to controls. Abnormal conduct symptoms were significantly more prevalent among patients with HbE ß-thalassaemia and those with suboptimal pretransfusion haemoglobin levels, lower transfusion volumes, hypothyroidism and undernutrition. Short stature was associated with abnormal emotional and hyperactivity scores. Depressive symptoms were significantly higher among mothers of patients with thalassaemia. Higher depressive symptom scores in mothers were significantly associated with abnormal emotional, conduct and peer relationship symptom scores in children. CONCLUSIONS: A higher proportion of patients with transfusion dependent ß-thalassaemia had abnormal psychological symptom scores. Abnormal conduct symptoms were more prevalent among patients with HbE ß-thalassaemia, those who were inadequately transfused and having hypothyroidism and undernutrition. Mothers of the children with transfusion dependent ß-thalassaemia had significantly higher depressive symptoms which were significantly associated with psychological symptoms among children.

Health related quality of life among children with transfusion dependent ß-thalassaemia major and haemoglobin E ß-thalassaemia in Sri Lanka: a case control study.

BACKGROUND: Thalassaemia is a chronic disease without an effective cure in a majority. The clinical management has improved considerably during recent years; however, minimal attempts are made to up lift the quality of life among patients, especially in developing countries. Here we aim to describe and compare and to determine factors associated with health related quality of life among patients with transfusion dependent ß-thalassaemia major and haemoglobin E ß-thalassemia in Sri Lanka. METHODS: A case control study was conducted in the three largest thalassaemia centres of Sri Lanka. All patients with transfusion dependent ß-thalassaemia (ß-thalassaemia major and haemoglobin E ß-thalassaemia) aged 5-18 years were recruited as cases whilst a randomly selected group of children without chronic diseases were recruited as controls. Socio-demographic and clinical data were collected using an interviewer-administered questionnaire and health related quality of life was measured using the validated Paediatric Quality of Life Inventory Version 4.0. RESULTS: Two hundred and seventy one patients with transfusion dependent ß-thalassaemia (male-49.1%; mean age- 10.9 ± 3.6 years) and 254 controls (male-47.2%; mean age- 10.4 ± 3.5 years) were recruited. Mean health-related quality of life scores were significantly lower in patients compared to controls (72.9 vs. 91.5, p < 0.001). Of the patients, 224 (84%) had ß-thalassaemia major and 43 (16%) had haemoglobin E ß-thalassaemia. Quality of life scores in psychological health (p < 0.05), emotional functioning (p < 0.05) and social functioning (p < 0.05) were significantly lower in patients with haemoglobin E ß-thalassaemia compared to ß-thalassaemia major. Splenectomy (p < 0.05), short stature (p < 0.05), under nutrition (p < 0.05) and longer hospital stays (p < 0.05) were significantly associated with lower quality of life scores. CONCLUSIONS: Despite improvements in management, the quality of life among patients with ß-thalassaemia still remains low. This is more pronounced in the subset of patients with haemoglobin E ß-thalassaemia. Splenectomy, short stature, undernutrition and longer hospital stays were significantly associated with poor quality of life. It is timely, even in developing countries, to direct emphasis and to take appropriate steps to improve standards of living and quality of life of patients with ß-thalassaemia.

Blood transfusion therapy for ß-thalassemia major and hemoglobin E ß-thalassemia: Adequacy, trends, and determinants in Sri Lanka.

BACKGROUND: Regular blood transfusion therapy still remains the cornerstone in the management of ß-thalassemia. Although recommendations are clear for patients with ß-thalassemia major, uniform transfusion guidelines are lacking for patients with hemoglobin E ß-thalassemia. In this study, we aim to describe the adequacy, trends, and determinants of blood transfusion therapy in a large cohort of pediatric patients with ß-thalassemia major and hemoglobin E ß-thalassemia. METHODS/PROCEDURE: This cross-sectional study was performed among all regularly transfused patents with ß-thalassemia aged 2 to 18 years attending three large thalassemia centers in Sri Lanka. Data were collected using an interviewer-administered questionnaire, perusal of clinical records, and physical examination of patients by trained doctors. RESULTS: A total of 328 patients (male 47%) were recruited; 83% had ß-thalassemia major, whereas 16% had hemoglobin E ß-thalassemia. Sixty-one percent of patients had low pretransfusion hemoglobin levels (< 9.0 g/dL) despite receiving high transfusion volumes (> 200 mL/kg/year) by a majority (56%). Median pretransfusion hemoglobin was significantly lower in patients with hemoglobin E ß-thalassemia compared with ß-thalassemia major (P < 0.001); however, there was no difference in requirement for high transfusion volumes over 200 mL/kg/year in both groups (P = 0.14). Hepatomegaly and splenomegaly were more common in hemoglobin E ß-thalassemia and were associated with lower pretransfusion hemoglobin. Transfusion requirements were higher among patients with hepatitis C and in those who are underweight. CONCLUSIONS: Over 60% of regularly transfused patients with ß-thalassemia have low pretransfusion hemoglobin levels despite receiving large transfusion volumes. Patients with hemoglobin E ß-thalassemia are undertransfused and specific recommendations should be developed to guide transfusions in these patients.

Body iron status of children and adolescents with transfusion dependent ß-thalassaemia: trends of serum ferritin and associations of optimal body iron control.

OBJECTIVE: This cross sectional study aims to describe the body iron status, trends of serum ferritin and associations of optimal body iron control in patients aged below 16 years with transfusion dependent ß-thalassaemia attending Paediatric and Adolescent Thalassaemia Centres of the Colombo North Teaching Hospital of Sri Lanka. RESULTS: Out of 54 children, 51% were males and a majority were aged 11-16 years; 83% had ß-thalassaemia major while 13% had HbE ß-thalassaemia. Mean serum ferritin was 1778(± 1458) µg/l and 29% had optimal serum ferritin (below 1000 µg/l). Trend of mean serum ferritin over time showed gradual decline between 2011 and 2017 and longitudinal trend of individual patients at yearly intervals showed gradual rise until 5 years of age and plateauing thereafter. All except two patients were receiving iron chelator medication of which the most commonly used was oral deferasirox (92%). The most common iron-related complications were short stature (24.1%) and pubertal delay (42.8% of > 14 years). None of the patients had hypothyroidism, hypoparathyroidism or diabetes. Optimal serum ferritin levels were significantly associated with the diagnosis of thalassaemia at a later age (23.6 vs 9.0 months) and higher family income (OR-4.81;95%CI 1.17-19.67) however was not associated with the age of the patient or duration of transfusion.