Introduction: Beta-thalassaemia is caused by point mutations leading to decreased production of beta-globin, which results in defective red blood cells and ineffective erythropoiesis. Complications are microcytic hypochromic anaemia, extramedullary haematopoiesis and increased intestinal iron absorption due to compensation mechanisms. The resulting iron overload can be aggravated by recurrent blood transfusions necessary for treatment of anaemia and may cause several endocrine complications such as pituitary dysfunction, diabetes, hypoparathyroidism and hypothyroidism. Beta-thalassaemia intermedia/major may only be cured by haematopoietic allogenic stem cell transplantation. In developed countries and with optimal treatment possibilities, patients with severe complications are rarely seen. But unfortunately this is not reality for all children.
Methods: Three refugees from the Middle East came to our institution for treatment late. They all suffered from beta-thalassaemia and had severe complications due to inadequate therapy in their past.
Results: Patient 1, a 14 year old girl was wheel chair bound at admission because of long bone fractures, and was in a very bad health situation with severe cardiac and liver dysfunction and diabetes. Furthermore she suffered from delay of growth and puberty, severe hypothyroidism, vitamin D deficiency and hypoparathyroidism. Patient 2 (sister of patient 1) was 17 year old and presented with delay of growth and puberty and vitamin D deficiency. Patient 3, a 15 year old boy suffered from diabetes, delay of growth and puberty and vitamin D deficiency. Two years of optimal treatment improved his health status tremendously. Thus complications like delay of growth and puberty and vitamin D deficiency were found in all three, diabetes in two, and hypothyroidism and hypoparathyroidism in only one. We started treatment for all endocrine complications including vitamin D and calcium supplementation, thyroid hormone replacement and functional insulin treatment in patient 1, vitamin D supplementation in patient 2, and functional insulin treatment, vitamin D supplementation, growth hormone treatment and puberty induction in patient 3. The latter was postponed in patients 1 und 2. Treatment of the underlying disease included blood transfusions aiming at suppression of ineffective erythropoiesis as well as chelation therapy to reduce iron overload.
Conclusion: There are special medical challenges in suboptimal treated thalassaemia patients, which include severe endocrine complications. These are seen in refugee children in our units as a result of war and lack of medical care. An interdisciplinary and individual approach is important to improve the health situation of these patients, in whom some permanent damage is unfortunately irreversible.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology