Fondu P
Bull Mem Acad R Med Belg. 1995;150(10-11):367-75; discussion 376-8.
Our purpose is to illustrate our contributions to the study of the haemoglobinopathies observed in Belgium. We described a new deletion leading to major thalassaemia and have established that the erythropoietin production is adequate in this disease. We were particularly interested in some manifestations of iron overload (polyendocrinopathy, roles of the decreased phagocytosis and of the desferrioxamine therapy in the predisposition to infections, protective role of desferrioxamine in the protection against the progression of HIV-1 infection). The prevention of thalassaemia major has deserved our particular attention. As concerns sickle cell anemia, we have underlined some particular aspects of the clinical expression of the disease. The use of new therapeutic approaches (bone marrow transplantation, hydroxyurea) has also been outlined.
我们的目的是阐述我们对比利时所观察到的血红蛋白病研究的贡献。我们描述了一种导致重型地中海贫血的新缺失，并证实了这种疾病中促红细胞生成素的产生是充足的。我们尤其关注铁过载的一些表现（多内分泌病、吞噬作用降低和去铁胺治疗在感染易感性中的作用、去铁胺在预防HIV-1感染进展中的保护作用）。重型地中海贫血的预防值得我们特别关注。关于镰状细胞贫血，我们强调了该疾病临床表现的一些特殊方面。还概述了新治疗方法（骨髓移植、羟基脲）的使用情况。
