PDF(Pubmed)
Abstract：
Hemoglobinopathies are monogenic disorders affecting hemoglobin synthesis. Thalassemia and sickle cell disease (SCD) are considered the two major hemoglobinopathies. Thalassemia is a genetic disorder and one of the major hemoglobinopathies determined by an impairment of globin chain production, which causes an alteration of erythropoiesis, an improvement in hemolysis, and an alteration of iron homoeostasis. In SCD, the mutations are on the β-globin chain of hemoglobin which results in a substitution of glutamic acid by valine with consequent formation of Hemoglobin S (HbS). Several factors are involved in bone metabolism alteration in patients with hemoglobinopathies, among them hormonal deficiency, bone marrow hyperplasia, iron overload, inflammation, and increased bone turnover. Bone metabolism is the result of balance maintenance between bone deposition and bone resorption, by osteoblasts (OBs) and osteoclasts (OCs). An impairment of this balance is responsible for the onset of bone diseases, such as osteoporosis (OP). Therefore, here we will discuss the alteration of bone metabolism in patients with hemoglobinopathies and the possible therapeutic strategies to contain and/or counteract bone health impairment in these patients, taking into consideration not only the pharmacological treatments already used in the clinical armamentarium, but also the new possible therapeutic strategies.
摘要：
血红蛋白病是影响血红蛋白合成的单基因疾病。地中海贫血和镰状细胞病（SCD）被认为是两种主要的血红蛋白病。地中海贫血是一种遗传性疾病，是由珠蛋白链产生受损决定的主要血红蛋白病之一。导致红细胞生成的改变，溶血的改善，和铁稳态的改变。在SCD中，突变在血红蛋白的β-珠蛋白链上,其导致谷氨酸被缬氨酸取代,随后形成血红蛋白S(HbS)。血红蛋白病患者骨代谢改变涉及几个因素，其中荷尔蒙缺乏，骨髓增生,铁过载，炎症,和增加骨转换。骨代谢是骨沉积和骨吸收之间平衡维持的结果。成骨细胞（OB）和破骨细胞（OC）。这种平衡的损害是骨骼疾病发作的原因，如骨质疏松症（OP）。因此,在这里，我们将讨论血红蛋白病患者骨代谢的改变，以及可能的治疗策略，以遏制和/或抵消这些患者的骨健康损害，不仅考虑到临床医疗设备中已经使用的药物治疗，还有新的可能的治疗策略。
