Di Paola Alessandra, Marrapodi Maria Maddalena, Di Martino Martina, Giliberti Giulia, Di Feo Giuseppe, Rana Deeksha, Ahmed Shakeel, Argenziano Maura, Rossi Francesca, Roberti Domenico
Department of Woman, Child and General and Specialist Surgery, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Department of Experimental Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Int J Mol Sci. 2024 Mar 1;25(5):2902. doi: 10.3390/ijms25052902.
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.
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，是主要的血红蛋白病之一，由珠蛋白链生成受损所致，可导致红细胞生成改变、溶血加剧及铁稳态改变。在SCD中，突变发生在血红蛋白的β-珠蛋白链上，导致谷氨酸被缬氨酸取代，从而形成血红蛋白S（HbS）。血红蛋白病患者的骨代谢改变涉及多种因素，包括激素缺乏、骨髓增生、铁过载、炎症及骨转换增加。骨代谢是成骨细胞（OBs）和破骨细胞（OCs）维持骨沉积与骨吸收之间平衡的结果。这种平衡受损会导致骨质疏松症（OP）等骨骼疾病的发生。因此，我们将讨论血红蛋白病患者的骨代谢改变以及控制和/或对抗这些患者骨健康损害的可能治疗策略，不仅要考虑临床现有药物治疗方法，还要考虑新的可能治疗策略。
