Deparment of Hematology, Faculty of Medicine, Mersin University, Mersin, Turkey.
Department of Internal Medicine, Faculty of Medicine, Mersin University, Mersin, Turkey.
Hemoglobin. 2020 Sep;44(5):334-337. doi: 10.1080/03630269.2020.1811116. Epub 2020 Sep 2.
There is not enough data about osteoporosis and the role of receptor activator of nuclear factor κ-Β ligand (RANKL)/serum osteoprotegerin (OPG) system in patients with double heterozygosity for sickle cell disease and β-thalassemia [Hb S (: c.20A>T)/β-thal] and β-thal trait. Aim of the study was to investigate bone mineral densities (BMD) and the role of RANKL/OPG system in these cases. We studied 58 adults with Hb S/β-thal, 52 adults with β-thal trait, 34 healthy subjects as a control group. The BMD was determined by dual-energy X-ray absorptiometry (DEXA). Biochemical markers of bone metabolism (serum calcium, phosphorus, alkaline phosphatase, osteocalcin) parameters that affect bone metabolism (serum parathyroid hormone, thyroid-stimulating hormone, 25-hydroxyvitamin D, OPG, soluble RANKL [sRANKL]) were studied. Femoral neck Z-scores of 93.2% for β-thal trait, 83.0% for Hb S/β-thal patients were within the expected range. Lumbar spine Z-scores of 89.1% for β-thal, 90.2% for Hb S/β-thal patients were above -2.0 SD. Z-scores of the control group were within the expected range. Median serum sRANKL level was 2.80, 4.52, 5.79 pmol/L in Hb S/β-thal, β-thal trait, control groups, respectively ( = 0.010). Median serum OPG level was 1.07, 0.86, 0.86 pmol/L in Hb S/β-thal, β-thal trait, control groups, respectively ( < 0.001). β-Thalassemia trait alone is not a risk factor for osteopenia/osteoporosis and osteoporosis does not develop in premenopausal women and men younger than 50 years with Hb S/β-thal. However, as we determined lower levels of osteocalcin, compensatory decrease of sRANKL with compensatory increase of OPG, more severe osteoporosis may develop in advanced ages in these patient populations.
关于骨质疏松症以及核因子 κB 受体激活剂配体（RANKL）/血清护骨素（OPG）系统在镰状细胞病和β-地中海贫血双重杂合子[Hb S（：c.20A>T）/β-地中海贫血]和β-地中海贫血患者中的作用，目前数据不足。本研究旨在探讨骨矿物质密度（BMD）和 RANKL/OPG 系统在这些病例中的作用。我们研究了 58 名 Hb S/β-地中海贫血成人、52 名β-地中海贫血表型成人和 34 名健康对照者。BMD 通过双能 X 线吸收法（DEXA）测定。研究了骨代谢的生化标志物（血清钙、磷、碱性磷酸酶、骨钙素）和影响骨代谢的参数（血清甲状旁腺激素、促甲状腺激素、25-羟维生素 D、OPG、可溶性 RANKL[sRANKL]）。β-地中海贫血表型患者的股骨颈 Z 评分为 93.2%，Hb S/β-地中海贫血患者为 83.0%，均在预期范围内。β-地中海贫血患者的腰椎 Z 评分为 89.1%，Hb S/β-地中海贫血患者为 90.2%，均低于-2.0 SD。对照组的 Z 评分在预期范围内。Hb S/β-地中海贫血、β-地中海贫血表型和对照组的血清 sRANKL 中位数水平分别为 2.80、4.52 和 5.79 pmol/L（ = 0.010）。Hb S/β-地中海贫血、β-地中海贫血表型和对照组的血清 OPG 中位数水平分别为 1.07、0.86 和 0.86 pmol/L（ < 0.001）。单独的β-地中海贫血表型不是骨质疏松症/骨质疏松症的危险因素，并且在 Hb S/β-地中海贫血的绝经前妇女和 50 岁以下男性中不会发生骨质疏松症。然而，正如我们所确定的那样，骨钙素水平较低，sRANKL 代偿性下降，OPG 代偿性增加，这些患者群体在年龄较大时可能会发展为更严重的骨质疏松症。
