Sulaymaniyah Directorate of Health, Hewa Oncology Hospital, Sulaymaniyah, Iraq.
Department of Pathology, College of Medicine, University of Sulaymaniyah, Sulaymaniyah, Iraq.
Biomed Res Int. 2020 Feb 28;2020:2807120. doi: 10.1155/2020/2807120. eCollection 2020.
To determine the molecular characterization and disease-associated complications of beta-thalassemia intermedia (-TI) patients in Sulaymaniyah province, northeastern Iraq.
A total of 159 -TI) patients in Sulaymaniyah province, northeastern Iraq. -TI) patients in Sulaymaniyah province, northeastern Iraq.
Nineteen different -globin gene mutations arranged in 37 various genotypes were determined. The most frequent were IVS-II-I (G>A) (47.2%), followed by IVS-I-6 (T>C) (23.3%) and IVS-I-110 (G>A) (5%). Among disease-related morbidities documented, bone disease amounted to 53% (facial deformity and osteoporosis), followed by endocrinopathies 17.6% (growth retardation and subclinical hypothyroidism), cholelithiasis 13.8%, pulmonary hypertension 11.3%, and abnormal liver function test 7.5%, whereas venous thrombosis, extramedullary hemopoiesis, and leg ulcer were less frequently observed. Age ≥ 35 and female sex were risk factors for cholelithiasis, while age was an independent risk for hypothyroidism and female sex was associated with increased risk for osteoporosis. Mean serum ferritin of ≥1000 g/L was associated with an increased risk of osteoporosis, whereas chelation therapy was protective for a multitude of other complications. Transfusion, on the other hand, increased the risk of osteoporosis, yet it was protective for cholelithiasis and hypothyroidism. Moreover, splenectomy was protective for cholelithiasis, although it was an independent risk for hypothyroidism. Finally, hydroxyurea was associated with an increased risk of osteoporosis, while it was protective for cholelithiasis. -thalassemia mutation had contributed to 41.25 of families with a less severe -thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity. In addition, the substantial number of -TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention.-TI) patients in Sulaymaniyah province, northeastern Iraq. g/L was associated with an increased risk of osteoporosis, whereas chelation therapy was protective for a multitude of other complications. Transfusion, on the other hand, increased the risk of osteoporosis, yet it was protective for cholelithiasis and hypothyroidism. Moreover, splenectomy was protective for cholelithiasis, although it was an independent risk for hypothyroidism. Finally, hydroxyurea was associated with an increased risk of osteoporosis, while it was protective for cholelithiasis. -thalassemia mutation had contributed to 41.25 of families with a less severe -thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity. In addition, the substantial number of -TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention. -thalassemia mutation had contributed to 41.25 of families with a less severe -thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity. In addition, the substantial number of -TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention.-TI) patients in Sulaymaniyah province, northeastern Iraq. -TI) patients in Sulaymaniyah province, northeastern Iraq.
确定伊拉克东北部苏莱曼尼亚省中间型β-地中海贫血（-TI）患者的分子特征和与疾病相关的并发症。
对伊拉克东北部苏莱曼尼亚省的 159 例-β-TI 患者进行研究。
确定了 19 种不同的β-珠蛋白基因突变，排列成 37 种不同的基因型。最常见的是 IVS-II-I（G>A）（47.2%），其次是 IVS-I-6（T>C）（23.3%）和 IVS-I-110（G>A）（5%）。在所记录的与疾病相关的发病机制中，骨骼疾病占 53%（面部畸形和骨质疏松症），其次是内分泌疾病 17.6%（生长迟缓和亚临床甲状腺功能减退症）、胆石症 13.8%、肺动脉高压 11.3%和肝功能异常 7.5%，而静脉血栓形成、骨髓外造血和腿部溃疡则较少见。年龄≥35 岁和女性是胆石症的危险因素，而年龄是甲状腺功能减退症的独立危险因素，女性则与骨质疏松症的风险增加有关。血清铁蛋白≥1000μg/L 与骨质疏松症的风险增加有关，而螯合治疗对多种其他并发症有保护作用。输血，另一方面，增加了骨质疏松症的风险，但对胆石症和甲状腺功能减退症有保护作用。此外，脾切除术对胆石症有保护作用，但对甲状腺功能减退症是一个独立的危险因素。最后，羟基脲与骨质疏松症的风险增加有关，而对胆石症有保护作用。-地中海贫血突变导致伊拉克东北部 41.25%的家族出现较轻的 -地中海贫血表型，这证明需要研究遗传修饰因子在改善疾病严重程度方面的作用。此外，大量的-β-TI 患者出现与疾病相关的发病机制，这需要更适当的临床管理和更早的干预。
