Rare Diseases Center, Department of Medicine and Medical Specialities, Ca' Granda Foundation IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Department of Clinical Sciences and Community Health, University of Milan, Via F. Sforza, 20122 Milan, Italy.
Biomed Res Int. 2014;2014:174581. doi: 10.1155/2014/174581. Epub 2014 Jul 7.
Data about endocrine and bone disease in nontransfusion-dependent thalassaemia (NTDT) is scanty. The aim of our study was to evaluate these complications in β-TI adult patients.
We studied retrospectively 70 β-TI patients with mean followup of 20 years. Data recorded included age, gender, haemoglobin and ferritin levels, biochemical and endocrine tests, liver iron concentration (LIC) from T2*, transfusion regimen, iron chelation, hydroxyurea, splenectomy, and bone mineralization by dual X-ray absorptiometry.
Thirty-seven (53%) males and 33 (47%) females were studied, with mean age 41 ± 12 years, mean haemoglobin 9.2 ± 1.5 g/dL, median ferritin 537 (range 14-4893), and mean LIC 7.6 ± 6.4 mg Fe/g dw. Thirty-three patients (47%) had been transfused, occasionally (24/33; 73%) or regularly (9/33; 27%); 37/70 (53%) had never been transfused; 34/70 patients had been splenectomized (49%); 39 (56%) were on chelation therapy; and 11 (16%) were on hydroxyurea. Endocrinopathies were found in 15 patients (21%): 10 hypothyroidism, 3 hypogonadism, 2 impaired glucose tolerance (IGT), and one diabetes. Bone disease was observed in 53/70 (76%) patients, osteoporosis in 26/53 (49%), and osteopenia in 27/53 (51%).
Bone disease was found in most patients in our study, while endocrinopathies were highly uncommon, especially hypogonadism. We speculate that low iron burden may protect against endocrinopathy development.
关于非输血依赖型地中海贫血（NTDT）的内分泌和骨骼疾病的数据很少。我们研究的目的是评估这些并发症在β-TI 成年患者中的情况。
我们回顾性研究了 70 例β-TI 患者，平均随访 20 年。记录的数据包括年龄、性别、血红蛋白和铁蛋白水平、生化和内分泌检查、T2*的肝铁浓度（LIC）、输血方案、铁螯合、羟基脲、脾切除术以及双能 X 线吸收法测定的骨矿物质化。
37 名男性（53%）和 33 名女性（47%）接受了研究，平均年龄为 41±12 岁，平均血红蛋白 9.2±1.5g/dL，中位铁蛋白 537（范围 14-4893），平均 LIC 为 7.6±6.4mgFe/gdw。33 名患者（47%）接受过输血，偶尔（24/33；73%）或定期（9/33；27%）输血；37 名患者（53%）从未接受过输血；70 名患者中有 34 名（49%）接受了脾切除术；39 名患者（56%）接受了螯合治疗；11 名患者（16%）接受了羟基脲治疗。15 名患者（21%）出现内分泌疾病：10 例甲状腺功能减退，3 例性腺功能减退，2 例葡萄糖耐量受损（IGT），1 例糖尿病。53 名患者（76%）观察到骨骼疾病，26 名患者（49%）骨质疏松，27 名患者（51%）骨质减少。
在我们的研究中，大多数患者发现有骨骼疾病，而内分泌疾病非常罕见，特别是性腺功能减退。我们推测，低铁负荷可能有助于预防内分泌疾病的发生。
