Effect of zoledronic acid on markers of bone turnover and mineral density in osteoporotic patients with beta-thalassaemia

Osteoporosis has emerged as an important cause of morbidity in patients with thalassemia major. Studies regarding the efficacy of bisphosphonates in thalassemia-induced osteoporosis have yielded conflicting results. We performed this prospective study to evaluate the efficacy of zoledronic acid in osteoporotic patients with thalassemia major. Patients, 29, were given 1 mg zoledronic acid intravenously every 3 months for a total of four doses. Twenty age- and sex-matched healthy blood donors served as controls. Before each infusion and 3 months after the last infusion, we determined serum levels of osteoprotegerin (OPG), N-terminal cross-linking telopeptide of type I collagen (NTX), osteocalcin (OC) and insulin-like growth factor 1 (IGF-1). Bone mineral density (BMD) of the lumbar spine was measured at baseline and after the treatment’s completion. At baseline, OPG did not differ significantly between patients and controls (p=0.2), NTX were higher in patients although not significantly (p=0.139), whereas, OC levels were significantly higher and IGF-1 levels significantly lower in patients than in controls (p<0.001 and p<0.006, respectively). Zoledronic acid administration resulted in a significant decrease in NTX, OC and IGF-1 (p<0.05, p<0.001 and p<0.05, respectively) and in a significant increase in OPG and BMD (p<0.05 for both comparisons). The change in NTX, osteocalcin and IGF-1 became significant as early as 3 months after the first administration of zoledronic acid, while the change in OPG reached significance only after three infusions. Our study supports the effectiveness of bisphosphonates in the treatment of thalassemia-induced osteoporosis.     

红细胞参数对β-地中海贫血筛查的意义

目的对β-地中海贫血患者的红细胞参数进行分析,探讨红细胞参数分析对β-地中海贫血患者的临床意义。方法分析150例β-地中海贫血患者的红细胞平均容积（MCV）、红细胞平均血红蛋白含量（MCH）、红细胞平均血红蛋白浓度（MCHC）、红细胞体积分布宽度标准差（RDW—SD）、红细胞体积分布宽度变异系数（RDW—CV）及红细胞渗透脆性。结果MCV、MCH、MCHC、RDW-SD、RDW—CV及红细胞渗透脆性检测对β-地中海贫血诊断的灵敏度分别为98．7％、96．0％、87．3％、78．0％、94．7％和84．7％,相应的诊断特异度分别为88．9％、82．4％、81．5％、77．8％、78．7％和88．0％。MCV、MCH、MCHC、RDW—SD及RDW-CV并联检测的诊断灵敏度和特异度分剐为99．3％和52．8％,MCV、MCH、MCHC、RDW—SD、RDW-CV及红细胞渗透脆性并联检测的诊断灵敏度和特异度分别为100％和51．0％。结论血液分析仪的五种红细胞参数并联分析对β-地中海贫血筛查有较高的诊断灵敏度,若结合红细胞渗透脆性试验,其诊断灵敏度可进一步提高。因此多参数血液分析结合红细胞渗透脆性可以满足临床对β-地中海贫血的筛查。     

Early detection of myocardial dysfunction in children with beta-thalassaemia major

To evaluate left and right ventricular myocardial performance using pulsed-tissue Doppler imaging (TDI) and its relation to BNP levels in patients with beta-thalassaemia major (ß-TM). We enrolled 36 thalassaemic patients (21 male, 15 female; mean age: 14.2 ± 4.1 years) with normal left ventricular systolic and diastolic functions with conventional echocardiography and 30 healthy control subjects (18 male, 12 female, and 12.5 ± 4.2 years). Myocardial performance indexes (MPI) of left ventricular (LV) lateral wall, interventricular septum (IVS) and right ventricular (RV) lateral wall were calculated with TDI. Plasma BNP levels were measured in all patients. MPIs and other echocardiographic parameters of patients with ß-TM were compared with control group. All the patients’ plasma BNP levels were within normal limits. There were no differences between conventional echocardiographic parameters of patients and control group. MPI of LV, IVS, and RV of patients were significantly higher than control group (P = 0.01, and P < 0.01, and P < 0.001, respectively). Our study confirms that MPI obtained by TDI seems to be an early sensitive parameter of cardiac dysfunction in ß-TM. We concluded that MPI obtained by TDI may be an adjunctive parameter to conventional echocardiography for detecting early myocardial damage.     

Cerebral thrombosis in beta-thalassaemia major

Two patients with homozygous beta thalassaemia complicated by cerebral thrombosis are reported. An alteration in coagulability due to a sudden increase in haematocrit and platelets was the probable cause in one patient. Although the other patient had many complications of thalassaemia, the cause for cerebral thrombosis was not identifiable.     

广西重型β地中海贫血HBS1L-MYB基因多态性与胎儿血红蛋白的相关性研究

目的：研究HBS1L-MYB基因rs35959442、rs4895441和rs9399137位点多态性与胎儿血红蛋白（ HbF）的相关性。方法通过聚合酶链反应－限制性片段长度多态性,DNA测序技术检测广西籍64例重型β地中海贫血患者（病例组）及64例健康对照组HBS1L-MYB基因rs35959442、rs4895441和rs9399137位点多态性,并分析它们与HbF水平的相关性。结果病例组HBS1L-MYB基因rs4895441和rs35959442位点G等位基因频率均明显高于健康对照组（P＜0．05）,而两组rs9399137位点等位基因频率及基因型分布比较,差异无统计学意义（P＞0．05）。 rs4895441位点、rs35959442位点与HbF水平呈正相关关系（P＜0．0167）,rs9399137位点与HbF无相关关系（P＞0．0167）。结论广西重型地中海贫血HBS1L-MYB基因多态性与HbF水平有关,rs35959442和rs4895441位点基因突变可能有助于提高HbF的水平。     

羟基脲治疗重型β地中海贫血

目的观察羟基脲治疗重症β-地中海贫血患儿的疗效并且对其不良反应进行评估。方法对15例重症β地中海贫血患儿应用羟基脲[10~20mg/(kg·d]治疗,治疗期间对患儿全血细胞计数、血红蛋白F、肝肾功能进行监测,治疗后6个月对疗效进行评估。结果治疗后5个月患儿血红蛋白及血红蛋白F较治疗前明显升高(72·5±6·1)vs(93·6±11·9),(45·58±15·79)vs(73·37±23·89),P<0·05;而网织红细胞值明显降低(32·17±10·74)vs(15·87±7·29),P<0·05。治疗期间未见明显的不良反应。结论羟基脲可改善重症β-地中海贫血患儿的贫血状态且无明显的不良反应。     

重型β地中海贫血肝脏铁沉积的MRI与病理学相关分析

目的 通过与组织病理学对照,探讨MRI评价重型β地中海贫血肝脏铁沉积的价值.方法 对35例重型β地中海贫血患者行肝脏、脾脏MR检查并进行肝脏穿刺活检,在TSE T2WI上测量肝脏/肌肉、脾脏/肌肉信号强度比,与血清铁蛋白、肝穿刺活检中的肝含铁血黄素细胞百分比之间进行相关性分析.结果 35例地中海贫血的肝/肌信号强度为(0.53±0.24),脾/肌信号强度比为(2.47±1.71),血清铁蛋白为(2912.77±1646.01)μg/L,肝脏含铁血黄素细胞百分比为(61.57%±18.26%,中位数60.00%).肝/肌信号强度比与血清铁蛋白、肝含铁血黄素细胞百分比均呈负相关(r＝-0.38,-0.44,P均<0.05),脾/肌信号强度比与血清铁蛋白负相关(r＝-0.41,P=0.03),但脾/肌信号强度比、血清铁蛋白与含铁血黄素细胞百分比均无相关性.结论 MRI测量肝脏信号强度比可作为无创伤性动态评估肝脏铁负荷的一个补充方法.     

Hepatitis C virus antibodies in a long-term follow-up of beta-thalassaemic children with acute and chronic non-A non-B hepatitis

The presence of antibodies toward hepatitis C virus (HCV) was examined in 78 polytransfused betathalassaemic children. The anti-HCV status was correlated with acute and chronic non-A non-B (NANB) hepatitis that developed during a follow up of about 13 years. Anti-HCV was present in 83.3% of children with acute NANB hepatitis and in 82.9% of those with chronic NANB hepatitis. The percentage of chronic evolution was 56.7% for acute anti-HCV positive NANB hepatitis and 50.0% for anti-HCV negative NANB hepatitis. The long-term persistence of anti-HCV antibodies did not correlate with chronic evolution of liver infection in thalassaemic patients. Histological features of chronic hepatitis showed little or no difference between HCV associated or non-associated liver disease. The multifactorial liver injury in beta-thalassaemic children explains the high prevalence of cirrhosis (about 30%) observed in these patients with NANB hepatitis. On the other hand, independent of liver disease, some patients never seroconverted during the follow up in spite of the high number of transfusions suggesting the existence of non-responders.     

Increased rate of sister chromatid exchanges in β-thalassaemia

Summary Blood lymphocytes from patients with -thalassaemia have a higher rate of sister chromatid exchanges than controls after 94 h in culture and 39 h in the presence of 5-bromodeoxyuridine. The rate was slightly increased for the present sample in the absence of transfusion but was essentially independent of serum folate concentration, splenectomy, age, sex, thalassaemia genotype, haemoglobin level, lymphocyte count, and clinical status as recorded in this study.