关键词： 地中海贫血   平均红细胞容积(MCV)   地中海贫血基因检测  

摘要： 目的:探讨MCV(红细胞平均体积)和地中海贫血的相关性,确定MCV最佳临界值,从而达到早发现、早诊断、指导婚配,降低地贫患儿的出生率.方法:采用SYSMEX XT-2000i全自动血细胞分析仪对300对在我站做孕优检查的夫妻做血常规检测,抽取初筛MCV＜82fl 375名(实验组)做地贫的基因检测,了解本方法的敏感性,225名MCV＞82fl作为对照组,做地贫的基因检测以了解本方法的特异性.结果:375名MCV＜82fl基因检测诊断为地贫的360人(包括a、β型),阳性率96％,225名MCV＞82fl对照组,经基因检测诊断为地中海贫血的5人,阳性率2.2％.结论:地中海贫血患者的MCV明显比正常人低,在82fl以下的占96％,MCV是地中海贫血筛查可靠、有效的指标.

关键词： 地中海贫血   琼脂糖凝胶电泳   血红蛋白分析  

摘要： 目的 :了解广西横县地区育龄人群地中海贫血的检出情况。方法 :对2013年1月至2015年1月期间在横县计划生育服务站婚检的育龄夫妇进行血常规和血红蛋白分析。结果 :22270例受检者中,平均红细胞体积(MCV)和平均红细胞血红蛋白含量(MCH)减低者5018例,血常规筛查阳性率为22.53%;α-地中海贫血筛查阳性者3244例,检出率为14.57%;β-地中海贫血筛查阳性者1430例,检出率为6.42%;异常血红蛋白26例,检出率0.12%;Hb A2’5例,检出率0.02%。结论 :广西横县地区育龄人群地中海贫血的检出率较高,婚检中实行地中海贫血筛查和遗传咨询,有助于预防地中海贫血患儿的出生。

关键词： 毛细管血红蛋白电泳   地中海贫血   基因诊断  

摘要： 目的评估全自动毛细管血红蛋白电泳在地中海贫血诊断筛查的应用价值。方法应用全自动毛细管血红蛋白电泳仪,对2177例在我院住院和门诊的患者进行血红蛋白分析；同时应用单管多重PCR法和RDB/PCR技术分别检测其α,β-地中海贫血基因诊断。结果2177例血红蛋白分析中HbA2<2.5%的653例，占30.00%。HbA2>3.5%的230例，占10.56%。抽取其中HbA2<2.5%的116例、HbA2>3.5%的115例进行α,β地中海贫血基因诊断。HbA2<2.5%的116例进行α缺失型、中国人常见的三种α非缺失型和中国人常见的17种β-地中海地贫血基因诊断,检测出94例α-地贫，符合率为81.03%。 HbA2>3.5%的115例α缺失型、中国人常见的三种α突变和中国人常见的17种β-地中海贫血基因诊断,检测出98例β-地贫，16例α并β复合地贫，符合率为99.13%。结论采用毛细管电泳技术的血红蛋白分析与基因分析有良好的符合性,可用于地中海贫血诊断的筛查。

关键词： BETA-Thalassemia   MUTATION (Biology)   BLOOD transfusion   HEMOGLOBIN   DISEASE progression   CASE studies  

摘要： In this report we have tried to explain the reasons behind the difference in the pattern of transfusion requirement between two members of a family with similar beta-globin mutation. The father and younger son both are HbE-beta, but the father never had transfusion, whereas the younger son takes transfusion monthly. Mother and the elder son are HbEE without any history of transfusion beta-globin mutations of all family members were determined by ARMS-PCR. These were reconfirmed by direct sequencing of beta-globin gene. Father and younger son were found to be Cod 26 (G-A)/IVS 1-5 (G-C), whereas mother and elder son were found to be Cod 26 (G-A)/Cod 26 (G-A). XmnI sequencing also revealed that all members of the family were CC. Then, flow cytometry study of red blood cells (RBCs) was performed to measure the oxidative stress of the RBCs. This study was also done on the light and dense fractions of the RBC population of the father and younger son. It was seen that the younger son suffers severe oxidative stress, which can be explained by his higher transfusion requirement. From our work, we have established the importance of taking oxidative stress of RBCs into consideration to explain the clinical manifestation and progression of haemoglobin related diseases like thalassaemia.

关键词： BIOCHEMICAL markers   BETA-Thalassemia   PATIENTS   JUVENILE diseases   BLOOD transfusion   CHELATION therapy   TREATMENT  

摘要： Objectives. Skeletal complications in β-homozygous thalassemic patients are uncommon but often debilitating, even amongst children and adolescent patients with well maintained transfusion and chelation therapy. The aim is to evaluate the biochemical markers of bone turnover in regularly transfused thalassemic patients and its possible correlations with demographic data and hematological and biochemical markers. Methods. In this prospective cross-sectional study, 36 β-thalassemia major patients were enrolled from March 2012 to March 2014. All patients underwent complete blood counts, LFTs, serum ferritin, serum calcium, phosphorus, serum albumin, alkaline phosphatase, 25-OH vitamin D, and parathormone (PTH) levels. Results. There were 17 males and 19 females with mean age of 12.56 ± 5.9 years. Hypocalcemia and hypophosphatemia were seen in 66.6% and 19.4%, respectively, while 25-OH vitamin D deficiency was present in 72.2% of thalassemic children and adolescents. Hypoparathyroidism was seen in 13.8% while hyperparathyroidism was detected in 8.3% of patients. There was direct correlation between serum phosphorus and ferritin levels (P<0.05). No correlation was found between indirect bilirubin and skeletal parameters, calcium and parathyroid hormone (P>0.05). Conclusions. Biochemical profile is significantly altered in patients with β-thalassemia major and bone associated biochemical abnormalities like hypocalcaemia, 25-OH vitamin D deficiency, and hypophosphatemia are not uncommon in Pakistani patients with thalassemia major. © 2016 Sadia Sultan et al.

关键词： 地中海贫血   缺铁性贫血   血液检验  

摘要： 目的:分析血液检验在诊断与鉴别诊断地中海贫血以及缺铁性贫血中的临床应用效果。方法:随机选取我院从2014年7月至2015年7月收治的地中海贫血以及缺铁性贫血患者各37例,另随机选取同时期来我院进行血液检验的健康人员37例,分别命名为地中海贫血组、缺铁性贫血组以及健康组,回顾性分析三组患者的临床资料,比较患者的各项血液检验结果。结果:地中海贫血组与缺铁性贫血组Hb值、RBC值、MCV值、MCH值、MCHC值均明显低于健康组,差异具有统计意义(P<0.05),地中海贫血组RDW值与健康组比较差异无统计学意义(P>0.05)。缺铁性贫血组RDW值明显高于健康组,差异具有统计学意义(P<0.05)。地中海贫血组Hb值、RBC值、MCHC值明显高于缺铁性贫血组,RDW值明显低于缺铁性贫血组,以上差异均具有统计学意义(P<0.05)。MCV值与MCH值两组患者差异无统计学意义(P<0.05)。结论:地中海贫血以及缺铁性贫血患者应用血液检验诊断与鉴别诊断具有较好的临床效果,可在临床上应用推广。

关键词： THYROID antagonists   PEROXIDASE   IMMUNOGLOBULINS   DIABETICS   BETA-Thalassemia   PATIENTS   BIOCHEMICAL markers   THERAPEUTIC use  

摘要： Background. Intensive transfusion schedule and iron-chelating therapy prolonged and improved quality of life in patients with beta-thalassemia (beta-T) major. However, this led to an increased risk of developing impaired glucose tolerance or diabetes. In this study we analyzed variables associated with the occurrence of impaired glucose tolerance or diabetes in patients with beta-T major. Methods. 388 Sardinian patients were included. Age, gender, duration of chelation therapy, body mass index, and markers of pancreatic and extrapancreatic autoimmunity were analyzed. Results. Multiple logistic regression analysis showed that anti-thyroid peroxidase (TPO) antibodies (Ab) (OR = 3.36;p = 0.008) and male gender (OR = 1.98;p = 0.025) were significantly associated with glucose impairment, while the other variables were not. Ferritin levels were significantly higher in TPOAb positive compared to TPOAb negative patients (4870 +/- 1665 mu g/L versus 2922 +/- 2773 mu g/L;p < 0.0001). Conclusions. In patients with beta-T major a progressive damage of insulin-producing cells due to secondary hemosiderosis appears to be the most reasonable mechanism associated with glucose metabolism disorders. The findings need to be confirmed with additional well designed studies to address the question of whether TPOAb may have a role in the management of these patients.

关键词： 地中海贫血   缺铁性贫血   血常规检验   结果区别  

摘要： 目的探讨地中海贫血及缺铁性贫血在血常规检验结果中的区别。方法将我院3年之内收治的缺铁性贫血患者100例设置为对照组,地中海贫血患者100例设置为观察组,对两组患者均实施血常规检验,比较检验结果中的区别。结果观察组细胞平均体积和红细胞体积分布宽度方面明显低于对照组,红细胞平均血红蛋白浓度明显高于对照组,差异显著(P<0.05),有统计学意义。但两组患者在红细胞平均血红蛋白量上的差异不显著(P>0.05),无统计学意义。结论通过对细胞平均体积、红细胞体积分布宽度、红细胞平均血红蛋白浓度以及红细胞平均血红蛋白量进行分析能够较好的区别地中海贫血以及缺铁性贫血患者。

关键词： HYPERBILIRUBINEMIA   HEPATITIS C virus   CIRRHOSIS of the liver   THALASSEMIA treatment   DRUG efficacy  

摘要： Hyperbilirubinemia is an adverse reaction of simeprevir (SMV). The majority of these patients were taking concurrent ribavirin presenting elevated unconjugated hyperbilirubinemia due to hemolysis. However, cases of hepatic failure with elevated bilirubin level have also been reported in patients with decompensated cirrhosis. We describe a 51-year-old female patient with HbS beta 0-thalassemia and recently diagnosed compensated cirrhosis due to chronic hepatitis C infection. Laboratory evaluation revealed total bilirubin: 2.7mg/dL and serum HCV-RNA 137.204 IU/mL. HCV was genotyped as 4. A FibroScan revealed 35.3 kPa. She was considered as illegible for pegylated-interferon-free treatment with direct acting antivirals and a course with simeprevir and sofosbuvir (SOF) combination for twelve weeks was planned. Hyperbilirubinemia developed from the beginning with peak values during the 3rd month of treatment. However, no findings of liver decompensation were noticed. Hyperbilirubinemia was benign and fully reversible and our patient finally achieved sustained virological response 24 weeks after the end of treatment.

关键词： 缺铁性贫血   血常规   地中海贫血   诊断  

摘要： 目的 :探索血常规检测在缺铁性贫血诊断中的价值。方法 :在我院收治的缺铁性贫血、地中海贫血患者各50例以及同期来我院体检的健康人50例作为本次研究的对象,对全部受检对象血常规检验,对比分析三组受检对象的红细胞分布宽度、平均红细胞体积、平均红细胞血红蛋白量、平均血红蛋白浓度等指标之间的差异。结果 :在RDW、MCV、MCH、MCHC指标的对比上,三组间的差异较大,P<0.05。结论 :在缺铁性贫血的诊断中,进行血常规检测血清RDW、MCV、MCH、MCHC水平,有助于临床医生确诊,为后续治疗提供准确的数据依据。