关键词： α地中海贫血   中间型   痛风   膝关节疼痛   双踝关节   输血治疗   重度贫血   体格检查  

摘要： 例1．男，56岁，仫佬族。因反复双踝关节、膝关节疼痛4年余于2008年11月24日入院。平素常吃海鲜、生鱼片等。9岁时诊断中间型仪地中海贫血，反复多次输血治疗。入院时体格检查：重度贫血貌，巩膜轻度黄染。心肺未见异常。腹平软，肝右肋下3cm可及，脾左肋下4cm可及。右膝关节轻微肿胀，屈伸受限。

关键词： 地中海贫血   治疗   预防   休息   营养  

摘要： 我亲戚的孩子被查出有地中海贫血。有人说这种病很严重，我们很担心。此病可以治愈吗？会不会影响到他将来的求学、工作、结婚、生子？

关键词： 地中海贫血   临床路径   评价   探讨  

摘要： 目的:探讨β-地中海贫血临床路径并评价。方法:30例β-地中海贫血患儿分为对照组和路径组,对照组进行常规治疗、护理;路径组给予治疗路径、护理路径、健康宣教路径及随访路径模式,并对医疗成本和医护效果满意度进行评价。结果:路径组患儿在住院天数、住院总费用、药费方面和对照组相比均降低,差异有非常显著性(P<0.01)。对于医护效果满意度,路径组和对照组相比提高,差异有非常显著性(P<0.01)。结论:β-地中海贫血临床路径能降低患儿住院费用及缩短住院天数,提高对医护效果的满意度,可考虑加以改进和推广。

关键词： 地中海贫血   筛查结果分析   血红蛋白病   珠蛋白肽链   优生优育   婚前体检   遗传病   阳性率  

摘要： 地中海贫血简称地贫,是一种遗传病,是由于珠蛋白肽链量和组合异常而导致的血红蛋白病,此病可防不可治。本调查旨在了解本地区的地贫阳性率,为优生优育,婚前体检就加强措施提供科学依据。

关键词： 地中海贫血   妊娠   筛查   结局  

摘要： 目的:探讨妊娠合并轻型地中海贫血(地贫)筛查的方法及意义。方法:对信阳职业技术学院附属医院1998～2008年14例妊娠合并轻型地中海贫血的孕妇的筛查、围生期处理、新生儿情况进行分析。结果:14例妊娠合并轻型地中海贫血,1例剖宫产终止妊娠,13例阴道分娩终止妊娠。2例发生产后出血。14例新生儿均无畸形,无低体重儿,14例新生儿均行地贫筛查均非地贫患者。结论:检测MCV、MCH可作为筛查轻型地贫的指标,轻型地贫患者能够妊娠至足月并分娩。如无明显症状则无需治疗,如无产科剖宫产指征,可经阴道分娩。新生儿应行地贫筛查。

关键词： Deferroxamine   Deferiprone   Deferasirox   Combination   Sequential   Thalassemia Major  

摘要： Objective: To assess the efficacy and safety of the sequential deferoxamine (DFO) and deferasirox/Osveral (OSV) [(Seq OSV/DFO)] protocol and combinations of Deferroxamine/Deferiprone (Corn DFO/DEF) in thalassemia major (TM) patients. Methodology: A total of 148 male and 142 female patients of thalassemia major (TM) were enrolled in these studies. Out of 290 patients sixty two (31 male, 31 female) aged 6 to 30 years (mean: 18.5) entered into Seq OSV/DFO study and 228 TM (117 male, 111 female) aging 2 through 36 years (mean: 17) were eligible for Corn DFO/DEF trial. Seq OSV/DFO was a regimen consisted of four days Osveral followed by three days deferoxamine and Corn DFO/DEF was a protocol of DEF seven days a week, along with DFO of a minimum of two to four nights per week. The duration of trial was six months. The efficacy was determined by comparison of pre and post treatment ferritin and safety was assessed by frequency of adverse drugs reaction (ADR). Results: For both regimens serum ferritin declined significantly and compliance response was excellent. During trials 33.8% and 21% of patients experienced at least one ADR for combination and sequential respectively. Conclusion: Deferoxamine (DFO)/deferasirox (OSV) and Deferroxamine/Deferiprone(DEF) are acceptable regimens with high efficacy, low toxicity and excellent compliances.

关键词： Iron deficiency   Iron Deficiency Anaemia   Minor Thalassemia   School girls  

摘要： Objectives: To investigate the frequency of causes of anaemia among adolescent school girls in Ahvaz in 2009. Methodology: A cross-sectional study was conducted on 208 Adolescent girls aged 15-19 years from high schools in Ahvaz. Blood samples were taken from all patients and were sent to laboratory for determination of complete blood count (CBC) test, serum ferritin (SF), hemoglobin electrophoresis (Hb F, Hb A2) was done for all of the anaemic cases. Iron deficiency anaemia was defined as a situation where Hb is less than 12 g/dl and ferritin is less than 12 ng/ml. Beta-thalassemia were identified by high performance liquid chromatography (HPLC) analysis of hemoglobin and Hb A2>3.4. Result: Of the 208 patients, 37 cases (17.8%) were anemic and Iron deficiency anaemia was found in only 11 from 208 children (5.3%), minor beta thalassemia was found in only five of 208 children (2.4%), mixed beta thalassemia and iron deficiency anaemia was found in four of 208 (1.9%) and other patient with anaemia 19 patient (9.1%) minor alpha thalassemia was considered. anybody of students were macrocytic anaemia. Conclusion: The results suggest that thalassemia and iron deficiency anaemia may be major contributing factors to the occurrence of anaemia in this area among schoolgirl population.

关键词： 地中海贫血   输血频次   高量输血  

摘要： 目的了解重型β珠蛋白生成障碍性贫血(地贫)患者输血治疗现状。方法 2010-01-01/2010-06-30在作者医院定期输血的重型β地贫246例,男163例,女83例,分析患者的输血频次和输血量,检测输血前血红蛋白、网织红细胞及胆红素。结果所有患者中,51例(20.73%)间隔不足21天输血1次,122例(49.59%)每21～35天输血1次,73例(29.67%)超过35天输血一次。输血前平均血红蛋白(76.10±18.30)g/L,79例(32.11%)超过90g/L。输血前网织红细胞、胆红素、间接胆红素则与血红蛋白水平成负相关。结论多数重型β地贫患者能按时输血,但输血效果欠佳,只有部分达到高量输血的目的。

关键词： 新生儿脐血   筛查   β地中海贫血  

摘要： 目的探讨红细胞渗透脆性试验和血红蛋白A测定在筛查新生儿轻型β地中海贫血中的应用，提高新生儿轻型β地中海贫血的诊断率。方法选择2009年1月-2010年12月间，在我院足月分娩的新生儿脐血，采用一管筛查法检测红细胞脆性以及全自动血红蛋白电泳分析系统作血红蛋白A区带定量测定分析。结果共检测7023例新生儿，分出正常组（6834例）和可疑组（189例），经基因确诊159例为β地中海贫血患儿，检出率为84．13％，而且正常组和可疑组之间比较差异有非常显著性（P〈0．01）。结论脐血红细胞渗透脆性和血红蛋白A定量，再结合父母家系血红蛋白分析，可作为新生儿筛查β地中海贫血的重要指标。

关键词： α地中海贫血   Hb   H病   基因型   基因突变  

摘要： 目的:对广西地区儿童α地中海贫血血红蛋白H病(Hb H病)进行基因分析,明确基因突变类型。方法:应用多重PCR、反向斑点杂交及DNA测序方法进行α地中海贫血基因突变分析;应用统计软件SPSS13.0对数据进行统计分析。结果:200例Hb H病患儿检出104例缺失型Hb H病,占52.0%,包括67例--SEA/-α3.7,36例--SEA/-α4.2,1例--Thai/-α3.7;非缺失型HbH病96例,占48.0%,包括86例--SEA/αCSα,8例--SEA/αQSα,1例--Thai/αCSα及1例--SEA/α△30α。血红蛋白分析显示非缺失型Hb H病患儿的Hb H水平高于缺失型Hb H病(P<0.001)。结论:广西地区儿童Hb H病基因突变类型多样,以缺失型HbH病为主。首次在广西儿童中检出罕见的α2珠蛋白基因密码子30缺失及泰国缺失型α地中海贫血导致的Hb H病,丰富了Hb H病基因突变的研究,可为遗传咨询及将来的产前诊断提供重要的依据和指导。