关键词： 地中海贫血   --^THAI   HPFH-SEA   DBT   溶解曲线法  

摘要： 目的地中海贫血是一种中国南方沿海地区高发的单基因遗传疾病。由于常用检测试剂盒的检测范围并未囊括--THAI、HPFH-SEA和DBT(中国型缺失,Gγ+(Aγδβ)0)等等位基因,我们需要开发一种可快速诊断这三种等位基因的检测体系。方法针对--THAI、HPFH-SEA和DBT等位基因设计引物,采用溶解曲线法构建检测体系。结果经--THAI、HPFHSEA和DBT等位基因阳性标本验证实验表明,该体系可较好地检出这三种地中海贫血等位基因。结论该体系采用溶解曲线法为基础方法,具有速度快、分型准确和成本低的优点,适合基层应用。

关键词： extramedullary hematopoietic   decompressive laminectomy   thalassemia major  

摘要： Spinal cord compression due to extramedullary hematopoiesis (EMH) is a rare complication of thalassemia and generally presents as paraparesis with sensory impairment. Complete paraplegia is extremely rare in EMH due to thalassemia although it is known to occur in polycythemia vera and sickle cell anemia. Cases presenting with paraparesis have been treated with either surgery or radiotherapy with equal frequency and efficacy. Almost all reported cases with paraplegia have been treated with surgery with or without radiation therapy. As paraplegia secondary to EMH is rare, there is no consensus on treatment. We hereby report a case of thalassemia with paraplegia treated successfully with surgery. Treatment options for cord compression include primarily blood transfusion, surgery, and radiation therapy. Because of the extreme rarity of this condition, direct comparisons between various treatment modalities are not possible. The bias toward surgery is due to its immediate decompressing effect. EMH in thalassemia has also been treated with transfusion therapy with the rationale that correction of anemia would downregulate erythropoietin and lead to reversal of EMH. However, improvement with blood transfusion alone is usually incomplete and slow. Our patient did not improve after adequate blood transfusion and hence underwent surgical decompression after which he showed rapid and complete neurologic recovery. Therefore, we conclude that surgical decompression of EMH tissue has to be considered early in patients presenting with paraplegia if symptom shows no improvement after adequate blood transfusion.

关键词： Beta thalassemia   Mutations   District Charsadda   Pre-natal diagnosis  

摘要： Objective: Thalassemia is blood related disease which arises from the reduced level of hemoglobin in red blood cells (RBC), a protein responsible for carrying oxygen inside the body. Considering its widespread occurrence in developing countries like Pakistan, this study aims to investigate the common molecular anomalies of the beta thalassemia disease in district Charsadda, Khyber Pakhtunkhwa. Methods: This work was done at Abdul Wali Khan University (AWKU) Mardan, Khyber Pakhtunkhwa, Pakistan. The work was performed on the blood samples collected from the patients and their families with beta thalassemia major (n = 13 families) belonged to District Charsadda. The collected blood samples were analyzed for presence of six known mutations with the help of polymerase chain reaction technique i.e. amplification of refractory mutation system. Results: Our Study reports six known mutations (IVS-1-5, FSC 8/9, CD 41/42, IVS-1-1, CD 15 and FSC-5) accounting for about 90% of total beta thalassemia genes in this country. Among the reported mutations, IVS 1-5 was the most prevalent beta thalassemia gene in patients belonging to District Charsadda. Conclusion: The results and findings of the current study may help in accessing the frequency of these common mutations and in initiating pre-natal diagnosis programme in Pakistan.

关键词： Splenectomy   Thalassemia   Haemotological disorder  

摘要： Objective: To determine the surgical outcome of splenectomy in children with thalassemia major. Methods: It is an observational and descriptive study conducted in Department of Paediatric Surgery in collaboration with hematology, radiology, anesthesia and paediatric intensive care department at The Children's Hospital and the Institute of Child Health, Multan during the period of September 2007 to September 2013. A total of 50 patients suffering from thalassemia major already diagnosed and under management reffered from haematology department for splenectomy were included in this study. After admission, patients were assessed on the basis of history, clinical examination, and necessary investigations before surgery and later on follow-up. Investigations carried were CBC, PT, APTT, Viral markers, ECG, X-ray Chest, abdominal ultrasonography and ECHO if necessary. Splenectomy was performed after prophylactic vaccination against post splenectomy infections. Follow up was performed for at least two years. Blood transfusion requirements and number of hospital visits per annum before and after splenectomy were calculated and results analyzed statistically using SPSS-20. Results: Fifty patients were included in this study. Out of these fifty, 43 (86%) male and 7(14%) were female with a mean age of 9 years. Average blood transfusion requirement was 250 ml/kg/year, interval of blood transfusion was two weeks and twenty five visits per year before splenectomy. After splenectomy, requirement of blood transfusion reduced to 125ml/kg/year, interval between transfusion increased to one month and hospital visits reduced up to twelve per year. Conclusion: Blood transfusion requirement and number of hospital visits per year are decreased and interval between transfusions is increased after splenectomy. Splenectomy should not be delayed when indicated. Preoperative vaccination decreases the chance of post splenectomy infection.

关键词： 地中海贫血   产前诊断   双胎妊娠   三胎妊娠  

摘要： 目的:探讨双胎妊娠和三胎妊娠地中海贫血的产前基因诊断情况。方法:对27例双胎妊娠和三胎妊娠患者进行绒毛膜穿刺或羊膜囊穿刺胎儿取样,采取裂隙聚合酶链反应以及聚合酶链反应结合反向点杂交方法进行产前基因诊断。结果:在进行α地中海贫血产前基因诊断的20例双胎妊娠及1例三胎妊娠中,共对43个胎儿进行取材,共检测出6例Bart's水肿胎,3例血红蛋白H病。在进行β地中海贫血产前基因诊断的6例双胎妊娠中,共对9个胎儿进行取材,共检测到3例中重型β地中海贫血。结论:地中海贫血的多胎妊娠孕妇产前基因诊断能较有效检出Bart's水肿胎和中重型β地中海贫血患儿,可预防重型地中海贫血患儿的出生。

关键词： 血常规检验   地中海贫血   缺铁性贫血   鉴别诊断  

摘要： 目的研究血常规检验在地中海贫血和缺铁性贫血鉴别诊断中的临床应用效果。方法地中海贫血患者(THAL组)、缺铁性贫血患者(IDA组)与健康人员(对照组),各50例。均肘静脉取血2 ml,进行血常规检验,对比三组研究对象血红蛋白(Hb)、红细胞(RBC)计数、平均红细胞比容(MCV)、平均红细胞血红蛋白含量(MCH)和浓度(MCHC)以及红细胞体积分布宽度(RDW)指标。结果 THAL组及IDA组患者Hb、RBC、MCV、MCH、MCHC、RDW指标水平与对照组比较差异有统计学意义(P<0.05),且THAL组患者Hb、RBC、RDW指标与IDA组比较差异有统计学意义(P<0.05),而两组患者间MCV、MCH、MCHC指标比较差异无统计学意义(P>0.05)。结论可以将血常规检查检测的Hb、RBC、RDW指标作为鉴别THAL与IDA的辅助参考因素。临床利用血常规检查可以迅速有效地对THAL与IDA进行诊断鉴别,疗效显著,值得临床应用并推广。

关键词： 地中海贫血   治疗   预防  

摘要： 地中海贫血是一种由于遗传基因缺失或突变导致其指导合成的人血红蛋白肽链组成成分变化引起的单基因遗传病。该病最早发现于地中海沿岸地区因此而得名。地中海贫血在全球范围内广泛流行,尤其是在东南亚及地中海地区,其地理分布存在着与疟疾抵抗相关的地理差异。该病在我国的广西、广东、云南、海南等地发病率与死亡率较高[1]。目前该病尚无有效的治疗方法,重型地贫患者需通过输血来维持生命。

关键词： β地中海贫血   胎儿血红蛋白   BCL11A   中医药疗法  

摘要： 目的观察补气益精生血方药对中间型β地中海贫血(β地贫)患儿疗效及对关键红系反式作用因子的影响。方法采用随机对照双盲双模法将入选的β地贫患儿24例分为中药组11例及对照组10例,中药组口服黄芪、党参、龟板、当归颗粒及安慰剂片,对照组口服羟基脲片及安慰剂颗粒,疗程12周。观察2组血常规及胎儿血红蛋白(Hb F)比例等指标,并以实时荧光定量PCR反应检测BCL11A基因的转录表达水平。结果治疗后中药组血红蛋白值为(8.90±1.57)g/d L,对照组为(9.06±1.73)g/d L,2组比较无显著性差异(P>0.05),但2组治疗后Hb F均较治疗前有显著提升(P均<0.01)。中药组能显著下调BCL11A基因表达水平,由治疗前(0.34±0.11)copies下降至(0.18±0.13)copies(P<0.05),下调程度亦优于对照组(P<0.01)。结论补气益精生血法治疗小儿β地贫具有较好疗效,其分子机制可能与抑制BCL11A从而诱导胎儿血红蛋白生成有关。

关键词： 早孕期   产前诊断   经腹绒毛活检   染色体异常   地中海贫血  

摘要： 目的探讨早孕期经腹绒毛活检在产前诊断出生缺陷胎儿中的应用价值。方法收集、分析早孕期185例高危孕妇经腹绒毛活检的指征及染色体核型分析,地贫基因诊断结果资料。结果穿刺成功率99.5%(1例后壁胎盘穿刺失败),染色体核型检查细胞培养成功183例,失败2例,成功率98.9%。术后并发症,1例胎儿颈项透明层(NT)增厚胎儿术后死胎(核型为21-三体),流产率0.54%。绒毛活检指征中为胎儿淋巴水囊瘤、NT增厚、高龄妊娠、早孕期血清学筛查高风险、超声结构异常、夫妻双方地中海贫血。染色体异常检出率最高的指征为胎儿颈部淋巴水囊瘤,其次为超声结构异常,NT增厚。24例染色体异常胎儿,其中非整倍体22例,染色体结构异常2例。68例夫妻双方同型地贫基因携带孕妇检测出重型α或β地中海贫血胎8例。结论绒毛活检用于早孕期产前诊断出生缺陷胎儿有重要价值,尤其结合早孕期筛查超声为早筛查早诊断胎儿严重遗传性疾病提供重要的方法。为临床遗传咨询提供重要的依据。

关键词： 血红蛋白电泳   β-地中海贫血   基因诊断  

摘要： 目的初步了解长沙地区β地中海贫血的基因突变类型及构成比,了解其在临床检测的必要性。方法应用血红蛋白电泳、PCR及反向斑点膜条杂交技术(Reverse Dot Blot Hybridization,RDB)法对1970名受检对象进行基因诊断。结果 1970例地中海贫血受检者中,β地贫检出383例,其中654M位点突变发病率最高(171例),其次是41-42M(91例),其他的依次是CD71-72(15例)、CD17(51例)、CD26(8例)、CD43(9例)、-28(29例)、CD27/28(15例)、CAP(1例)、-29(2例)、654M位点复合-28位点(1例)、CD17位点复合CAP位点(1例)、-28纯合子(1例);异常血红蛋白(Hb E)8例。结论初步阐释长沙地区β-地中海贫血以中国人发病率高的突变类型为主,为遗传咨询提供一定的理论依据。