Thalassemia Reports最新文献

{"title":"Fast-track strategy for the prevention of Hb Bart’s hydrops fetalis syndrome","authors":"Narutchala Suwannakhon, Khajohnsilp Pongsawatkul, Teerapat Seeratanachot, Wirawan Rasri, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee, T. Sanguansermsri","doi":"10.4081/thal.2017.6620","DOIUrl":"https://doi.org/10.4081/thal.2017.6620","url":null,"abstract":"We propose a fast-track strategy [direct blood DNA analysis using a quantitative real-time polymerase chain reaction (PCR) technique] for the early risk detection and prenatal diagnosis of α(0)-thalassemia (SEA and Thai deletion). Blood DNA samples were obtained from a volunteer group of 1235 ANC couples. They were assessed using quantitative real-time PCR to detect carriers of α(0)-thalassemia (SEA and Thai deletion). At-risk couples were identified, and further prenatal diagnosis by amniocentesis was implemented. Fetal DNA was isolated from the amniotic cells and characterized by quantitative real-time PCR to detect the α(0)-thalassemia mutation, which was reconfirmed using the droplet digital PCR method. Fifteen at-risk couples were identified. The timing of prenatal diagnosis was appropriate for all couples and four of the fetuses were diagnosed with Bart’s hydrops fetalis. The results were compatible with those calculated using the Hardy-Weinberg equation for a recessively inherited single gene disorder. The conclusion was that the fast-track strategy could shorten screening policy timelines, promoting early risk detection for couples and early prenatal diagnosis. The fast-track strategy might be beneficial for the prevention of hemoglobin Bart’s hydrops fetalis syndrome. 针对 α(0) 地中海贫血（东南亚和泰国类型的贫血）的早期风险检测和产前诊断，我们提出了一种快速跟踪方法：使用定量实时聚合酶链反应 (PCR)，进行直接血液 DNA 分析。血液 DNA 样本取自 1,235 对 ANC 夫妇的志愿者组。使用定量实时 PCR 对其进行评估，以检测 α(0) 地中海贫血（东南亚和泰国类型的贫血）的载体。确定危险群夫妇之后，实施羊膜穿刺术，进行进一步的产前诊断。从羊膜细胞中分离出胎儿 DNA，使用定量实时 PCR 进行特征标度，以检测 α(0) 地中海贫血突变，然后使用液滴数字 PCR 法再次确认。共确定出十五对危险群夫妇。产前诊断这一时机适用于所有夫妇，其中四例胎儿确诊为巴特水肿胎儿。我们使用 Hardy-Weinberg 方程式来计算隐性遗传单基因疾病，结果一致。结论是，此快速跟踪方法可以缩短筛选策略时间表、方便夫妇进行早期风险检测、便于早期产前诊断。此快速跟踪方法或有利于预防血红蛋白巴特水肿胎儿综合征。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2017-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2017.6620","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46231249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fertility assessment in thalassemic men","authors":"S. Ansari, A. Kiumarsi, A. Azarkeivan, Mohammad Mahdi Allameh, Davood Amir kashani, Maryam Razzaghi Azar","doi":"10.4081/thal.2017.6362","DOIUrl":"https://doi.org/10.4081/thal.2017.6362","url":null,"abstract":"Male infertility in β-thalassemia patients is typically considered to be the consequence of iron deposition in the endocrine glands. Adult male patients with β-thalassemia, on regular blood transfusions, are prone to developing acquired hypogonadism. The aim of this study was to evaluate the fertility indicators in male patients with β-thalassemia major and intermedia. In this study we evaluated testicular volume, semen parameters and serum FSH, LH, and Testosterone concentrations in 62 male patients in reproductive age, with major and intermedia thalassemia, at a tertiary care hospital in Tehran, Iran. The range of serum ferritin level in our patients was from 182 to 11053 ng/mL (mean 2067 ng/mL). The mean concentration of sperm was 61.04 million per milliliter. The mean volume of right and left testes was 11.4 cc and 11.7 cc, respectively. Those patients who had lower testicular volumes significantly had lower sperm concentration, lower percents of motile and also lower percents of normal morphologic sperms (P=0.04). The frequency of hypogonadism was significantly higher in patients whose testicular volume was lower (P=0.02). Hypogonadism and hypothyroidism were seen in 22.6% and 17.7% of patients, respectively. Patients with hypogonadism had significantly lower ejaculate volume, lower sperm concentration, lower percents of motile and progressively motile sperms and also lower percents of normal morphologic sperms (P=0.001). This study suggests that in thalassemic men, concentrations of serum testosterone, LH, FSH has significant correlation with sperm parameters and testicular volume. β地中海贫血患者中的男性不育症通常被认为是内分泌腺中铁沉积的结果。成年男性β地中海贫血患者在常规输血时易发生获得性性腺功能减退。本研究旨在评估男性重型和中间型β地中海贫血患者的生育指标。在本研究中，我们在伊朗德黑兰的一家三级保健医院对62名处于生育年龄的男性重型和中间型地中海贫血患者的睾丸体积、精液参数以及血清FSH、LH和睾酮浓度进行了评估。在我们的患者中，血清铁蛋白水平范围是182到11053ng/mL（平均2067ng/mL）。平均精子浓度为每毫升6104万。右侧和左侧睾丸的平均体积分别为11.4cc和11.7cc。睾丸体积较小的患者明显存在精子浓度低、活动精子比例低以及正常形态精子百分比低的情况（P=0.04）。睾丸体积较小的患者性腺机能减退的频率明显更高（P=0.02）。分别在22.6%和17.7%的患者中发现性腺功能减退和甲状腺功能减退。性腺功能减退症患者的射精量、精子浓度、活动精子比例和前向运动精子比例都明显偏低，正常形态精子的比例也存在同样的情况（P=0.001）。本研究表明，在男性地中海贫血患者中，血清睾酮、LH、FSH的浓度与精子参数和睾丸体积有显著的相关性。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"60 3","pages":""},"PeriodicalIF":0.3,"publicationDate":"2017-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2017.6362","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41285367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spectrum of types of thalassemias and hemoglobinopathies: study in a tertiary level children hospital in Bangladesh","authors":"W. Khan, B. Banu, S. Sadiya, G. Sarwardi","doi":"10.4081/THAL.2017.6354","DOIUrl":"https://doi.org/10.4081/THAL.2017.6354","url":null,"abstract":"Thalassemias and hemoglobinopathies are the most common hemolytic congenital disorders in Bangladesh as in many parts of the world. This study was done to find the common types of thalassemias and abnormal hemoglobin variants seen in Bangladeshi populations. A total of 4813 samples were analyzed for hemoglobin disorders out of which 2308 (49.95%) showed abnormalities. The samples were analyzed by Bio Rad D 10 Analyzer in 3914 (81.32%) cases, BIORAD VARIANTβ thalassemia short program using the principle of high performance liquid chromatography in 474 (9.85%) cases and by CAPILLARYS 2 FLEX PIERCING utilizing capillary electrophoresis in 425 (8.83%) cases. The samples were analyzed in the Department of Biochemistry and Molecular Biology of Dhaka Shishu (Children) Hospital, Dhaka, Bangladesh. The common hemoglobin disorders seen were β trait 863 (17.94%), Hb E trait 601 (12.50%), Hb E β thalassemia 524 (10.87%), β thalassemia major 192(4.00 %), Hb E disease 99 (2.05%). Other Hb abnormalities detected were Hb D trait 17 (0.35%), Sickle cell trait 4 (0.08%), hereditary persistence of fetal hemoglobin (HPFH) 2 (0.04%), and Hb Lepore, δ β thalassemia, sickle cell β thalassemia, Sickle cell disease, compound heterozygote for HbE+D and Hb Q band one case each (0.02%). 与世界许多地方一样，地中海和血红蛋白病是孟加拉国最常见的溶血性先天性疾病。本研究的目的是找到孟加拉国人群的常见地中海贫血类型和异常血红蛋白变体。总共对4813例样本进行了血红蛋白疾病分析，其中2308例（49.95%）显示异常。3914例（81.32%）样本使用Bio Rad D 10分析仪分析，由BIORAD VARIANTβ地中海贫血症短期计划使用高效液相色谱法分析了474例（9.85%），由CAPILLARYS 2 FLEX PIERCING使用毛细管电泳分析了425例（8.83%）。样本在孟加拉达卡的达卡生化与分子生物学教研室进行分析。观察到的常见血红蛋白疾病是863例（17.94%）β特征、601例（12.50%）Hb E特征、524例（10.87%）Hb E β地中海贫血、192例（4.00 %）β重型地中海贫血、99例（2.05%）Hb E疾病。检测到的其他Hb异常为17例（0.35%）Hb D特征、4例（0.08%）镰状细胞性状、2例（0.04%）遗传性持续性胎儿血红蛋白综合征（HPFH）以及Hb Lepore δ β地中海贫血、镰状细胞β地中海贫血、镰状细胞病、HbE+D和Hb Q带的复合杂合体各一例（0.02%）。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2017-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2017.6354","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46465294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Granulocyte–colony stimulating factor plus plerixafor in patients with β-thalassemia major results in the effective mobilization of primitive CD34+ cells with specific gene expression profile","authors":"Elena Baiamonte, R. Barone, F. Contino, R. D. Stefano, Anna Marfia, A. Filosa, E. D'Angelo, S. Feo, S. Acuto, A. Maggio","doi":"10.4081/THAL.2017.6392","DOIUrl":"https://doi.org/10.4081/THAL.2017.6392","url":null,"abstract":"Successful gene therapy for β-thalassemia requires optimal numbers of autologous gene-transduced hematopoietic stem and progenitor cells (HSPCs) with high repopulating capacity. Previous studies suggested superior mobilization in these patients by the combination of granulocyte–colony stimulating factor (G-CSF) plus plerixafor over single agents. We mobilized four adult patients using G-CSF+plerixafor to assess the intra-individual variation of the circulating CD34+ cells number and subtypes preand post-plerixafor administration. The procedure was well-tolerated and the target cell dose of ≥8×10 6 CD34+ cells/kg was achieved in three of them with one apheresis procedure. The addition of plerixafor unanimously increased the number of circulating CD34+ cells, and the frequency of the most primitive CD34+ subtypes: CD34+/38- and CD34+/133+/38- as well as the in vitro clonogenic potency. Microarray analyses of CD34+ cells purified from the leukapheresis of one patient mobilized twice, with G-CSF and with G-CSF+plerixafor, highlighted in G-CSF+plerixafor-mobilized CD34+ cells, higher levels of expression genes involved in HSPC motility, homing, and cell cycles. In conclusion, G-CSF+plerixafor in β-thalassemia patients mobilizes optimal numbers of HSPCs with characteristics that suggest high capacity of engraftment after transplantation. β地中海贫血的成功基因治疗需要最佳数量具有较高再生能力的自体基因转导的造血干细胞和祖细胞（HSPC）。之前的研究表明，与单药相比，通过组合粒细胞集落刺激因子（G-CSF）加普乐沙福在这些患者中有出色的动员作用。我们使用G-CSF+普乐沙福对四例成年患者进行了动员，以评估服用普乐沙福之前和之后的循环CD34+细胞数量和亚型的个体内差异。这种方式的耐受性好，其中的三例患者仅通过一次分离技术即获得≥8×106 CD34+细胞/kg的细胞采集目标。加用普乐沙福毫无例外地增加了循环CD34+细胞的数量和最原始CD34+亚型（CD34+/38-和CD34+/133+/38+）的频率以及体外克隆效力。一例血细胞分离术中纯化的CD34+细胞微阵列分析（患者使用G-CSF和G-CSF+普乐沙福动员两次）强调，在G-CSF+普乐沙福动员的CD34+细胞中，有更高水平的表达基因牵涉到HSPC运动性、归巢和细胞周期。总之，G-CSF+普乐沙福在β地中海贫血病患者中可以动员最优数量的HSPC，具有移植后的移植成活率高的特征。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"7 1","pages":"11-17"},"PeriodicalIF":0.3,"publicationDate":"2017-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2017.6392","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49591827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two familial cases of Hb Tyne confirm instability as cause of low expression","authors":"Beverley M. Pullon, S. Brennan","doi":"10.4081/THAL.2017.6504","DOIUrl":"https://doi.org/10.4081/THAL.2017.6504","url":null,"abstract":"We report a second occurrence of hemoglobin (Hb) Tyne, [β5 (A2) Pro>Ser] HBB :c.16C>T(p.Pro6Ser), which like the first case was associated with normal hematology. We verified the variant was mildly unstable by showing it was greatly enriched in isopropanol precipitates. This minor instability accounts for the slightly decreased expression of the new β chain. The variant was picked up as an interfering component on HbA1c testing using cation exchange high performance liquid chromatography (HPLC). However, this may be an advantage in detecting electrophoretically silent variants. Furthermore, this report also highlights the importance of uneven or sloping baselines on HPLC, which could reflect the presence of a variant hemoglobin even in the presence of normal electrophoresis and full blood count. 我们报告了第二例血红蛋白(Hb) Tyne [β5 (A2) Pro>Ser] HBB:c.16C>T(p.Pro6Ser)的出现，其与第一例一样伴随血象正常。我们通过将该变体在异丙醇沉淀物中的显著富集证实了其有轻度不稳定性。这种微小的不稳定性可用来说明新β链表达的轻微下降。该变体在使用阳离子交换高效液相色谱（HPLC）的HbA1c检测中作为干扰成分检出。然而，在检测电泳沉默变体方面这可能使一个优势。此外，本报告还强调了不平或倾斜的基线对HPLC的重要性，这会反映出血红蛋白变异体的存在，即使电泳和全血计数正常。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2017-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2017.6504","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47141932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"No transfusion is the best transfusion: a rare case","authors":"D. Sahoo, Smita Mahapatra, R. Nayak, Debasish Mishra","doi":"10.4081/thal.2017.6174","DOIUrl":"https://doi.org/10.4081/thal.2017.6174","url":null,"abstract":"Presence of antibodies against red cell antigens remains a major problem in thalassemia patients. b-thalassemia major patients do commonly suffer from alloimmunization, which is rarely seen in thalassemia intermedia patients. Association of multiple antibodies and antibody against high frequency blood group antigen further complicates the transfusion therapy. Advance immunohematological tests like adsorption, elution, and phenotyping are necessary along with antibody screening and identification. We present a case about a 25-year male thalassemia intermedia patient, whose blood sample when crossmatched found incompatible with more than 100 units of packed red blood cells. Various tests like direct and indirect antiglobulin (Coombs) tests, 3-cell panel, 4- cell panel, 10-, 11-, 16-cell panels, adsorption, elution, minor phenotyping were done to resolve the case. We found multiple alloantibodies with no autoantibody. The present case emphasizes on importance of minor phenotyping before first transfusion in all multitransfused patients, importance of immunohematological tests in resolving blood incompatibility and our experience of dealing high frequency antigen. 存在红细胞抗原的抗体仍然是地中海贫血患者的主要问题。 β地中海贫血症主要患者通常患有同种异体免疫，这在中间地贫患者中罕见。 针对高频血型抗原的多重抗体和抗体联合进一步使输血治疗复杂化。 推进吸附、洗脱和表型分型等免疫血液学试验发展与抗体筛查和鉴定具有同等必要性。 我们提出一个关于一名约25岁的男性中间型地贫患者的病例，发现其血液样本在交叉配型时与超过100个单位的浓缩红细胞不相容。 直接和间接抗球蛋白（库姆斯）测试、3细胞检测组、4细胞检测组、10细胞检测组、11细胞检测组、16细胞检测组、吸附、洗脱、微细表型分型等各种测试都是为解决这种情况。 我们发现多种同种抗体，没有发现自身抗体。 本病例强调了在所有多次输血的患者首次输血之前进行微细表型分型的重要性，免疫血液学测试在解决血液不相容的重要性以及我们处理高频抗原的经验。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2017-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2017.6174","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44753428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidental detection of a rare hemoglobin variant (Hemoglobin N Seattle) leading to undetectable levels of HbA1c in a diabetic female: a case report","authors":"Sarita Pradhan, Sima Chauhan, P. Samal","doi":"10.4081/THAL.2017.5860","DOIUrl":"https://doi.org/10.4081/THAL.2017.5860","url":null,"abstract":"Glycosylated hemoglobin (GHb) is routinely used to monitor glycemic control over past 2-3 months in diabetics. As per the recommendations of the American Association of Clinical Endocrinologist, 2007 values should be maintained below 7% to prevent the risk of chronic complications. We report a case of a 55-year old female patient with spuriously low HbA1c values by high-performance liquid chromatography. Suspecting the presence of any abnormal hemoglobin, capillary zone electrophoresis was done which identified the presence of Hb variant corresponding to -Hb N Seattle. Our case highlights that clinical laboratories should be aware of limitations of their HbA1c assay methods as well as rule out any possible interfering Hb variants. 糖化血红蛋白(GHB)在糖尿病方面被常规用于监测过去2-3个月血糖控制。 根据美国临床内分泌医师学会2007年的建议，这个值应该被维持在7%以下，以防止慢性并发症的风险。 我们报告了一例55岁女性患者使用高效液体相色谱法测定假性低HbA1c值的病例。 因怀疑存在有某种异常血红蛋白，我们进行了毛细血管区带电泳，识别出存在对应于-Hb N Seattle的Hb变异体。 我们的病例强调了临床实验室应该意识到其HbA1c测定方法的局限性，并排除任何可能引起干扰的Hb变异体。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2017-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2017.5860","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44706224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alpha hemoglobinophaties in Rosario, Argentina","authors":"M. Ojeda, S. Pérez, A. Pratti, K. Calvo, M. Raviola, M. Voss, G. M. Williams, N. Noguera, María Magdalena Carbonell, M. Aixalá, I. Bragós","doi":"10.4081/THAL.2017.5655","DOIUrl":"https://doi.org/10.4081/THAL.2017.5655","url":null,"abstract":"Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of β -thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated for alpha hemoglobinopathies because of low MCV (15%. Six of them with a clinical phenotype of thalassemia intermedia were diagnosed as Hb H disease (five cases) and Hb H like (one case). It also included one patient with sickle cell trait, confirmed by hematological and molecular studies. We were able to identify alpha globin genes mutations in 92 individuals (87.6%): 88 patients with alpha thalassemia, 3 patients with structural alterations and one with both. In total, 13 individuals (12.4%) had no identified α-globin mutation. This study is the first to deal with the molecular basis of α-hemoglobinophaties in Rosario. 血红蛋白病是全世界最常见的隐性疾病。 尽管我们已对罗萨里奥β地中海贫血的分子基础作出阐述，但是α地中海贫血和α结构性变化的分子基础尚未得到阐明。 在本研究中，105例来自不同家庭转诊至我中心的个体因MCV低(15%而接受了α血红蛋白病调查。 他们中具有中间型地中海贫血临床表型的六例被诊断为Hb H病（五例）和Hb H样（一例）。 其中还包括一例通过血液学和分子研究证实具有镰状细胞特征的患者 。 我们能够在92例个体(87.6%)中识别出α珠蛋白基因突变：88例有α地中海贫血 ，3例有结构性变化，还有一例两者均有。 总计13例个体(12.4%)未被识别出有α珠蛋白突变。 本研究是第一项针对罗萨里奥α地中海贫血分子基础的研究。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"7 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2016-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2017.5655","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hb I-Toulouse in association with homozygosity for the α3.7 deletion in a Pacific Island woman","authors":"Beverley M. Pullon","doi":"10.4081/THAL.2016.6044","DOIUrl":"https://doi.org/10.4081/THAL.2016.6044","url":null,"abstract":"Only four cases of Hb I-Toulouse have been reported to date. Current literature associates Hb I-Toulouse in the heterozygote with a mild chronic hemolytic anemia. The variant is mildly unstable with a tendency to form metHb. The quantity of the variant in heterozygotes has been reported as varying between 33 to 40%. This report confirms the finding from a single case, that a reduced percentage of Hb IToulouse along with microcytosis can be attributed to the co-inheritance of an abnormal α globin genotype. This current case was found in a woman of Pacific People ethnicity residing in New Zealand. There is a high prevalence of α thalassemia in this ethnic group and New Zealand has the highest Pacific population in the world. Therefore, if a reduced percentage of Hb I-Toulouse is found with microcytosis and normal iron studies, co-inheritance with α thalassemia should be considered. 目前仅有四例Hb I-Toulouse的病例报告。 当前的文献将杂合子中的Hb I-Toulouse与慢性溶血性贫血相关联。 这种变异体轻度不稳定，有形成高铁血红蛋白（metHb）的倾向。 杂合子中变异体数量据报道为33%至40%不等。 本报告证实从单一病例得到的结果，即伴有小红细胞症的更低Hb I-Toulouse百分比可被归结为异常α球蛋白基因型的合并遗传。 该例当前病例在一名居住在新西兰的太平洋诸岛族裔女性身上发现。 在这个族群中存在较高的α地中海贫血患病率，而在全世界新西兰的太平洋诸岛族裔人口最多。 因此，如果发现Hb I-Toulouse的百分比更低，同时伴有小红细胞症并且检查铁含量正常，则应考虑α地中海贫血的合并遗传。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"6 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2016-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2016.6044","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Carotid intima-media thickness and oxidative stress markers for assessment of atherosclerosis in children with β thalassemia major","authors":"Geetanjali Jindal, Prashant Chavan, R. Kaur, S. Jaswal, K. Singhal, A. Palta, V. Guglani","doi":"10.4081/THAL.2016.4939","DOIUrl":"https://doi.org/10.4081/THAL.2016.4939","url":null,"abstract":"The present study evaluates carotid intimamedia thickness (CIMT) in children with β thalassemia major to assess atherosclerosis and its relation to the underlying proposed causative mechanisms via lipid peroxidation product malondialdehyde (MDA), oxidized lowdensity lipoproteins (LDL), total antioxidant level, and lipid profile. A cross sectional study was conducted on 62 children (31 cases and 31 controls). CIMT by high resolution ultrasound and biochemical parameters i.e. , total cholesterol, triglycerides, high-density lipoproteins, LDL, Oxidized LDL, lipoprotein (a), lipid peroxidation product MDA and total antioxidant were measured in enrolled subjects and compared. In our study, CIMT was significantly increased in β thalassemia major patients’ as compared to healthy controls. Mean CIMT in cases was 0.69±0.11 mm and in controls 0.51±0.07 mm. Mean oxidized LDL (EU/mL) in cases 39.3±34.4 (range 14.4 to 160) was significantly raised (P=0.02, t test) as compared to controls 23.9±13.4 (range 12 to 70). In our study we found MDA levels (nmol/mL) to be increased in β thalassemia patients as compared to controls. Mean MDA was 10.0±3.27 (4.41 to 17.48) in cases while in controls was 6.87±4.55 (1.5 to 17.9). Our study results show CIMT as an early marker of atherogenesis in β thalassemia major. Oxidative stress markers are also increased in β thalassemia major patients and lipoprotein (a) shows a positive correlation with CIMT. The present study points towards various atherogenetic mechanisms in β thalassemia major. 本研究评价β重型地中海贫血患儿颈动脉内膜中层厚度（CIMT），以评估动脉粥样硬化，以及与潜在通过血脂过氧化反应产物丙二醛（MDA）、氧化低密度脂蛋白（LDL）、总抗氧化水平和血脂谱所提出致病机制之间的关系。 在62名儿童（31例病例和31例对照）中进行了一项横断面研究。 在入组受试者中通过高分辨率超声和生化指标（即总胆固醇、甘油三酯、高密度脂蛋白、LDL、氧化LDL，脂蛋白（a）、血脂过氧化产物MDA和总抗氧化剂）测量CIMT并进行比较。 在我们的研究中，CIMT在β重型地中海贫血患者中比健康对照组显著增加。 病例组中的平均CIMT为0.69±0.11 mm，对照组0.51±0.07 mm。病例组中平均氧化LDL（EU/mL）为39.3±34.4（从14.4到160的范围）与对照组的23.9±13.4（12至70的范围）相比显著升高（P = 0.02，t检验）。 在我们的研究中，我们发现β地中海贫血患者中的MDA水平（nmol/mL）比对照组更高。 病例组中的平均MDA为10.0±3.27（4.41至17.48），而对照组为6.87±4.55（1.5到17.9）。 我们的研究结果表明，CIMT是β重型地中海贫血动脉粥样硬化的早期标记物。 氧化应激标记物在β重型地中海贫血患者中也有增加，脂蛋白（a）显示出与CIMT呈正相关。 本研究针对β重型地中海贫血中的各种动脉粥样硬化机制。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"6 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2016-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2016.4939","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}