Thalassemia Reports最新文献

{"title":"Red cell cytogram in CELL-DYN® Sapphire: a ready-to-use function for recognizing thalassemia trait","authors":"E. Urrechaga, O. Boveda, J. Hoffmann","doi":"10.4081/THAL.2016.5260","DOIUrl":"https://doi.org/10.4081/THAL.2016.5260","url":null,"abstract":"Single-cell optical analysis of red blood cells provides information on the cellular hemoglobin concentration and volume of red cells. We evaluated the reliability of the typical profiles of the cytogram hemoglobin concentration/ volume (Mie Map), produced by the CELL-DYN ® Sapphire analyzer (Abbott Diagnostics, Santa Clara, CA, USA) in the discrimination of iron deficiency anemia (IDA) and thalassemia trait. A total of 380 patients with microcytic anemia were studied: 220 with IDA, 101 β-thalassemia trait, 30 β-thalassemia trait with concomitant iron deficiency, 29 α-thalassemia trait. Three professionals reviewed the Mie maps, with no information regarding the disease of the patient. The observers made a presumptive diagnosis (genetic or acquired anemia) and the percentages of correct classifications were recorded. IDA showed broad shaped shift of the cytogram while carriers presented narrow clustering in the lower microcytic area: 100 % IDA were correctly classified and 96-82% of carriers were recognized. Visual inspection of the Mie map reveals different profiles in IDA and thalassemia trait; those patterns are in concordance with the numerical data Mie map helps in the evaluation of large amounts of data. 红细胞单细胞光学分析提供了关于细胞血红蛋白浓度及红细胞体积的信息。 我们评价了典型的细胞图血红蛋白浓度/体积分布（Mie Map）在缺铁性贫血（IDA）和地中海贫血特征的识别方面的可靠性，分布曲线由CELL-DYN® Sapphire分析仪（Abbott Diagnostics, Santa Clara, CA, USA）生成。 一共对380例小细胞性贫血进行了研究：220例患有IDA，101例β有地中海贫血特征，30例β有地中海贫血特征合并缺铁性，29 α例地中海贫血特征。 由三名专业人员在没有任何患者病情信息的情况下进行Mie map读图。 读图者作出初步诊断（遗传性或获得性贫血），记录正确分类的百分比。 IDA表现出细胞图较宽发散形状的偏移，而基因携带者在更低的小细胞区域呈现较窄的聚集：100%的IDA被正确分类，96-82%的基因携带者得到确认。 Mie map的目测检查揭示了IDA和地中海贫血特征方面不同的分布；这些模式与数值数据相一致。Mie map有助于大量数据的评估。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"6 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2016-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2016.5260","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310713","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":"The whys of patient centered care","authors":"M. Dehshal","doi":"10.4081/THAL.2015.5473","DOIUrl":"https://doi.org/10.4081/THAL.2015.5473","url":null,"abstract":"My late grandfather kept telling me tales about the influential status of Iranian practitioners (called Hakim) at old times in the lives of the old generations. The tales all purport to the high rank and privilege granted to the practitioners in past as the absolute authority of the community’s health who dictated what responsibilities people should take for their health to be ensured. The obsequiousness to the prescription of hakim seemed to be the only guarantee for patients’ health and no one but the hakim was entitled the right to talk about the treatment. Still such a physiciandominated procedure called medicalization1 is the dominant trend in the health management of the human societies. The question is however if this sort of management can be pursued effectively in the modern era. Max Weber considers all bureaucratic organizations tended towards the routine decision makings.2 Jurgen Habermas updated Weber’s theory in the field of juridical systems and made the new word of jurification by which many juridical organizations follow unconditionally the canon law and the predetermined legal trends and the precedence with the consequence of distancing ever before from the general concept of justice.3 Herman Melville the famous American author has depicted this gap between the practical law enforcement and justice in his well-known book of Billy Budd. The time Captain Vere despite his personal belief condemned Billy to death sentence just based on the letter of the mutiny act the gap between the law adherence and enforcement with that of justice came to light.4 The term medification in the health system is equivalent to jurification in the judicial systems.1 There are many different reasons for this phenomenon including the tendency of physicians to follow older practices or the pressure imposed by the health decision makers for lower health costs.1 Generally the societies show resistance against change and physicians are no exception. Most frequently the physicians pursue the routine old practice citing the evidence that they are more effective with no necessity for the change in the treatment protocols.5 I have had so many observations that the physicians for managing thalassemics have emphasized on the constant 8h-long infusion and refused to use the new oral administration. The engagement of the health decision makers in the disease management and formulation of the therapy protocols encloses care givers within the scope of the routine protocols. Under such circumstances, it is almost impossible to think of change based on the patients’ demand. Physicians’ orientation towards routine practices and protocols can be even communicated to patients. The stronger physicianpatient affinity cause of the long term treatment requirement and the transmission of the former’s inclination decrease the latter’s tendency towards any changes in the treatment protocols. This is much evident at the later decades of life of the patients with hereditary diseases","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"5 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2015-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2015.5473","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310905","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":"Prevalence of hemolytic anemia and hemoglobinopathies among the pregnant women attending a tertiary hospital in central India","authors":"R. S. Balgir","doi":"10.4081/THAL.2015.4644","DOIUrl":"https://doi.org/10.4081/THAL.2015.4644","url":null,"abstract":"Anemia in pregnancy is one of the causes of maternal morbidity and, maternal and fetal mortality in India. Hemoglobin transports oxygen to different parts of the body. Any defect in hemoglobin structure leads to its adverse functions. Screening of pregnant women for hemoglobinopahties helps in early intervention for reducing morbidity and mortality. Although the prevalence of hemoglobinopathies especially of the sickle cell disorders is high in Madhya Pradesh but any study on pregnant women is lacking. This study had set the objectives to find the prevalence of anemia and hemoglobin disorders in pregnant women, and to determine the health status through hematological indices profile in central India. Hospital based a cross-sectional study showed 12.26% prevalence of hemoglobinopathies among 416 pregnant women, the sickle cell trait being 7.45%, followed by β-thalassemia trait (2.89%), hemoglobin E trait (0.24%), and sickle cell disease (1.68%). About 88% of the pregnant women were found free of hemoglobinopathies. Of the 9.13% pregnant women included in the study were suffering from sickle cell disorders. However, the overall 47.11% anemia was observed in pregnant women, ranging in between 45% to 66% and seemed to show a reduction in anemia after nutritional supplementations and improvement in maternal health care at antenatal check up due to accessibility to medical health facilities. A comparison of hematological indices of pregnant women afflicted with and without sickle cell disorders have revealed much reduced hemoglobin level, red blood cells count, mean corpuscular volume, hematocrit, and mean corpuscular hemoglobin; and raised leucocytosis in sickle cell disorder cases than among the normal pregnant women. A more vigorous and realistic campaign of prophylactic regime of supplementations for these pregnant women and child health care is suggested. 妊娠期贫血是印度产妇母体发病率以及母婴死亡率的原因之一。 血红蛋白将氧输送到身体的不同部位。 血红蛋白结构的任何缺陷都导致其功能不良。 孕妇的血红蛋白病筛查有助于早期干预，降低发病率和死亡率。 虽然血红蛋白病特别是镰状细胞病的患病率在中央邦较高，但对孕妇的任何研究都很缺乏。 本研究将目标设为找出孕妇贫血和血红蛋白病患病率，并通过印度中部的血液指标情况来确定健康状况。 医院基于一项横断面研究显示了416名孕妇中12.26%的血红蛋白病患病率，镰状细胞特征为7.45%，接下来是β地中海贫血特征（2.89%）、血红蛋白E特征（0.24%）和镰状细胞病（1.68%）。 约88%的孕妇被发现未患血红蛋白病。 纳入研究的孕妇有9.13%患有镰状细胞病。 然而，在孕妇中观察到总体47.11%的贫血，范围从45%到66%之间，在营养补充以及由于医疗卫生设施可及性原因在产前检查时孕妇健康护理改善后，看来显示出贫血的减少。 对患有或未患镰状细胞病的孕妇血液学指数的比较揭示出，镰状细胞症病的病例与正常孕妇相比血红蛋白水平、红细胞计数、平均红细胞容积、血细胞比容和平均红细胞血红蛋白有很大降低，以及有白细胞的增多。 建议对于这些孕妇和儿童的卫生护理的预防性补充方案采取更积极并且更切实际的活动。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"5 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2015-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2015.4644","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310100","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":"Haplotypes, sub-haplotypes and geographical distribution in Omani patients with sickle cell disease","authors":"S. Hassan, M. A. Muslahi, M. A. Riyami, Abeer Al Balushi, E. Bakker, C. Harteveld, P. Giordano","doi":"10.4081/THAL.2015.4739","DOIUrl":"https://doi.org/10.4081/THAL.2015.4739","url":null,"abstract":"Despite the fact that patients homozygous for the sickle cell disease (SCD) mutation have an identical genotype, the severity of the disease can be extremely variable. The hemoglobin (Hb) S mutation has been described on five different haplotypes with different clinical expression. Identifying the genotypes, haplotypes and sub-haplotypes of the β gene cluster in Oman needs to be studied in more details to establish a correlation between the genotype/haplotype and phenotype diversity observed in SCD patients for prognostic purposes, accurate diagnosis and thus planning for the best tailored treatment. We have investigated 125 HbS homozygotes from different parts of Oman and determined their haplotypes and sub-haplotypes and correlated this to the hematological and clinical expression. We have found 11 haplotype combinations differently distributed in the country, with the Asian/Asian HbS haplotype being the most predominant. Sub-haplotypes was only found among patients with CAR/OmanI haplotype. As expected, the correlation between haplotypes, sub-haplotypes and disease severity was mainly associated with HbF expression. Our study on haplotype/phenotype correlation has shown which major haplotypes occur in the different regions of Oman. Furthermore, neither the haplotype or sub-haplotype nor the HbF alone appeared to be fully associable with the variable clinical phenotypes. External factors do occur and are associated with the expression of the disease. 尽管镰状细胞突变病（SCD）患者拥有相同的基因类型，但患者的病患程度却大相径庭。血红蛋白（Hb）S突变有五种不同的单体型，各种类型在临床表现上也不相同。为了识别在阿曼地区β基因簇的基因型、单体型，亚单体型，需要研究更多以SCD患者预后为目的，关于其观察到的基因型、单体型，表型多样性之间联系的更多细节，以便作出准确的诊断，为各个患者量身制定治疗方案。我们研究了125个来自阿曼不同地区的HbS纯合体，并确认了它们的单体型和亚单体型血液学上的临床表现。我们已找到了该国家11个单体型组合的不同分布，其中以亚洲/亚洲HbS单体型为主要类型。亚单体型只在CAR/OMANI单体型患者中被发现。正如之前所料，单体型、亚单体型和病患程度之间的联系主要与HbF表现相关。我们关于单体型和亚单体型之间联系的研究显示出了阿曼地区最为主要的单体类型。此外，无论是单体型、亚单体型还是HbF，都被证明与该疾病不同的临床表现没有紧密的联系。外部因素是该疾病不同表现的致因。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"122 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2015-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2015.4739","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310172","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":"Screening of β-thalassemia trait among pregnant women with NESTROFT","authors":"Hitesh Sarda, S. Niveditha, Nirmala Shivlingaiah","doi":"10.4081/THAL.2015.4430","DOIUrl":"https://doi.org/10.4081/THAL.2015.4430","url":null,"abstract":"The morbidity of β-thalassemia major has forced medical professionals to formulate screening tests to effectively screen β-thalassemia trait (BTT) of which naked eye single tube osmotic fragility test (NESTROFT) is the most cost effective test. Optimal time to screen for BTT appears to be during pregnancy, as at risk couples can be offered prenatal diagnosis. We screened 55 pregnant women attending antenatal clinic in a medical college hospital at Bangalore, with NESTROFT. Twelve (21.89%) were NESTROFT positive with mean hemoglobin of 11.2 mg % and packed cell volume of 32.6%. Catering predominantly to Vokkaliga community in whom literature reports increased prevalence of BTT, addition of a cost effective test like NESTROFT in the antenatal panel, appears promising.   β地中海贫血症的流行已迫使医护人员制定更有效的屏幕筛查方法（BTT），其中红细胞渗透脆性肉眼一管法（NESTROFT)是成本较低的，亦最为有效的筛查方法。最佳的BTT筛查时间是怀孕期，可以为风险夫妇提供产前诊断。我们在班加罗尔医学院产前诊所对55名怀孕女性进行了红细胞渗透脆性肉眼一管法（NESTROFT）筛查。她们中的12位（21.89%）呈NESTROFT阳性,平均血红蛋白值11.2mg、细胞体积32.6%.在Vokkaliga地区发现了有关β地中海贫血症病例的增加，也许，成本低的、亦高效的红细胞渗透脆性肉眼一管法（NESTROFT）能为这一地区的产前筛查带来帮助。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"5 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2015-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2015.4430","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310404","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":"Hemoglobin SE disease in Hatay, in the southern part of Turkey","authors":"C. Acıpayam, G. Oktay, G. Ilhan, M. A. Çürük","doi":"10.4081/THAL.2015.4597","DOIUrl":"https://doi.org/10.4081/THAL.2015.4597","url":null,"abstract":"Double heterozygosity for hemoglobin (Hb) E and S, known as HbSE disease, is a rare, clinically benign condition involving mild hemolysis. Only 25 cases have been reported to date. The current literature generally associates HbSE with a benign clinical course, although vaso-occlusive complications have been reported. Although only single case reports were previously available, we have observed 20 cases of HbSE and wish to report them. We examined the records of patients presenting to our hemoglobinopathy center in 2001-2013. High performance liquid chromatography (HPLC) was used for hematological assessment of blood samples with ethylenediaminetetraacetic acid. Eight patients were male and 12 female. Mean hemoglobin electrophoresis values were Hb A1: 6.3%, Hb E 34.5%, HbS: 59.5% and Hb F: 1.9%. Three patients (15%) were symptomatic with vaso-occlusive crisis and one had cerebral stroke. These were siblings. The patient with cerebral stroke was using hydroxyurea. The incidence of HbSE disease is rising due to population admixtures and racial intermarriages. Increased numbers of cases of HbSE have been detected after premarital hemoglobinopathy screening in the Antakya and Cukurova regions of Turkey. The aim of this study was to report large numbers of patients with HbSE diagnosed through the routine HPLC method. The secondary aim was to emphasize that severe vaso-occlusive crisis such as infarction symptoms could be seen in HbSE.   E，S型双杂合性血红蛋白，被称为HbSE症，是一种罕见的，临床上呈良性的病症，通常伴有轻度溶血症状。迄今为止只有25个关于此病症的报告。当前通常把HbSE症是作为一种良性病患，尽管已有报告显示出其梗塞并发症的存在。虽然只有极少的相关报告，我们仍研究了20个HbSE病例，并希望能陈述我们的发现。 我们检查了2001-2013年患者在我们血红蛋白病中心提交的检测记录。高效液相色谱法（HPLC）及乙二胺四乙酸被采用以评估收集到的血液样本。患者为8名男性，12名女性。他们的平均血红蛋白电泳值分别为Hb A1: 6.3%、Hb E:34.5%、Hb S:59.5%,Hb F:1.9%。其中3位（15%）患者患有梗塞的并发症，一位患有脑卒中。这三名患者是兄弟姐妹。患有脑卒中的患者当时使用过羟基脲。HbSE症发病率的上升是由于人口及人种间的混血。在土耳其Antakya 和Cukurova 地区的婚前血红蛋白病的筛查中，发现了HbSE症病例的增加。该研究的目的是报告大量通过高效液相色谱法诊断的HbSE症病例。次要目的是强调例如梗塞的严重并发症会由HbSE症引发。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"5 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2015-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2015.4597","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310441","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":"Economic Recession and Health","authors":"E. Theocharous","doi":"10.4081/THAL.2014.4867","DOIUrl":"https://doi.org/10.4081/THAL.2014.4867","url":null,"abstract":"The economic crisis, which struck in Europe since 2008, has raised concerns about the health of the less privileged, vulnerable and poor people of the continent - the ordinary people of Europe. There is currently sufficient evidence for the negative and, in certain countries, devastating effects of austerity policies on the financing of health and other services of general interest, essential to promote the proper functioning of our economies and the cohesion of our societies. This evidence proves that health and social services are seriously impaired.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2014-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2014.4867","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70309569","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":"Quality of Life of Patients with Haemoglobinopathies in Periods of Economic Austerity","authors":"M. Tsironi","doi":"10.4081/thal.2014.4881","DOIUrl":"https://doi.org/10.4081/thal.2014.4881","url":null,"abstract":"The concept of quality of life (QoL) encompasses a broad spectrum of meaning that is variously influenced by individual, natural and psychological conditions [...]","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2014-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2014.4881","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310298","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":"ENERCA: e-Learning Platform","authors":"P. Aguilar-Martinez","doi":"10.4081/thal.2014.4880","DOIUrl":"https://doi.org/10.4081/thal.2014.4880","url":null,"abstract":"ENERCA (the European Network for Rare and Congenital Anemias) is a European Commission funded project since 2002 [...]","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2014-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2014.4880","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310426","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":"Sickle Cell Disease Complications","authors":"E. Voskaridou","doi":"10.4081/THAL.2014.4873","DOIUrl":"https://doi.org/10.4081/THAL.2014.4873","url":null,"abstract":"Sickle cell disease (SCD) is an inherited, lifelong condition. The sickle mutation consists a single nucleotide change (GAT->GTT) in the sixth codon of exon 1 of the β-globin gene coding for the β-globin polypeptide of hemoglobin (Hb) (a2β2). This change results in replacement of the wild type glutamic acid residue by a valine residue in β-globin chain and the formation of the sickle Hb (HbS) in homozygotes for this mutation. Heterozygotes live a normal life. In SCD patients, sickle erythrocytes are rigid with decreased deformability and reduced life span resulting in hemolysis, vaso-occlusive disease, vasculopathy and subsequent inflammation and end organ damage. Sickle cell disease affects millions of people worldwide. Today, with proper health care, many SCD patients have a good quality of life (QoL) and are in fairly good health most of the time. These people can live up to their forties or fifties, or longer. Despite the ‘common’ underlying genetic basis and a similar pathophysiology, patients with SCD present a highly variable clinical phenotype due to Single Nucleotide Polymorphisms (SNPs) variability throughout the genome. Patients with SCD are at high risk for developing multisystem acute and chronic complications associated with significant morbidity and mortality.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2014-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2014.4873","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70309844","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}