解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::We describe a high oxygen affinity hemoglobin (Hb) variant (Hb Vanderbilt) as a result of a heterozygous novel base change from T to A at codon 89 (AGT>AGA) leading to an amino acid change from serine to arginine. ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2011.594137
更新日期:2011-01-01 00:00:00
abstract::Thalassemia is the most common genetic disorder in Iran. Some α-globin genotypes leading to Hb H disease may cause severe anemia and dependence on regular blood transfusions. In this study, 40 patients were analyzed for the molecular basis and the genotype-phenotype correlation of Hb H disease in Iran. α-Globin molecu...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2010.546314
更新日期:2011-01-01 00:00:00
abstract::The human fetal globin genes are highly similar at the DNA sequence level, resulting in a single amino acid difference between the (G)γ- and (A)γ-globin chains. A large proportion of hemoglobin (Hb) variants of the (G)γ- and (A)γ-globin chains result from an identical mutation in the HBG2 and HBG1 genes, respectively,...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2011.553019
更新日期:2011-01-01 00:00:00
abstract::New gold standard protocols are tested for the complete removal of iron overload in thalassemia using the International Committee on Chelation (ICOC) Maintaining Normal Body Iron combination protocol therapy of deferiprone (L1)/deferoxamine (DFO) and maintenance of normal range body iron store levels (NRBISL) using L1...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2010.485890
更新日期:2010-06-01 00:00:00
abstract::Good adherence to iron chelation therapy in thalassemia is crucial. Although there is evidence that adherence is related to regimen factors, there has been less emphasis on the relationship between psychosocial (psychological, demographic and social) factors and adherence. We present a systematic review of psychosocia...
journal_title:Hemoglobin
pub_type: 杂志文章,meta分析,评审
doi:10.3109/03630269.2010.485080
更新日期:2010-06-01 00:00:00
abstract::Hb D-Punjab [β121(GH4)Glu→Gln] is prevalent in the northern states of the Indian subcontinent. Due to inadequate data from Asian countries, the origin and spread of the Hb D-Punjab mutation are uncertain. In a study of sickle cell hemoglobinopathies, we detected the Hb D-Punjab mutation in 25 subjects from 11 unrelate...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/01676830.2010.525900
更新日期:2010-01-01 00:00:00
abstract::In this study we present the first report of the detection of a new β-thalassemia (β-thal) mutation at codon 36 (-C) in the Chinese population. This frameshift mutation generates a TGA stop codon at position 60, resulting in a thalassemia phenotype. This is the first example of a premature stop codon at position 60 be...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2010.526841
更新日期:2010-01-01 00:00:00
abstract::We report a case of a 43-year-old woman, affected by human immunodeficiency virus (HIV) and beta-thalassemia major (beta-TM), adequately treated with antiretroviral and transfusion-chelation therapy, that develops progressive right ventricular dysfunction due to severe pulmonary arterial hypertension (PAH), in absence...
journal_title:Hemoglobin
pub_type: 杂志文章,评审
doi:10.3109/03630260903547765
更新日期:2010-01-01 00:00:00
abstract::We studied the structural environment surrounding the beta-N-terminal glycation site of a hemoglobin (Hb) molecule in which the proline residue at beta5(A2) was substituted by alanine in silico. By computer analysis that used Protein Data Bank data (PDB ID: 1BZ0), we tried to clarify the reason for impaired glycation ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630261003676785
更新日期:2010-01-01 00:00:00
abstract::β-Thalassemia (β-thal) is characterized by reduction or absence of β-globin gene expression. We describe the spectrum of mutations observed in a large cohort of β-thal carriers in Khuzestan, Southwest Iran. All together 1,241 blood samples from individuals with decreased mean corpuscular volume (MCV) and elevated Hb A...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2010.514153
更新日期:2010-01-01 00:00:00
abstract::The problem of spinal cord compression (SCC) related to extramedullary hematopoiesis (EMH) in beta-thalassemia (beta-thal) patients, both clinically and radiologically and its correlation with laboratory parameters of anemia and hemosiderosis was assessed. Sixty beta-thal patients were included and divided into group ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630260903337451
更新日期:2009-01-01 00:00:00
abstract::We report the identification of two different mutations involving the first nucleotide of intron 1 of the alpha2-globin gene: IVS-I-1 G-->A and G-->T. The available data indicated that both mutations reduce the efficiency of proper mRNA splicing, resulting in alpha(+)-thalassemia (alpha(+)-thal). ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630260903333377
更新日期:2009-01-01 00:00:00
abstract::Our understanding of the molecular and pathophysiological mechanisms underlying the disease process in patients with thalassemia intermedia (TI) has substantially increased over the past decade. TI encompasses a wide clinical spectrum of beta-thalassemia phenotypes. Some TI patients are asymptomatic until adult life, ...
journal_title:Hemoglobin
pub_type: 杂志文章,评审
doi:10.3109/03630260903351528
更新日期:2009-01-01 00:00:00
abstract::Guidelines for minimizing risks from alloimmunization, other transfusion reactions, and infection risks are presented based on the Thalassemia International Federation (TIF) guidelines. Future developments including pretreatment of the red cell product that may reduce infection risks are discussed. The rationale for g...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630260903346593
更新日期:2009-01-01 00:00:00
abstract::Hemoglobin (Hb) disorders are common, potentially lethal monogenic diseases, posing a global health challenge. With worldwide migration and intermixing of carriers, demanding flexible health planning and patient care, hemoglobinopathies may serve as a paradigm for the use of electronic infrastructure tools in the coll...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260903089177
更新日期:2009-01-01 00:00:00
abstract::To study effects of ionizing radiation on apoptosis induction in leukocytes of alpha-thalassemia (alpha-thal) variants compared to normal controls, venous blood samples were obtained from 10 healthy volunteers and 30 alpha-thal patients. Different types alpha-thal were diagnosed by multiplex polymerase chain reaction ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260903039586
更新日期:2009-01-01 00:00:00
abstract::Oxidative stress is considered to be the main cause for several chronic diseases including diabetes. Through hyperglycemia, hyperlipidemia, hypertension and possible iron dyshomeostasis, diabetes induces oxidative stress that causes damage to multiple organs, leading to various complications. Therefore, antioxidant th...
journal_title:Hemoglobin
pub_type: 杂志文章,评审
doi:10.3109/03630260903212175
更新日期:2009-01-01 00:00:00
abstract::This study concerns the molecular characterization of beta-thalassemia (beta-thal) alleles in 210 chromosomes. In the studied population, mutations were detected in 98% of the beta-thalassemic chromosomes. Twenty-one molecular defects have been found, where the five dominant mutations, IVS-I-110 (G>A), nonsense mutati...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260802626061
更新日期:2009-01-01 00:00:00
abstract::A new beta-hemoglobin (Hb) variant, Hb Stockholm [beta7(A4)GluAsp], is described. The variant was characterized by mass spectrometry and DNA sequencing. The new variant is clinically silent but interferes with Hb A(1c) quantification using ion exchange chromatography, causing a falsely low Hb A(1c) level when using th...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260902861956
更新日期:2009-01-01 00:00:00
abstract::Chronic blood transfusions are necessary for patients with hereditary anemia such as thalassemia, and for patients with myelodysplastic syndrome (MDS) who become anemic and transfusion-dependent. A common consequence of chronic transfusion is iron accumulation that can lead to organ damage. While there is general agre...
journal_title:Hemoglobin
pub_type: 杂志文章,评审
doi:10.3109/03630260903212654
更新日期:2009-01-01 00:00:00
abstract::The 5' untranslated region (5'UTR) of beta-globin has been well characterized and is often used as a model for eukaryotic transcription/translation, but there are still questions regarding the mechanism of translational control. Mutations affecting the Cap site at + 1 and at positions +10, +22, +33 and +40-43 have bee...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260701798375
更新日期:2008-01-01 00:00:00
abstract::We describe a Chinese patient who was heterozygous for both Hb Q-Thailand [alpha74(EF3)Asp-->His] and Hb E [beta26(B7)Gly-->Asp, GAG-->GTG]. Interaction of the alpha(Q-Thailand) and beta(E) chains leads to a hemoglobin (Hb) variant, namely Hb QE, which differs in electrophoretic mobility and high performance liquid ch...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260802004483
更新日期:2008-01-01 00:00:00
abstract::Without gel electrophoresis and specific probes, the two tubes real-time SYBR-polymerase chain reaction (SYBR-PCR) was setup by using different primer sets: P1/P2 for the detection of wild type alpha-globin gene alleles and P1/P3 for detection of the allele bearing the Southeast Asian (SEA) type (--SEA) deletion. Anal...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260701798367
更新日期:2008-01-01 00:00:00
abstract::Hb Constant Spring (Hb CS), the gene (alpha(CS)) of which arises from a point mutation in the termination codon of the alpha2-globin gene, is the most prevalent variety of nondeletional alpha-thalassemia (alpha-thal) in Asian populations. It is a major cause of Hb H disease in compound heterozygotes who have Hb CS com...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260802341588
更新日期:2008-01-01 00:00:00
abstract::Raised Hb F is occasionally found in stress erythropoiesis associated with hemolytic anemias. In hereditary spherocytosis (HS), elevation of Hb F by 2-5% may be seen but Hb F in the range of 10-20% has not been reported. We present an interesting case of a child, initially presenting with high Hb F, who showed a spont...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260802341976
更新日期:2008-01-01 00:00:00
abstract::Genetic screening is an important tool to control, minimize, and prevent genetic disorders. Saudi Arabia started the first national premarital screening (PMS) program to control inherited hemoglobin (Hb) disorders that are the most commonly inherited genetic disorders in the Kingdom of Saudi Arabia. The aim of this st...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260802508384
更新日期:2008-01-01 00:00:00
abstract::The benefits of combined deferoxamine (DFO) and deferiprone (L1) chelation therapy, focusing on reducing myocardial iron loading, have been widely reported. Herein, we present the efficacy of combined chelation and its effects on iron load indices. Five thalassemia major (TM) patients who were undergoing chelation mon...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260701680474
更新日期:2008-01-01 00:00:00
abstract::Epidemiological studies and experimental data suggest iron involvement in atherosclerosis. The relation between iron and atherosclerosis is complex and remains contradictory. In thalassemia patients, non transferrin bound iron (NTBI) and free hemoglobin (Hb) are present in plasma and may accelerate atherogenesis, but ...
journal_title:Hemoglobin
pub_type: 杂志文章,评审
doi:10.1080/03630260701726871
更新日期:2008-01-01 00:00:00
abstract::Individual genetic constitution is an important cause of variations in the response and tolerance to drug treatment. Single nucleotide polymorphisms (SNPs) in genes located within as well as outside the human beta-globin cluster have recently been shown to be significantly associated with Hb F increase in relation to ...
journal_title:Hemoglobin
pub_type: 杂志文章,评审
doi:10.1080/03630260701680367
更新日期:2008-01-01 00:00:00
abstract::Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] has been reported in heterozygotes of Moroccan origin and also in association with the common -alpha(3.7) deletion. In all cases, the mutated protein was not detectable but was apparently associated with a mild alpha-thalassemia (thal) phenotype, presumably du...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260701289490
更新日期:2007-01-01 00:00:00
abstract::In this study, 32 patients with Hb H (beta(4)) disease have been identified. Three different alpha-thalassemia-1 (thal) determinants; nine with the -17.4 kb (MED I) type, 12 with the -20.5 kb type and 10 with the -26.5 kb (MED II) type were characterized. Of the 32 patients, 19 had the 3.7 kb deletion and one had the ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260701297279
更新日期:2007-01-01 00:00:00
abstract::This paper summarizes the results on the epidemiology and molecular basis of thalassemias and other hemoglobinopathies in the Republic of Macedonia. Over the past 40 years, population surveys of more than 22,000 participants (school children and workers) from all over the country, have shown that the average incidence...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260601056726
更新日期:2007-01-01 00:00:00
abstract::Thalassemias and hemoglobinopathies are very common among Southeast Asian populations, particularly in Thailand, where it is estimated that nearly 30% of the population carries at least one such disorder. Moreover, the heterogeneity of different mutant alpha- and beta-globin alleles contributes to the complexity in di...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260601059225
更新日期:2007-01-01 00:00:00
abstract::The present study aimed at differentiating rare types of heterozygous beta-thalassemia (thal) with normal Hb A(2) values from alpha-thal in Iranian carriers by globin chain synthesis in addition to other hematological parameters. Our study groups consisted of 51 normal subjects, 24 heterozygous beta- thalassemic subje...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260701462006
更新日期:2007-01-01 00:00:00
abstract::We present the case of a child in whom beta-thalassemia (thal) major was apparently caused by homozygosity for a 4-base deletion mutation [codons 41/42 (-TTCT)] of the beta-globin gene. However, the mutation was not identified in the father. The presence of a deletional beta-thal was detected by long-range polymerase ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260701459432
更新日期:2007-01-01 00:00:00
abstract::Deltabeta-thalassemia (thal) is a disorder, characterized by increased levels of fetal hemoglobin (Hb F) in adult life. A considerable number of deletions of variable size and position in the beta-globin gene cluster are associated with the clinical manifestation of deltabeta-thal. In this study we have determined the...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260701641286
更新日期:2007-01-01 00:00:00
abstract::In a multicenter study (eight centers), we determined secretory phospholipase A(2) (sPLA(2)) levels in patients with sickle cell disease and acute chest syndrome (ACS). The diagnosis of ACS was made according to established criteria. The sPLA2 levels were determined in blood samples collected at baseline (time of diag...
journal_title:Hemoglobin
pub_type: 杂志文章,多中心研究
doi:10.1080/03630260600642260
更新日期:2006-01-01 00:00:00
abstract::Patients with beta-thalassemia (thal) major are subject to peroxidative tissue injury by iron overload. Glutathione S-transferases work as antioxidants, and their activity is determined genetically. In this study, we used multiplex polymerase chain reaction (m-PCR) to analyze polymorphisms of two endogenous antioxidan...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260600642575
更新日期:2006-01-01 00:00:00
abstract::The surface plasmon resonance (SPR) approach, being a relatively novel biophysical method, is used to detect many different targets by biomolecular interaction. The SPR system uses optical and evanescent wave phenomenon. This approach does not need any labels, such as enzymes or isotopes, and the monitored interaction...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260600755807
更新日期:2006-01-01 00:00:00
abstract::To help clarify the hematological picture of patients who may be positive for beta- and delta-globin gene mutations, the following study was carried out. Our aim was to identify the delta-globin gene mutations found in the Greek Cypriot population, their frequencies and the Hb A2 values associated with them. Seventy-f...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260600868006
更新日期:2006-01-01 00:00:00