解剖学和形态学
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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
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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
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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::Sickle cell disease presents a great clinical variability that remains largely misunderstood. New disease protective genetic modifiers acting mainly through an increased Hb F level have recently been described. We studied relations between clinical and hematological phenotypes and known sickle cell disease genetic mod...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1023897
更新日期:2015-01-01 00:00:00
abstract::Compound heterozygosity for one of the Hb Lepore mutations and β-thalassemia (β-thal) is a rare cause of non transfusion-dependent thalassemia. We report a 4-year-old boy who presented clinically as homozygous/compound heterozygous β-thal intermedia (β-TI), an impression that was corroborated by the initial hemoglobin...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1064004
更新日期:2015-01-01 00:00:00
abstract::Laboratory investigation of hemoglobinopathies includes complete blood count (CBC), hemoglobin (Hb) typing by high performance liquid chromatography (HPLC) and DNA analysis. DNA analysis is the most reliable method but requires a manually laborious procedure and is time consuming. A more practical method of detecting ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1027828
更新日期:2015-01-01 00:00:00
abstract::β-Thalassemia (β-thal), is an autosomal recessive disorder caused by mutations at the β gene locus. β-Thalassemia major (β-TM) is a severe form of the disease, characterized by severe hypochromic and hemolytic anemia with an increased need for transfusion. Hemolysis is caused by intoxication, whereas mechanical remova...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1029588
更新日期:2015-01-01 00:00:00
abstract::The aim of this study was to demonstrate the performance of nondeletional α-thalassemia (α-thal) prevention using a reverse dot-blot method at a Mainland Chinese hospital. A prenatal control program for nondeletional Hb H disease was performed between January 2009 and December 2013. All couples were screened for α-tha...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2014.985832
更新日期:2015-01-01 00:00:00
abstract::β-Thalassemia (β-thal) is an inherited blood disorder characterized by reduced or absent synthesis of the β chains of hemoglobin (Hb). Although a number of causative mutations have been reported, here we report two novel mutations detected in Chinese patients. Red blood cell (RBC) indices were indicative of β-thal, bu...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1049703
更新日期:2015-01-01 00:00:00
abstract::Chronic red blood cell (RBC) transfusion is employed for a wide range of sickle cell disease complications, ranging from primary and secondary stroke prophylaxis to prevention of painful vaso-occlusive episodes. Currently different methods are employed by centers for chronic transfusion that include simple, automated ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1057734
更新日期:2015-01-01 00:00:00
abstract::α-Thalassemia (α-thal) is widely reported in the Arabian Peninsula as one of the main causes of asymptomatic microcytic hypochromic red blood cells with or without anemia in the pediatric population. This is the first study that provides information about the molecular basis of α-thal in the Qatari population. Qatari ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1060606
更新日期:2015-01-01 00:00:00
abstract::β-Thalassemia intermedia (β-TI) is a clinical term describing a range of clinical phenotypes that are intermediate in severity between the carrier state and β-thalassemia major (β-TM). To characterize the molecular basis of β-TI in Erbil Province, Northern Iraq, 83 unrelated patients were investigated. Detection of β-...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1032415
更新日期:2015-01-01 00:00:00
abstract::We describe two novel α2 gene mutations that result in an altered amino acid sequence. In case 1, the α2 stop codon was mutated from TAA > TTA (HBA2: c.428A > T), resulting in an α2 protein chain extension of 31 amino acids. The new hemoglobin (Hb) variant was named Hb Kinshasa for the place of origin of the patient. ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1008137
更新日期:2015-01-01 00:00:00
abstract::The most common differential diagnosis of β-thalassemia (β-thal) trait is iron deficiency anemia. Several red blood cell equations were introduced during different studies for differential diagnosis between β-thal trait and iron deficiency anemia. Due to genetic variations in different regions, these equations cannot ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2014.948187
更新日期:2014-01-01 00:00:00
abstract::Hb Hammersmith [β42(CD1)Phe → Ser; HBB: c.128T > C] is a rare, unstable hemoglobin (Hb) variant. In this case report, we describe another male case of Hb Hammersmith. A 39-year-old male had hemolytic anemia, cyanosis and splenomegaly since 6 months after birth. He passed the disease allele to his daughter, a 3-year-ol...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2014.880352
更新日期:2014-01-01 00:00:00
abstract::Hb H (β4) disease is an inherited hemoglobin (Hb) defect in which three of the four α-globin genes are deleted or dysfunctional. The clinical manifestations vary widely from mild asymptomatic anemia to a severely anemic state. Recent literature suggests that Hb H disease is not as benign a disorder as previously thoug...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2013.853674
更新日期:2014-01-01 00:00:00
abstract::Our study aimed to determine the number of couples with normal hemoglobin (Hb) electrophoresis and low-borderline hematological values, which may come up with a clinically critical status in their offspring. The number of couples at risk for severe α-thalassemia (α-thal) needed to be estimated before recommending gene...
journal_title:Hemoglobin
pub_type: 临床试验,杂志文章
doi:10.3109/03630269.2014.909365
更新日期:2014-01-01 00:00:00
abstract::In this study, we describe the clinical features and provide experimental analyses of a novel point mutation affecting the penultimate nucleotide of the first exon of the HBA2 (HBA2: c.94A > G) gene identified in a 26-year-old female who also carries a heterozygous Hb E (HBB: c.79G > A) variant. The aim of the study w...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2013.858639
更新日期:2014-01-01 00:00:00
abstract::Low bone mass, a major cause of morbidity in patients with β-thalassemia major (β-TM), is multifactorial. There is lack of data about the current prevalence of low bone mass in patients with β-TM. The aims of this study are to examine the current prevalence of low bone mass in β-TM patients and the association between...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2014.905792
更新日期:2014-01-01 00:00:00
abstract::A 7-year old boy presented with a history of recurrent respiratory infections and hypochromic microcytic anemia. Iron profiles were normal thereby prompting genetic analysis of α- and β-globin mutations. The first mutation in a BRE motif of the β-globin gene in the proband, sibling and the mother was identified. The p...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2013.772523
更新日期:2013-01-01 00:00:00
abstract::Sickle cell disease is an inherited hemoglobinopathy with multi system complications. It has been associated with multiple maternal complications. A retrospective review of 68 consecutive pregnant women with sickle cell disease, followed in a tertiary center, was conducted over 5 years, to estimate the incidence of di...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2013.780249
更新日期:2013-01-01 00:00:00
abstract::α-Thalassemia (α-thal) is usually caused by deletions on the α-globin gene cluster and the role of point mutations is less well investigated. In the present study, a total of 1048 individuals with hypochromic microcytic anemia, who did not present the most common α-thal deletions, were referred for α-globin gene DNA s...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2013.763821
更新日期:2013-01-01 00:00:00
abstract::Toto is one of the smallest tribes in the world. This primitive sub Himalayan, endogamous tribe lives in a small, isolated village called Totopara in the Jalpaiguri district of West Bengal in India. The tribal communities of West Bengal are vulnerable to various genetic disorders such as β-thalassemia (β-thal). We hav...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.746942
更新日期:2013-01-01 00:00:00
abstract::We report the molecular and hematological characteristics of two rare hemoglobin (Hb) variants found in associations with a common α(0)-thalassemia (α(0)-thal) in Thai patients. The first case (P1) was a generally healthy 27-year-old man discovered during our ongoing thalassemia screening program. Hemoglobin and DNA a...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.747964
更新日期:2013-01-01 00:00:00
abstract::Iron is an essential component in the structure of certain molecules such as hemoglobin (Hb), myoglobin, cytochrome C and some enzymes. The iron gateway to cells is transferrin receptor (TfR). Soluble transferrin receptor (sTfR) is a product of the TfR that circulates in plasma, its concentration therefore, is proport...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2013.780248
更新日期:2013-01-01 00:00:00
abstract::We report a novel hemoglobin (Hb) variant that we named Hb Fulton-Georgia, caused by a point mutation in exon 1/codon 20 of the α-globin gene [α20(B1)His→Pro; HBA1: c.62A>C]. This α chain variant was identified in an adult African-American female with Hb SC disease who was also heterozygous for the α-thalassemia-2 (α-...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2013.810640
更新日期:2013-01-01 00:00:00
abstract::To assess the effects of combined vitamin therapy on oxidant-antioxidant hepatic status and hemoglobin (Hb) derivatives on β-thalassemia major (β-TM), a prospective study of 60 β-TM patients aged 4 to 17 years, was conducted. Thirty-nine patients with initial low serum vitamins E, C and A, were treated with oral combi...
journal_title:Hemoglobin
pub_type: 杂志文章,随机对照试验
doi:10.3109/03630269.2013.778866
更新日期:2013-01-01 00:00:00
abstract::Recently, five genetic modifiers [β-globin mutations, coinheritance of α-thalassemia (α-thal), XmnI polymorphism and single nucleotide polymorphisms (SNPs) in the BCL11A and HBS1L-MYB loci] were used to predict the β-thal major (β-TM) or β-thal intermedia (β-TI) types in 106 French patients with 83.2% accuracy. The di...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2013.805418
更新日期:2013-01-01 00:00:00
abstract::Many patients with sickle cell disease receive blood transfusions as a life-saving treatment. However, excess transfusions may lead to increased body iron burden. Specifically, heart failure due to cardiac iron overload is the leading cause of death in these patients. The purpose of this study was to investigate the p...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.679376
更新日期:2012-01-01 00:00:00
abstract::Acquired α-thalassemia (α-thal) myelodysplastic syndrome (ATMDS) is a rare acquired syndrome characterized by a somatic point mutation in the ATRX gene in patients with chronic myeloid disorders. We describe the case of a 78-year-old man with myelodysplastic syndrome (MDS) and striking microcytic, hypochromic anemia. ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.724040
更新日期:2012-01-01 00:00:00
abstract::Anti-Lepore hemoglobins (Hbs) are rare βδ fusion variants that arise from non homologous crossover during meiosis. We describe the application of multiplex ligation-dependent probe amplification (MLPA) to test for a suspected anti-Lepore Hb in an individual with an ambiguous Hb variant detected on routine screening by...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.660901
更新日期:2012-01-01 00:00:00
abstract::With around 7,500 β-thalassemia (β-thal) births in India annually, preventive measures such as pre marital counseling and prenatal diagnosis are needed to decrease the incidence of the disease in the country. The predominant mutant alleles vary from the Middle East through India to Sri Lanka, as well as in different r...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.699489
更新日期:2012-01-01 00:00:00
abstract::Hb Taybe is a highly unstable hemoglobin (Hb) variant caused by a 3 bp deletion at codons 38/39 (-ACC) on the α1-globin gene. We report for the first time, a patient with a compound heterozygosity for Hb Taybe and a 5 bp deletion at the splice donor site of IVS-I on the α2-globin gene and ischemic stroke and priapism....
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.746230
更新日期:2012-01-01 00:00:00
abstract::The identification of α-thalassemia (α-thal) due to point mutations has been increasing significantly with the advancement of molecular diagnostic tools. We describe here the molecular and cellular characteristics of the thalassemia mutation HBA2:c.94A>C, a novel point mutation affecting the α2-globin gene, causing a ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.670683
更新日期:2012-01-01 00:00:00
abstract::Hb S [β6(A3)Glu→Val, GAG>GTG] is a β-globin gene variant that has a very low incidence in the Thai population. Coinheritance of Hb S and β(0)-thalassemia (β-thal) can result in severe clinical conditions. This study reports the case of a Thai patient with a compound heterozygosity for Hb S and β(0)-thal codon 17 (A>T)...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.669358
更新日期:2012-01-01 00:00:00
abstract::In order to determine the prevalence of thalassemia and hemoglobinopathies in different regions of northeast (NE) Thailand and Vientiane, Laos People's Democratic Republic (PDR), a total of 1,809 blood samples were collected consecutively from individuals attending antenatal care services at 11 community hospitals in ...
journal_title:Hemoglobin
pub_type: 杂志文章,多中心研究
doi:10.3109/03630269.2011.637149
更新日期:2012-01-01 00:00:00
abstract::We report a novel frameshift mutation in exon 3 of the β-globin gene, that, in the heterozygous state, leads to a β-thalassemia intermedia (β-TI) phenotype (marked anemia, splenomegaly, hyperbilirubinemia, jaundice, unbalanced synthesis of α/non-α chains in a 34-year-old Italian woman. This frameshift mutation, due to...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.718309
更新日期:2012-01-01 00:00:00
abstract::The major defect in α-thalassemia (α-thal) is a single or double gene deletion. The aim of this study was to evaluate the α-thal mutations in two provinces of Southern Iran, Fars & Kohkeloye and Bouyer Ahmad. A total of 2000 subjects with microcytic hypochromic anemia was selected as a study group; finally, 1177 subje...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.657729
更新日期:2012-01-01 00:00:00
abstract::Almost 3 million babies were tested in a newborn screening program in Minas Gerais, Brazil (1998-2008); 128 who have S-like hemoglobins (Hbs) were tested for the β(S) allele and 112 were identified through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) or sequencing. Hb Stanleyville-II [...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.686257
更新日期:2012-01-01 00:00:00
abstract::The recognition of sickle cell disease as a chronic vasculopathy characterized by endothelial injury has led to new insights into complex biological processes and offers the potential for novel pharmacological treatments. Endothelial injury has been related to impaired nitric oxide (NO) homeostasis, inflammation, oxid...
journal_title:Hemoglobin
pub_type: 杂志文章,评审
doi:10.3109/03630269.2011.606482
更新日期:2011-01-01 00:00:00
abstract::Major advances were presented at the 19th International Conference on Chelation (ICOC) in London, UK including changes in iron chelation therapy that led to the complete treatment of transfusional iron overload. The first oral iron chelation results in animals using deferiprone (L1) were published in 1985, and effecti...
journal_title:Hemoglobin
pub_type:
doi:10.3109/03630269.2011.575663
更新日期:2011-01-01 00:00:00
abstract::The limitations of current therapies for the treatment of iron overload or radioisotope contamination have stimulated efforts to develop new orally bioavailable iron and actinide chelators. Siderophore-inspired tetradentate, hexadentate and octadentate terephthalamidate and hydroxypyridonate ligands were evaluated in ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2011.560771
更新日期:2011-01-01 00:00:00
abstract::We report the spectrum of β-thalassemia (β-thal) mutations observed in a cohort of at-risk couples, who presented for prenatal diagnosis at the Thalassemia, Hemophilia and Prenatal Diagnosis Genetic Research Center, Shiraz Medical University, Fars, Iran, from March 2001 to April 2002. Using polymerase chain reaction-a...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2011.601385
更新日期:2011-01-01 00:00:00