Abstract:
:During the course of a screening program for beta-thalassemia mutations among beta-thalassemia heterozygotes in Yugoslavia we observed a mutation (ATG----ACG) in the initiation codon of the beta-globin gene which has not been described before. The abnormality was initially detected through mapping of the beta-globin gene by Southern blot analysis using the restriction enzyme Nco I. The loss of the Nco I site resulted in the presence of an 8.3 kb band in addition to the normal 5.2 kb band. The mutation was identified by sequence analysis of amplified DNA and by dot-blot analysis of this DNA with a 32P-labeled oligonucleotide probe. An additional polymorphism (CAC----CAT) was present at codon 2 on the same chromosome; this mutation was detected by Orkin et al in 1982 (1). Hematological and in vitro chain synthesis data suggest that the beta-thalassemia is of the beta zero type.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Jankovic L,Efremov GD,Josifovska O,Juricic D,Stoming TA,Kutlar A,Huisman THdoi
10.3109/03630269009046958subject
Has Abstractpub_date
1990-01-01 00:00:00pages
169-76issue
2eissn
0363-0269issn
1532-432Xjournal_volume
14pub_type
杂志文章相关文献
HEMOGLOBIN文献大全abstract::Homoserine, asparagine and glutamine do not restore the deformability of deoxygenated sickle cells in spite of noticeable morphological changes. These amino acids also do not raise the minimum gelling concentration of deoxyhemoglobin S. The use of these compounds as anti-sickling agents is therefore doubtful. ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268009042381
更新日期:1980-01-01 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::We report two families, members of which are carriers of a novel hemoglobin (Hb) variant that was named Hb Olivet [α13(A11)Ala→Thr (α1) (GCC > ACC); HBA1: c.40G > A; p.Ala14Thr]. The analysis of these cases allowed a clear description of this anomaly that behaves as a silent Hb. In the first family, of Portuguese ethn...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2016.1210160
更新日期:2016-09-01 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
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 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::The minor components of Hb Bart's were separated by CM-cellulose chromatography, reverse-phase HPLC, and DEAE-cellulose chromatography. These were characterized by amino acid analysis, tryptic peptide analysis by HPLC, electrophoresis, and carbohydrate and phosphate analysis. Acetylated and glycated components of Hb B...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268709042852
更新日期:1987-01-01 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::In Thailand alpha-thalassemia (thal), beta-thal, hemoglobin (Hb) E and Hb Constant Spring (Hb CS) are prevalent. The incidences are 20-30% for alpha-thal (3.5% for alpha-thal-1 and 16% for alpha-thal-2), 3-9% for beta-thal, up to 54% for Hb E and nearly 8% for Hb CS. Different combinations of these genes result in a s...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268808991648
更新日期:1988-01-01 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::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::We detected Hb D-Los Angeles [beta 121(GH4)Glu-->Gln], the most common hemoglobin variant after Hb S and Hb Lepore-Boston, in six unrelated families in Southern Italy. Ten patients were studied; eight patients were heterozygotes and two were compound heterozygotes for the hemoglobin variant and the beta-thalassemia co...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269308998881
更新日期:1993-02-01 00:00:00
abstract::We present the characterization of the molecular spectrum and frequency data of alpha-thal (thal) defects in Tunisia, and an evaluation of the efficacy and limitations of Hb Bart's (gamma4) measurement for the screening of alpha-thal at birth. Cord blood samples were collected from two different areas: the northeast o...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1081/hem-120016372
更新日期:2002-11-01 00:00:00
abstract::Hb Puttelange [beta 140(H18)Ala-->Val] was found in a 51-year-old Italian man who had mild polycythemia. The variant eluted from ion exchange high performance liquid chromatography at a position between Hb A and Hb A2. It comprised approximately 34% of the total hemoglobin, was weakly unstable and exhibited an increas...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269708997507
更新日期:1997-01-01 00:00:00
abstract::Analysis of DNA polymorphic sites is an important tool for the detection of gene flow in human evolutionary studies and to study the genetic background for gene mutations. The beta-globin locus contains several single-base restriction fragment length polymorphism (RFLP) sites throughout chromosome 11. In addition to t...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:
更新日期:2005-01-01 00:00:00
abstract::We describe a novel compound heterozygous genotype which consists of two point mutations named Hb Adana (HBA1: c.179G>A) and codon 127 (HBA2: c.382A>T) in a Kurdish family with two girls affected with severe α-thalassemia (α-thal). Both patients (the proband and her sister) had a history of splenectomy during childhoo...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2020.1766485
更新日期:2020-03-01 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::Hemoglobinopathies exhibit a remarkable phenotypic diversity in terms of disease severity, while individual genetic background plays a key role in differential response to drug treatment. In the last decade, genomic variants in genes located within, as well as outside the human β-globin cluster have been shown to be s...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2019.1597732
更新日期:2019-01-01 00:00:00
abstract::This study concerns the determination of beta-thalassemia alleles and other hemoglobin variants in 82 patients from Syria. We have characterized 146 chromosomes and found 17 different beta-thalassemia mutations, and one beta-globin chain variant that gives rise to the abnormal Hb S. The eight most common beta-thalasse...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630260009002268
更新日期:2000-02-01 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::We report a newborn with a compound heterozygosity for Hb O-Arab (HBB: 364G>A) and Hb D-Los Angeles (HBB: 364G>C). To the best of our knowledge, the combination of these two hemoglobin (Hb) variants has not been identified and reported before. The variants of the proband and parents were identified by high-performance...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2019.1710530
更新日期:2020-01-01 00:00:00
abstract::An electrophoretically I-like hemoglobin variant was detected during a survey for abnormal hemoglobins in Dagestan (USSR). Neither clinical nor hematological abnormalities were seen in the carrier for this mutant hemoglobin. Structural studies demonstrated a previously undescribed substitution of alpha 60 (E9) Lys lea...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268108996919
更新日期:1981-01-01 00:00:00
abstract::Hb Uxbridge [beta 20(B2)Val-->Gly] was found in an English family during a neonatal hemoglobinopathy screening program. In both the child and the parent carrying this hemoglobin variant, the red cell parameters were normal. By isoelectrofocusing Hb Uxbridge appeared to have an isoelectric point slightly higher than Hb...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269609005838
更新日期:1996-11-01 00:00:00
abstract::The capillary electrophoresis (CE) system allows the quantification of Hb Bart's (γ4) and Hb H (β4) that is used for screening of Hb H disease. However, Hb Bart's hydrops fetalis and Hb H are not always codetected in patients with Hb H disease. In this study, 35 samples were analyzed for the α0-thalassemia (α0-thal) [...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2019.1683573
更新日期:2019-01-01 00:00:00
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::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::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::The aim of this study was to evaluate the clinical, biological and genetic factors that could be associated with the use and dose of morphine during hospitalization for vaso-occlussive crisis (VOC) in adults with sickle cell disease. Ninety-nine hospitalizations for acute VOC (58 sickle cell disease patients aged 18 t...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2018.1529602
更新日期:2018-07-01 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 hemoglobin variant with the same electrophoretic mobility as hemoglobin S was found in three generations of a black family. No clinical symptoms or findings were present in subjects heterozygous for this mutant. Except for target forms of mature erythrocytes, they have no abnormal hematologic findings. Structural st...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630267609031021
更新日期:1976-01-01 00:00:00