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 codon 39 (C-->T) nonsense mutation. The beta-globin gene sequence was characterized by polymerase chain reaction direct sequencing; restriction fragment length polymorphisms were defined by Southern blot analysis. The gene variant, due to the GAA-->CAA substitution at codon 121, was found in association with the 5' subhaplotype [+ - - - -] and the beta-globin gene framework 1; in addition, it was found to be associated with the absence of Ava II/phi beta and Xmn I/5'G gamma, and with the presence of Hpa I/3' beta. This restriction fragment length polymorphism haplotype is common in the Mediterranean area as well as in other populations. The findings are equally compatible with an independent origin in the Mediterranean area or with origin in Asia and subsequent spread to Italy.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Fioretti G,De Angioletti M,Pagano L,Lacerra G,Viola A,de Bonis C,Scarallo A,Carestia Cdoi
10.3109/03630269308998881subject
Has Abstractpub_date
1993-02-01 00:00:00pages
9-17issue
1eissn
0363-0269issn
1532-432Xjournal_volume
17pub_type
杂志文章相关文献
HEMOGLOBIN文献大全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::Two abnormal hemoglobins were accidentally detected by cation exchange high performance liquid chromatography with the Diamat system of Bio-Rad Laboratories; the variants eluted together with the fast-moving Hb A1c. Structural analysis of isolated beta chains and sequence analysis of amplified DNA identified a new var...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269208993117
更新日期:1992-01-01 00:00:00
abstract::The unusual combination of haemoglobins S and E was found in two Saudi Arab siblings. The father was homozygous for HbE and the mother was heterozygous for HbA and HbS. Clinical and laboratory findings are presented and compared with those of the six cases of HbSE heterozygosity previously reported. The significance o...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268508996981
更新日期:1985-01-01 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::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::Globin subunits may be elongated because of a base substitution in the termination codon, a crossover out of phase (frame shift) or a crossover in phase. This review presents structural, genetic, biosynthetic and clinical information on the eight variants having elongated chains which have been described to date. ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630267808999185
更新日期:1978-01-01 00:00:00
abstract::An abnormal profile of cation exchange high performance liquid chromatography for the determination of Hb A1c led to the discovery of a new hemoglobin variant with a His----Tyr substitution at position 97(FG4) of the beta chain. The variant comprised about equal proportion to normal Hb A. It showed an increased oxygen...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268909003399
更新日期:1989-01-01 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::Codon 14 (+T) (HBB: c.44_45insT) is a very rare β-thalassemia (β-thal) mutation previously reported in three β-thal major (β-TM) patients of Azerbaijani origin. None of the previous reports described the genotype-phenotype correlation of the mutation. We here report the first case of homozygous codon 14 together with ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2018.1528987
更新日期:2018-07-01 00:00:00
abstract::We studied two members of an African American family with erythrocytosis. An abnormal hemoglobin variant with an electrophoretic pattern on cellulose acetate similar to Hb J was identified. The oxygen dissociation curve using whole blood was biphasic, dramatically left-shifted, and hyperbolic. Sequence analysis of DNA...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269708997515
更新日期:1997-03-01 00:00:00
abstract::Population surveys performed in different Brazilian ethnic groups, and comprising 23,606 subjects, disclosed, besides the common S and D types, hemoglobins G and Por to Alegre, as well as high F, A'2 and an apparently unstable A2 variant. Additional studies on isolated families revealed the occurrence of hemoglobins I...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268208996940
更新日期:1982-01-01 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::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 have identified through sequencing of amplified DNA a GCC-->GAC mutation in codon 115 of the beta-globin gene in a mother and daughter of a small Czech family. This base change was confirmed by hybridization with a 32P-labeled specific oligonucleotide probe and by gene mapping because it creates a new Ava II site. ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269308997485
更新日期:1993-08-01 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::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::We have identified a deletion of 125 bp (α-α(Δ125)) (NG_000006.1: g.37040_37164del) in the α-globin gene cluster in a Kabyle population. A combination of singlex and multiplex polymerase chain reaction (PCR)-based assays have been used to identify the molecular defect. Sequencing of the abnormal PCR amplification prod...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1136640
更新日期:2016-01-01 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::We report the molecular characterization of Hb Crete [beta129(H7)Ala-->Pro] in a female subject from the Greek island of Crete. DNA sequence analysis revealed a 1368 GCC-->CCC base substitution in exon 3 of the beta-globin gene, leading to the Ala-->Pro amino acid change at codon 129. Both the proband and her mother, ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1081/hem-200037796
更新日期:2004-01-01 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::The hemoglobin (Hb) pattern of a 32-year-old Somali male living in The Netherlands, during routine diabetes mellitus monitoring, showed two more peaks in addition to the characteristic heterozygous Hb A/S pattern. A major peak of 15% faster than Hb A, and a minor one of 10.8%, overlapping Hb A2 and the glycated Hb S1c...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1081/hem-200029150
更新日期:2004-08-01 00:00:00
abstract::The rat globin gene system is suitable for studying a coordinated regulation of seven genes from two gene families. A rat reticulocyte cDNA globin library has been constructed and two clones analyzed in detail. pBRrg 5 contains alpha while pBRrg X contains beta type sequence. These cloned cDNAs will be useful probes o...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268408991745
更新日期:1984-01-01 00:00:00
abstract::A 22 year old American negro with mild anemia was found to be triply heterozygous for hemoglobin S, hemoglobin O Arab and alpha thalassemia. Hemoglobin A was not detected in the subject's hemolysate. The alpha thalassemia gene was expressed by an alpha/non-alpha synthesis ratio of 0.71 plus or minus 0.07 and was equal...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630267708999172
更新日期:1977-01-01 00:00:00
abstract::The aim of this study was to analyze the rare β-thalassemia (β-thal) mutations in the Pakistani population. A total of 8716 unrelated Pakistani individuals having children with transfusion-dependent thalassemia were investigated by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for the p...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2017.1339612
更新日期:2017-03-01 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::The detection, quantitation, and characterization of five relatively rare beta chain abnormal hemoglobins mainly by high performance liquid chromatographic procedures are described. The variants involved are Hb City of Hope (beta 69 Gly----Ser), Hb Austin (beta 40 Arg----Ser), Hb Leiden (beta 6 or 7 Glu----0), Hb Loui...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268609072470
更新日期:1986-01-01 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::A novel hemoglobin (Hb) variant was found in a specimen that showed an unusual profile in analyses of glycohemoglobin An abnormal beta-globin, 443 Da smaller than normal beta-globin, was detected by electrospray ionization mass spectrometry (ESI/MS) with intact globin. Mass spectrometry analysis of tryptic peptides de...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:
更新日期:2005-01-01 00:00:00
abstract::Hemolysates from 100,000 people who visited the Kyushu University Hospital and affiliated hospitals during the past 15 years were screened for hemoglobinopathies using electrophoresis on thin-layer starch gel; those exhibiting an abnormality were characterized further on clinical, biochemical, and genetic grounds. Of ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268008996221
更新日期:1980-01-01 00:00:00