Abstract:
:A study of the spectrum of beta-thalassemia mutations in the southern part of the West Bank of the Palestinian Authority revealed the presence of 10 different beta-globin mutations. The study included 41 patients and 54 carriers of beta-thalassemia and sickle cell anemia. The spectrum of mutations observed was typically Mediterranean. However, their relative frequencies was unique. The predominant allele was IVS-I-6 (T-->C), with an exceptionally high frequency of 48.5% for this mutation. The homozygous IVS-I-6 patients had widely variable clinical presentations, from typical transfusion-dependent thalassemia major to non-transfusion-dependent thalassemia intermedia phenotype. Since it is so widespread in these West Bank populations, the IVS-I-6 mutation may date back to ancient times. The nonsense mutation at codon 37 (G-->A) was found at a relatively high frequency of 11.3%, supporting the hypothesis that it originated in this region. The other mutations, at decreasing frequencies ranging from 9.5-1.5%, were: IVS-I-110 (G-->A), frameshift codon 5 (- CT), IVS-I-1 (G-->A), IVS-II-1 (G-->A), Hb S [beta6(A3)Glu-->Val], frameshift codons 8/9 (+G), codon 39 (C-->T), and -30 (T-->A). Our findings will improve health care for the Palestinian population, and also has implications for the study of the origin and spread of thalassemia in the Middle East.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
El-Latif MA,Filon D,Rund D,Oppenheim A,Kanaan Mdoi
10.1081/hem-120002938keywords:
subject
Has Abstractpub_date
2002-02-01 00:00:00pages
33-40issue
1eissn
0363-0269issn
1532-432Xjournal_volume
26pub_type
历史文章,杂志文章相关文献
HEMOGLOBIN文献大全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::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::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::A new unstable hemoglobin (Hb) variant, named Hb Aalesund, was detected during Hb A1c measurement in a patient with a nearly compensated hemolytic anemia. Sequencing of the α-globin genes revealed a 7 bp deletion in exon 3 of the HBA2 gene (HBA2: c.400_406delAGCACCG) (NM_000517.4) causing a frameshift and a premature ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2019.1614048
更新日期:2019-03-01 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::The levels of G gamma chain in the fetal hemoglobin of more than 40 Black and Caucasian females were determined with a sensitive high performance liquid chromatography procedure and were correlated with their haplotypes, defined by the presence or absence of 10 different restriction sites. Blood was collected during t...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268609046444
更新日期:1986-01-01 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::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::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::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::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::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::Globin chain synthesis and globin mRNA content were studied in blood cells of a patient homozygous for Hb Lepore. Peripheral blood cells incubated with tritiated leucine synthesized approximately 1.5 to 3% as many Lepore globin chains as alpha chains. Globin mRNA in peripheral blood cell RNA was assayed by molecular h...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630267809074779
更新日期:1978-01-01 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::From May 1985 to October 1987, 1,564 Southeast Asians living in Hawaii were screened for hereditary anemias. Microcytosis was determined by electronic red cell indices and morphology; iron deficiency was ruled out by normal red cell distribution width and normal protoporphyrin levels; Hb E was determined by electropho...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268808991636
更新日期:1988-01-01 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::Despite estimated high prevalence of inherited hemoglobin (Hb) disorders among tribal populations in Madhya Pradesh State, India, the burden of disease is unknown, leading to high morbidity and associated mortality. Our aim was to screen tribal populations in designated tribal districts of Madhya Pradesh State for var...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2020.1848859
更新日期:2020-11-01 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::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::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::This report describes the first case in Spain of a severe form of beta-thalassemia (thal) due to a compound heterozygosity for the IVS-II-848 (C --> A) and the nonsense codon 39 (C --> T) mutations. Five members of a family from Cadiz (southern Spain) were studied. The proband was an 8-year-old girl diagnosed as anemi...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260500453875
更新日期:2006-01-01 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::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::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::The Dubai Thalassemia Center has identified 35 different beta-thalassemia mutations in 570 chromosomes from the United Arab Emirates population using gene amplification, hybridization with specific labeled oligonucleotide probes, sequencing of amplified DNA, restriction enzymes, and amplification refractory mutation s...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269708997384
更新日期:1997-05-01 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::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::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::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::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