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 genetic counseling and prenatal diagnosis (PND). During the past 14 years, from at least 7000 referrals, 754 couples were investigated for α-thal by direct mutation detection methods followed by reverse strip assay and α-globin gene sequencing for inconclusive cases. Detection of silent β-thalassemia (β-thal) mutations was done in suspected cases by complete β-globin gene sequencing. We were able to provide a molecular diagnosis in 87.3% (658/754) of couples. A total of 9.1% (60/658) may have a clinically significant hemoglobinopathy in their offspring. Significant conditions included hydrops fetalis (20.0%; 12/60), certain Hb H (β4) genotypes (78.3%; 47/60) and β-thal intermedia (β-TI) (1.7%; 1/60). The diagnostic flowchart for couples with microcytic hypochromic anemia in countries with a high prevalence of hemoglobinopathies should include α and β gene sequencing. As our results indicate, every nine out of 100 of these couples will face significant hemoglobinopathies and every two out of 100 can carry Hb Bart's (γ4) hydrops fetalis in their pregnancies. For such cases, PND should be utilized to allow the carrier couples to decide whether or not to abort the fetus.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Hafezi-Nejad N,Khosravi M,Bayat N,Kariminejad A,Hadavi V,Oberkanins C,Azarkeivan A,Najmabadi Hdoi
10.3109/03630269.2014.909365subject
Has Abstractpub_date
2014-01-01 00:00:00pages
153-7issue
3eissn
0363-0269issn
1532-432Xjournal_volume
38pub_type
临床试验,杂志文章相关文献
HEMOGLOBIN文献大全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::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::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::The molecular basis of the thalassemias has been studied in many of the world's populations. Here we report the results of the first screening for mutations in Vietnam. Twenty-three unrelated patients, of which 17 have Hb E/beta-thalassemia, were diagnosed and beta-globin mutations were detected in all 46 chromosomes....
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630260009003428
更新日期:2000-05-01 00:00:00
abstract::Hb Brest [beta 127 (H5)Gln----Lys] is a new unstable variant located at the alpha 1 beta 1 interface at the same position as Hb Complutense [beta 127(H5)Gln----Glu]. In each of these, the substitution produces a distinct alteration in charge, yet both variants move with Hb A in conventional electrophoresis. This pecul...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268808998024
更新日期:1988-01-01 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::Erythropoiesis is increased in cultures of human blood progenitors when oxygen tension is reduced from 20% (room air) to 5% (low oxygen, closer to physiological bone marrow levels). The effects of low oxygen on gamma-globin synthesis and colony growth in methyl cellulose cultures of blood mononuclear cells from normal...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269509005813
更新日期:1995-09-01 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::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::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::The recently developed capability to separate and quantify each of several proteins concurrently in single red cells presents an opportunity to test for biological variations in intercellular distribution of a protein as well as the extent of correlation between quantities of gene products derived from a single cell g...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268508996996
更新日期:1985-01-01 00:00:00
abstract::The high performance liquid chromatograms of the hemoglobins in a hemolysate show minor peaks on reversed phase columns in addition to the expected major peaks of the alpha, beta, and gamma chains. One of these had previously been identified as the delta chain. The material in the most prominent minor peak which is te...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268609042845
更新日期:1986-01-01 00:00:00
abstract::A system of calculating relative mobilities of mutant hemoglobins and globin chains in four methods of zone electrophoresis is described. In electrophoresis on cellulose acetate, TEB buffer, pH 8.5, mobilities are calculated as ratios of the mobility of simultaneously analyzed Hb C. In electrophoresis on citrate agar,...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630267809007076
更新日期:1978-01-01 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::β-Thalassemia (β-thal) is one of the most common genetic disorders in Turkey. In this study, we investigated the mutations and frequency of β-thal at the molecular level in pediatric β-thal patients in the Çukurova region. The β-thal mutations of 52 cases were analyzed. An automated blood cell counter was used for hem...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2020.1792489
更新日期:2020-07-01 00:00:00
abstract::A fast-moving hemoglobin variant was found in five members of a Chinese family of the Wuming district. The relative amount of this alpha chain variant in the heterozygote was about 20%. The abnormality caused no ill effects in its carriers. Sequence analysis identified a Lys substituting for Gln substitution at positi...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268108991835
更新日期:1981-01-01 00:00:00
abstract::Clinical, hematologic, and molecular genetic studies are reported for five families with SS patients having unusually high fetal hemoglobin (Hb F) levels (mean 28.3%, range 19-42%). Some of the individuals were symptom-free and one was not anemic. However, some were symptomatic despite a very high Hb F. Neither the Hb...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269209005688
更新日期:1992-01-01 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::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::This work compiles the results of our research on alpha- and beta-thalassemias, and includes a literature review of the molecular genetics of alpha- and beta-thalassemias in Spain. We studied 1,564 subjects with thalassemia (294 with beta-thalassemia and 1,264 with alpha-thalassemia) by molecular biology techniques. I...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1081/hem-100105220
更新日期:2001-08-01 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::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::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 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::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 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::A third case of Hb J Iran is reported. The propositus is of Russian-Armenian origin and was investigated for hematuria. The electrophoretic behavior and the characterization of primary structure are described. Hb J Iran is stable and has normal functional properties. High resolution Nuclear Magnetic Resonance spectra ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268608996868
更新日期:1986-01-01 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::Hb Mont Saint-Aignan [beta128(H6)Ala-->Pro] is a mildly unstable variant, associated with hemolytic anemia, marked microcytosis and increased alpha/beta biosynthetic ratio (1.55 versus 1.1 +/- 0.1 in the control). The abnormal chain was isolated by selective precipitation with isopropanol and the structural modificati...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1081/hem-100103070
更新日期:2001-02-01 00:00:00
abstract::Iran, as a country located in the Thalassemia Belt, has made great progress in thalassemia prevention and treatment. The thalassemia prevention program was implemented in 1995 and the country-wide thalassemia treatment network, consisting of 64 medical universities and faculties, is active. The acknowledgment of the s...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2019.1628774
更新日期:2019-05-01 00:00:00