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 ethnicity living in France, the proband, a 24-year-old male and his 57-year-old mother, both appeared to be carriers. The son presented with borderline mean corpuscular volume (MCV), while the mother was normocytic and normochromic. Hemoglobin separation on capillary electrophoresis (CE) was normal, while a slightly asymmetric peak was observed on high performance liquid chromatography (HPLC). In a second family, originally from Surinam but living in The Netherlands, the proband, a 6-year-old girl, showed a mild microcytosis at low ferritin levels. The abnormal Hb was inherited from the mother who was clearly iron depleted, was not present in the sister and brother of the proband. The microcytic hypochromic anemia was only shown in two out of a total of four carriers. It therefore seems likely that iron depletion is causative as two carriers are completely normal. Characterization and genotype/phenotype correlation are briefly described.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Harteveld CL,Pissard S,Korver AM,Riou J,Legac E,Lansbergen G,Pardijs IL,Giordano PC,Versteegh FGdoi
10.1080/03630269.2016.1210160subject
Has Abstractpub_date
2016-09-01 00:00:00pages
349-352issue
5eissn
0363-0269issn
1532-432Xjournal_volume
40pub_type
杂志文章相关文献
HEMOGLOBIN文献大全abstract::Patients with beta-thalassemia (thal) major are subject to peroxidative tissue injury by iron overload. Glutathione S-transferases work as antioxidants, and their activity is determined genetically. In this study, we used multiplex polymerase chain reaction (m-PCR) to analyze polymorphisms of two endogenous antioxidan...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260600642575
更新日期:2006-01-01 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::Among the causes of life-long cyanosis are congenital methemoglobinemia due to M hemoglobins, congenital methemoglobinemia due to methemoglobin reductase deficiency, a small number of low oxygen affinity hemoglobins, and a small number of unstable hemoglobins that spontaneously form methemoglobin in vivo at an acceler...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269908996157
更新日期:1999-05-01 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::Without gel electrophoresis and specific probes, the two tubes real-time SYBR-polymerase chain reaction (SYBR-PCR) was setup by using different primer sets: P1/P2 for the detection of wild type alpha-globin gene alleles and P1/P3 for detection of the allele bearing the Southeast Asian (SEA) type (--SEA) deletion. Anal...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260701798367
更新日期:2008-01-01 00:00:00
abstract::The restriction endonuclease map of the alpha and beta globin genomic region of the new human erythroleukemia line, HEL, was compared with that of normal human DNA. The HEL line, which produces mainly fetal (G gamma and A gamma) but no adult (delta and beta) globin chains, was shown to have the same pattern of DNA fra...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268309048653
更新日期:1983-01-01 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::Thalassemia is the most common genetic disorder in Iran. Some α-globin genotypes leading to Hb H disease may cause severe anemia and dependence on regular blood transfusions. In this study, 40 patients were analyzed for the molecular basis and the genotype-phenotype correlation of Hb H disease in Iran. α-Globin molecu...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2010.546314
更新日期:2011-01-01 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::Our aim was to assess the efficacy and safety of hydroxyurea (HU) in children with severe forms of sickle cell anemia followed in a Portuguese hospital. We carried out an open-label uncontrolled prospective study, which included children with severe forms of sickle cell anemia. Hydroxyurea was started at 15 mg/kg/day ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1081/hem-200066299
更新日期:2005-01-01 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::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::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::Hb Westmead or alpha 2 122(H5)His----Gln beta 2 is one of the most common hemoglobin variants in Guangxi, a province in Southern China. The alpha 2-globin DNA sequence of a carrier for this variant was selectively amplified by the polymerase chain reaction and analyzed with the restriction enzyme Stu I. We found that ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269109027881
更新日期:1991-01-01 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::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::We have identified and quantitated the different types of mRNA in single BFU-E derived colonies from Hb S and Hb Atlanta [beta 75 (E19)Leu-->Pro] heterozygotes and observed that the normal and mutated mRNAs were present in equal quantities. Similar studies for the different protein products gave less accurate data bec...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269609027929
更新日期:1996-08-01 00:00:00
abstract::The Ggamma:Agamma ratio is around 70:30 at the time of birth and usually 40:60 in the trace amounts of Hb F found in the adult. Changes in this ratio are observed in several hemoglobin disorders providing insights on the genetics and molecular pathophysiology of these diseases. Several techniques have been proposed to...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269809071544
更新日期:1998-09-01 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::Genetic screening is an important tool to control, minimize, and prevent genetic disorders. Saudi Arabia started the first national premarital screening (PMS) program to control inherited hemoglobin (Hb) disorders that are the most commonly inherited genetic disorders in the Kingdom of Saudi Arabia. The aim of this st...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260802508384
更新日期:2008-01-01 00:00:00
abstract::β-Thalassemia (β-thal) is a genetic disorder representing a major health problem in Algeria. Our first objective was to determine the allelic frequencies and molecular spectrum of β-thal mutations in patients with major hemoglobinopathies [β-thal major (β-TM) and sickle cell disease] in three provinces of northeast Al...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2019.1675689
更新日期:2019-01-01 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::Chronic blood transfusions are necessary for patients with hereditary anemia such as thalassemia, and for patients with myelodysplastic syndrome (MDS) who become anemic and transfusion-dependent. A common consequence of chronic transfusion is iron accumulation that can lead to organ damage. While there is general agre...
journal_title:Hemoglobin
pub_type: 杂志文章,评审
doi:10.3109/03630260903212654
更新日期:2009-01-01 00:00:00
abstract::Hemoglobin Brisbane is a new hemoglobin variant which produces a mile erythrocytosis. It is not detectable by electrophoresis at pH 8.6 or by isoelectric focusing but it is mildly unstable and gives a positive result with standard stability tests. The new hemoglobin has increased oxygen affinity and reduced co-operati...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268108991807
更新日期:1981-01-01 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::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 sheep carrying simultaneously extra alpha-globin genes (triplications and quadruplications) and two alpha-chain allelic variants, a gradient of decreasing expression of the downstream genes was previously reported. We show here that in these sheep the proportions of the normal and variant Hbs reflect not only the p...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1081/hem-120035916
更新日期:2004-05-01 00:00:00
abstract::Necrobiosis lipoidica (NL) is a rare granulomatous disease that predominantly affects middle-aged women and is often associated with diabetes mellitus (DM), rheumatoid arthritis (RA) and other metabolic disorders. Thalassemias are the most common hereditary hemoglobin (Hb) disorders worldwide. A few studies investigat...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2020.1783287
更新日期:2020-05-01 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::Over many years, cases of suspected α-globin chain variants were collected from different parts of the UK. The suspicion was based on the clinical picture, high performance liquid chromatography (HPLC) variant percentage, retention time (RT) and isoelectric focusing (IEF). DNA sequencing and the restriction enzyme Eae...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2020.1783288
更新日期:2020-05-01 00:00:00