A new ATRX mutation in a patient with acquired α-thalassemia myelodysplastic syndrome.

abstract：:In order to determine the prevalence of thalassemia and hemoglobinopathies in different regions of northeast (NE) Thailand and Vientiane, Laos People's Democratic Republic (PDR), a total of 1,809 blood samples were collected consecutively from individuals attending antenatal care services at 11 community hospitals in ...

journal_title：Hemoglobin

authors： Tritipsombut J,Sanchaisuriya K,Phollarp P,Bouakhasith D,Sanchaisuriya P,Fucharoen G,Fucharoen S,Schelp FP

更新日期：2012-01-01 00:00:00

abstract：:The identification of α-thalassemia (α-thal) due to point mutations has been increasing significantly with the advancement of molecular diagnostic tools. We describe here the molecular and cellular characteristics of the thalassemia mutation HBA2:c.94A>C, a novel point mutation affecting the α2-globin gene, causing a ...

journal_title：Hemoglobin

authors： Qadah T,Finlayson J,Newbound C,Pell N,Pascoe M,Greenwood L,Holmes P,Grey D,Beilby J,Ghassemifar R

更新日期：2012-01-01 00:00:00

abstract：:We describe two novel α2 gene mutations that result in an altered amino acid sequence. In case 1, the α2 stop codon was mutated from TAA > TTA (HBA2: c.428A > T), resulting in an α2 protein chain extension of 31 amino acids. The new hemoglobin (Hb) variant was named Hb Kinshasa for the place of origin of the patient. ...

journal_title：Hemoglobin

authors： Saller E,Dutly F,Frischknecht H

更新日期：2015-01-01 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

authors： Juul MB,Vestergaard H,Petersen J,Frederiksen H

更新日期：2012-01-01 00:00:00

abstract：:Oxidative stress is considered to be the main cause for several chronic diseases including diabetes. Through hyperglycemia, hyperlipidemia, hypertension and possible iron dyshomeostasis, diabetes induces oxidative stress that causes damage to multiple organs, leading to various complications. Therefore, antioxidant th...

journal_title：Hemoglobin

authors： Wei W,Liu Q,Tan Y,Liu L,Li X,Cai L

更新日期：2009-01-01 00:00:00

abstract：:There are four copy numbers of α-globin genes (16p13.3) in the human genome and the number of defective α-globin genes dictates the severity of α-thalassemia (α-thal). Mutations that occur in the 3' untranslated region (3'UTR), and especially at the polyadenylation (polyA) sites, affect the translation, stability and ...

journal_title：Hemoglobin

authors： Forouzesh Pour F,Karimi K,Ghaderi Z,Tavakoli Koudehi A,Najmabadi H

更新日期：2020-11-01 00:00:00

abstract：:A review is presented of the various beta-thalassemia alleles observed in nearly 191 patients with beta-thalassemia major and their 182 heterozygous relatives. Determination was by gene amplification and dot-blot hybridization with synthetic probes, specific for 27 different mutations. Eighteen mutations have been obs...

journal_title：Hemoglobin

authors： Oner R,Altay C,Gurgey A,Aksoy M,Kilinç Y,Stoming TA,Reese AL,Kutlar A,Kutlar F,Huisman TH

更新日期：1990-01-01 00:00:00

abstract：:In this study, we describe the clinical features and provide experimental analyses of a novel point mutation affecting the penultimate nucleotide of the first exon of the HBA2 (HBA2: c.94A > G) gene identified in a 26-year-old female who also carries a heterozygous Hb E (HBB: c.79G > A) variant. The aim of the study w...

journal_title：Hemoglobin

authors： Qadah T,Finlayson J,Joly P,Ghassemifar R

更新日期：2014-01-01 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

authors： Hardy MJ,Ragbeer MS

更新日期：1985-01-01 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

authors： Seltzer WK,Abshire TC,Lane PA,Roloff JS,Githens JH

更新日期：1992-01-01 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

authors： Hattori Y,Kutlar F,Mosley CJ,Mayson SM,Huisman TH

更新日期：1986-01-01 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

authors： Li D,Liao C,Li J,Xie X,Zhong H

更新日期：2008-01-01 00:00:00

abstract：:Mutations that cause destabilization of the hemoglobin (Hb) tetramer are a rare cause of hemolytic anemia. In contrast to the hemolytic anemia caused by enzyme deficiencies, a dominant mode of inheritance characterizes the unstable Hbs. Hb Alesha [β67(E11)Val→Met; HBB: c.202G>A] is caused by a G>A mutation at codon 67...

journal_title：Hemoglobin

authors： Jiang H,Yan JM,Zhou JY,Li DZ

更新日期：2016-11-01 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

authors： van Gammeren AJ,Pelkmans L,Endschot CCWV,Roelofsen-de Beer RJAC,Harteveld CL

更新日期：2020-01-01 00:00:00

abstract：:Two new families with red cell pyrimidine 5'-nucleotidase (P5N) deficiencies were found in Japan. The enzyme activities were 4.8% in case 1 and 9.7% in case 2. The propositi showed characteristic hemolytic anemia with market basophilic stippling, increased reduced glutathione content and accumulation of pyrimidine nuc...

journal_title：Hemoglobin

authors： Ishida Y,Fujii H,Miwa S

更新日期：1980-01-01 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

authors： Ebrahimkhani S,Azarkeivan A,Bayat N,Houry-Parvin M,Jalil-Nejad S,Zand S,Golkar Z,Hadavi V,Imanian H,Oberkanins C,Najmabadi H

更新日期：2011-01-01 00:00:00

abstract：:β-Thalassemia (β-thal) is an inherited blood disorder characterized by reduced or absent synthesis of the β chains of hemoglobin (Hb). Although a number of causative mutations have been reported, here we report two novel mutations detected in Chinese patients. Red blood cell (RBC) indices were indicative of β-thal, bu...

journal_title：Hemoglobin

authors： Wang W,Wang Q,Tao T,Sun A,Ruan C,Chen S

更新日期：2015-01-01 00:00:00

abstract：:Building on the pioneering efforts of Professor Huisman, several different databases of hemoglobin variants have been developed, each with progressively increased capacity for sophisticated queries and prompt updating. These resources are reviewed in the context of a larger plan for providing related resources on hemo...

journal_title：Hemoglobin

authors： Hardison RC,Chui DH,Riemer C,Giardine B,Lehväslaiho H,Wajcman H,Miller W

更新日期：2001-05-01 00:00:00

abstract：:Renal dysfunction in sickle cell disease is not only a chronic comorbidity but also a mortality risk factor. Though renal dysfunction starts early in life in sickle cell patients, the predictors that can identify sickle cell disease patients at risk of developing renal dysfunction is not known. We used the Truven Heal...

journal_title：Hemoglobin

authors： Yeruva SL,Paul Y,Oneal P,Nouraie M

更新日期：2016-09-01 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

authors： Yeh SP,Yang YS,Yao CY,Peng CT

更新日期：2009-01-01 00:00:00

abstract：:We report the spectrum of β-thalassemia (β-thal) mutations observed in a cohort of at-risk couples, who presented for prenatal diagnosis at the Thalassemia, Hemophilia and Prenatal Diagnosis Genetic Research Center, Shiraz Medical University, Fars, Iran, from March 2001 to April 2002. Using polymerase chain reaction-a...

journal_title：Hemoglobin

authors： Rahiminejad MS,Zeinali S,Afrasiabi A,Valeshabad AK

更新日期：2011-01-01 00:00:00

abstract：:The limitations of current therapies for the treatment of iron overload or radioisotope contamination have stimulated efforts to develop new orally bioavailable iron and actinide chelators. Siderophore-inspired tetradentate, hexadentate and octadentate terephthalamidate and hydroxypyridonate ligands were evaluated in ...

journal_title：Hemoglobin

authors： Abergel RJ,Raymond KN

更新日期：2011-01-01 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

authors： Giordano PC,Zweegman S,Akkermans N,Arkesteijn SG,van Delft P,Versteegh FG,Wajcman H,Harteveld CL

更新日期：2007-01-01 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

authors： Obaid JM,Abo El-Nazar SY,Ghanem AM,El-Hadidi AS,Mersal BH

更新日期：2015-01-01 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

authors： Kontoghiorghes GJ

更新日期：2011-01-01 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

authors： Harteveld CL,Van Delft P,Akkermans N,Arkesteijn S,Van Rooijen-Nijdam IH,Kok PJ,Versteegh FG,Giordano PC

更新日期：2004-08-01 00:00:00

abstract：:We report the molecular and hematological characteristics of two rare hemoglobin (Hb) variants found in associations with a common α(0)-thalassemia (α(0)-thal) in Thai patients. The first case (P1) was a generally healthy 27-year-old man discovered during our ongoing thalassemia screening program. Hemoglobin and DNA a...

journal_title：Hemoglobin

authors： Singha K,Srivorakun H,Fucharoen G,Changtrakul Y,Komwilaisak P,Jetsrisuparb A,Puangplruk R,Fucharoen S

更新日期：2013-01-01 00:00:00

abstract：:The city of Detroit has a large population of individuals with sickle cell disease, and hospitals in Detroit have seen some of the highest numbers of cases of coronavirus disease-19 (COVID-19) in 2020. The purpose of this study was to examine the pathophysiological characteristics of COVID-19 in patients with sickle c...

journal_title：Hemoglobin

authors： Balanchivadze N,Kudirka AA,Askar S,Almadhoun K,Kuriakose P,Fadel R,Dabak V

更新日期：2020-07-01 00:00:00

abstract：:Hb F levels in beta-thalassemia heterozygotes are usually less than 2%, but amongst 1,059 patients studied, 73 (7%) had Hb F levels above 2.5% (2.6-14.0%). To investigate factors that may influence the increase of Hb F levels in these heterozygotes, we characterized the beta-thalassemia mutations and their chromosomal...

journal_title：Hemoglobin

authors： Vrettou C,Kanavakis E,Traeger-Synodinos J,Metaxotou-Mavrommati A,Basiakos I,Maragoudaki E,Stamoulakatou A,Papassotiriou I,Kattamis C

更新日期：2000-08-01 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

authors： Baudin-Chich V,Wajcman H,Gombaud-Saintonge G,Arous N,Riou J,Brière J,Galacteros F

更新日期：1988-01-01 00:00:00