Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria.

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

abstract：:Tyr35β is located at the convergence of the α1β1, α1β2 and α1α2 interfaces of Hb A. We here report a Chinese family in whom the codon 35 (A > G) (HBB: c.107A > G) mutation of the β-globin gene was not associated with the thalassemic phenotype previously described. ...

journal_title：Hemoglobin

authors： Wu MY,Li DZ

更新日期：2016-01-01 00:00:00

abstract：:To assess the effects of combined vitamin therapy on oxidant-antioxidant hepatic status and hemoglobin (Hb) derivatives on β-thalassemia major (β-TM), a prospective study of 60 β-TM patients aged 4 to 17 years, was conducted. Thirty-nine patients with initial low serum vitamins E, C and A, were treated with oral combi...

journal_title：Hemoglobin

authors： Elalfy MS,Adly AA,Attia AA,Ibrahim FA,Mohammed AS,Sayed AM

更新日期：2013-01-01 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

authors： Forget BG,Cavallesco C,Benz EJ Jr,McClure PD,Hillman DG,Krieger H,Clarke B,Housman D

更新日期：1978-01-01 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：:We have analyzed the blood samples from seven members of two families that contained mixtures of different hemoglobin types due to the simultaneous presence of different beta chain variants and the alpha chain variant Hb G-Philadelphia. The methods used were isoelectrofocusing and cation exchange high performance liqu...

journal_title：Hemoglobin

authors： Kutlar F,Kutlar A,Nuguid E,Prchal J,Huisman TH

更新日期：1993-02-01 00:00:00

abstract：:We describe a case of beta-thalassemia (thal) trait in which the patient also carries a novel delta chain variant due to a missense mutation at amino acid codon 13 (GCC-->GAC, Ala-->Asp). The level of Hb A2 was not elevated, raising the potential for misdiagnosis. ...

journal_title：Hemoglobin

authors： Walker L,Patterson M,Eng B,McFarlane A,Waye JS

更新日期：2005-01-01 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

authors： Kolnagou A,Kontoghiorghes GJ

更新日期：2010-06-01 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：:An electrophoretically I-like hemoglobin variant was detected during a survey for abnormal hemoglobins in Dagestan (USSR). Neither clinical nor hematological abnormalities were seen in the carrier for this mutant hemoglobin. Structural studies demonstrated a previously undescribed substitution of alpha 60 (E9) Lys lea...

journal_title：Hemoglobin

authors： Spivak VA,Molchanova TP,Ermakov NV,Tokarev YuN,Martinez G,Szelenyi J,Horanyi M,Foldi J,Hollan S,Kazieva H,Shamov IA

更新日期：1981-01-01 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：: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 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

authors： Christopoulou G,Tserga A,Patrinos GP,Papadakis MN

更新日期：2004-01-01 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

authors： Brennan SO,Wells RM,Smith H,Carrell RW

更新日期：1981-01-01 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：: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

authors： Cui J,Azimi M,Adekile AD,Al Awadhi H,Hoppe CC

更新日期：2012-01-01 00:00:00

abstract：:Epidemiological studies and experimental data suggest iron involvement in atherosclerosis. The relation between iron and atherosclerosis is complex and remains contradictory. In thalassemia patients, non transferrin bound iron (NTBI) and free hemoglobin (Hb) are present in plasma and may accelerate atherogenesis, but ...

journal_title：Hemoglobin

authors： Marx JJ,Kartikasari AE,Georgiou NA

更新日期：2008-01-01 00:00:00

abstract：:Compromised quality of life (QoL) has been reported in individuals suffering from β-thalassemia major (β-TM) in Pakistan. However, insufficient data of its associated psychosocial, physical and other disease-related determinants is available. In an observational analytical study, 200 subjects aged between 5-25 years, ...

journal_title：Hemoglobin

authors： Yasmeen H,Hasnain S

更新日期：2018-01-01 00:00:00

abstract：:During the course of a screening program for beta-thalassemia mutations among beta-thalassemia heterozygotes in Yugoslavia we observed a mutation (ATG----ACG) in the initiation codon of the beta-globin gene which has not been described before. The abnormality was initially detected through mapping of the beta-globin g...

journal_title：Hemoglobin

authors： Jankovic L,Efremov GD,Josifovska O,Juricic D,Stoming TA,Kutlar A,Huisman TH

更新日期：1990-01-01 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：:Hb Les Andelys [alpha83(F4)Leu-->Pro] is a mildly unstable variant that was found during glycated hemoglobin measurement in a French family. In this hemoglobin molecule the affected site, in the alpha chain, and the amino acid substitution are identical to those of Hb Santa Ana, an unstable beta chain variant. The str...

journal_title：Hemoglobin

authors： Wajcman H,Promé D,Préhu C,Déon C,Riou J,Bouanga JC,Papassotiriou I,Lahary A,Galactéros F

更新日期：1998-03-01 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

authors： Li R,Wang T,Xie XM,Li DZ

更新日期：2014-01-01 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

authors： Khalil MSM,Timbs AT,Henderson SJ,Schuh A,El-Khawanky MM,Old JM

更新日期：2020-05-01 00:00:00

abstract：:Patients with the β0/β0 type of β-thalassemia (β-thal) usually present as β-thal major (β-TM), and are transfusion-dependent. However, the clinical and hematological features of β-thal can be modulated by different modifiers, resulting in a wide range of clinical severity even in patients with the same genotypes. We r...

journal_title：Hemoglobin

authors： Xie XM,Liu YN,Li J,Jiang F,Li DZ

更新日期：2019-03-01 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

authors： Ohba Y,Imai K,Kumada I,Ohsawa A,Miyaji T

更新日期：1989-01-01 00:00:00

abstract：:The amino acid sequences of the hemoglobin alpha- and beta-chains of raccoon have been determined by a combination of manual and automatic sequencing procedures. The raccoon beta-chain shows 16 amino acid differences from that of dog. The alpha chain shows 10 differences. These values are identical with those predicte...

journal_title：Hemoglobin

authors： Brimhall B,Stangland K,Jones RT,Becker RR,Bailey TJ

更新日期：1978-01-01 00:00:00

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 typical...

journal_title：Hemoglobin

authors： El-Latif MA,Filon D,Rund D,Oppenheim A,Kanaan M

更新日期：2002-02-01 00:00:00

abstract：:We report a novel frameshift mutation in exon 3 of the β-globin gene, that, in the heterozygous state, leads to a β-thalassemia intermedia (β-TI) phenotype (marked anemia, splenomegaly, hyperbilirubinemia, jaundice, unbalanced synthesis of α/non-α chains in a 34-year-old Italian woman. This frameshift mutation, due to...

journal_title：Hemoglobin

authors： Amato A,Cappabianca MP,Perri M,Zaghis I,Mastropietro F,Ponzini D,Di Biagio P,Piscitelli R

更新日期：2012-01-01 00:00:00

abstract：:The problem of spinal cord compression (SCC) related to extramedullary hematopoiesis (EMH) in beta-thalassemia (beta-thal) patients, both clinically and radiologically and its correlation with laboratory parameters of anemia and hemosiderosis was assessed. Sixty beta-thal patients were included and divided into group ...

journal_title：Hemoglobin

authors： Tantawy AA,Adly AA,Mahdy SA,Kamel GZ

更新日期：2009-01-01 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

authors： Abdaoui W,Benouareth DE,Djenouni A,Renoux C,Grifi F,Gouri A,Athamnia F,Benalioua M,Joly P

更新日期：2019-01-01 00:00:00