Hemoglobin Brest [beta 127 (H5)Gln----Lys] a new unstable human hemoglobin variant located at the alpha 1 beta 1 interface with specific electrophoretic behavior.

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

authors： Martins JT,Bordin S,de Albuquerque DM,Saad ST,Costa FF

更新日期：2005-01-01 00:00:00

abstract：:Almost 3 million babies were tested in a newborn screening program in Minas Gerais, Brazil (1998-2008); 128 who have S-like hemoglobins (Hbs) were tested for the β(S) allele and 112 were identified through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) or sequencing. Hb Stanleyville-II [...

journal_title：Hemoglobin

authors： Silva MR,Sendin SM,Pimentel FS,Velloso-Rodrigues C,Romanha ÁJ,Viana MB

更新日期：2012-01-01 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

authors： Huang H,Xu L,Lin N,Xu J,He D,Li Y,Zheng L,Liu H,Lin Y

更新日期：2010-01-01 00:00:00

abstract：:We report a novel hemoglobin (Hb) variant that we named Hb Fulton-Georgia, caused by a point mutation in exon 1/codon 20 of the α-globin gene [α20(B1)His→Pro; HBA1: c.62A>C]. This α chain variant was identified in an adult African-American female with Hb SC disease who was also heterozygous for the α-thalassemia-2 (α-...

journal_title：Hemoglobin

authors： Zhuang L,Patel N,Bryant S,Kutlar A,Kutlar F,Young AN

更新日期：2013-01-01 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

authors： Patrinos GP,Grosveld FG

更新日期：2008-01-01 00:00:00

abstract：:A chromatographic procedure for the separation of human globin chains is described. This method uses CM-Sepharose CL-6B as ion-exchanger and NaCl gradients formed in sodium phosphate buffers containing urea and 0.05M mercaptoethanol to elute the chains. One advantage of this system is that a column, once packed, may b...

journal_title：Hemoglobin

authors： Sparham SJ,Huehns ER

更新日期：1979-01-01 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：:Low bone mass, a major cause of morbidity in patients with β-thalassemia major (β-TM), is multifactorial. There is lack of data about the current prevalence of low bone mass in patients with β-TM. The aims of this study are to examine the current prevalence of low bone mass in β-TM patients and the association between...

journal_title：Hemoglobin

authors： Tzoulis P,Ang AL,Shah FT,Berovic M,Prescott E,Jones R,Barnard M

更新日期：2014-01-01 00:00:00

abstract：:Hb Val de Marne [alpha 133(H16)Ser-->Arg] was found in a French family during a neonatal hemoglobinopathy screening program. The abnormal hemoglobin was found, within a few months interval, in two newborn children who were first cousins. In the children as well as in the parents carrying this hemoglobin variant, the r...

journal_title：Hemoglobin

authors： Wajcman H,Kister J,M'Rad A,Marden MC,Riou J,Galacteros F

更新日期：1993-10-01 00:00:00

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

authors： Wu KH,Chang JG,Ho YJ,Wu SF,Peng CT

更新日期：2006-01-01 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 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

authors： Harteveld CL,Pissard S,Korver AM,Riou J,Legac E,Lansbergen G,Pardijs IL,Giordano PC,Versteegh FG

更新日期：2016-09-01 00:00:00

abstract：:A 22 year old American negro with mild anemia was found to be triply heterozygous for hemoglobin S, hemoglobin O Arab and alpha thalassemia. Hemoglobin A was not detected in the subject's hemolysate. The alpha thalassemia gene was expressed by an alpha/non-alpha synthesis ratio of 0.71 plus or minus 0.07 and was equal...

journal_title：Hemoglobin

authors： Ballas SK,Atwater J,Burka ER

更新日期：1977-01-01 00:00:00

abstract：:The aim of this study was to demonstrate the performance of nondeletional α-thalassemia (α-thal) prevention using a reverse dot-blot method at a Mainland Chinese hospital. A prenatal control program for nondeletional Hb H disease was performed between January 2009 and December 2013. All couples were screened for α-tha...

journal_title：Hemoglobin

authors： Li J,Li R,Li DZ

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

authors： Braga LB,Ferreira AC,Guimarães M,Nazário C,Pacheco P,Miranda A,Picanço I,Seixas T,Rosado L,Amaral JM

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

authors： Hojas-Bernal R,McNab-Martin P,Fairbanks VF,Holmes MW,Hoyer JD,McCormick DJ,Kubik KS

更新日期：1999-05-01 00:00:00

abstract：:Recently, five genetic modifiers [β-globin mutations, coinheritance of α-thalassemia (α-thal), XmnI polymorphism and single nucleotide polymorphisms (SNPs) in the BCL11A and HBS1L-MYB loci] were used to predict the β-thal major (β-TM) or β-thal intermedia (β-TI) types in 106 French patients with 83.2% accuracy. The di...

journal_title：Hemoglobin

authors： Banan M,Bayat H,Namdar-Aligoodarzi P,Azarkeivan A,Kamali K,Daneshmand P,Zaker-Kandjani B,Najmabadi H

更新日期：2013-01-01 00:00:00

abstract：:We present the characterization of the molecular spectrum and frequency data of alpha-thal (thal) defects in Tunisia, and an evaluation of the efficacy and limitations of Hb Bart's (gamma4) measurement for the screening of alpha-thal at birth. Cord blood samples were collected from two different areas: the northeast o...

journal_title：Hemoglobin

authors： Zorai A,Harteveld CL,Bakir A,Van Delft P,Falfoul A,Dellagi K,Abbes S,Giordano PC

更新日期：2002-11-01 00:00:00

abstract：:Hb Uxbridge [beta 20(B2)Val-->Gly] was found in an English family during a neonatal hemoglobinopathy screening program. In both the child and the parent carrying this hemoglobin variant, the red cell parameters were normal. By isoelectrofocusing Hb Uxbridge appeared to have an isoelectric point slightly higher than Hb...

journal_title：Hemoglobin

authors： Wajcman H,Promé D,Kister J,Davies SC,Galactéros F,Henthorn JS

更新日期：1996-11-01 00:00:00

abstract：:Sickle cell disease presents a great clinical variability that remains largely misunderstood. New disease protective genetic modifiers acting mainly through an increased Hb F level have recently been described. We studied relations between clinical and hematological phenotypes and known sickle cell disease genetic mod...

journal_title：Hemoglobin

authors： Muszlak M,Pissard S,Badens C,Chamouine A,Maillard O,Thuret I

更新日期：2015-01-01 00:00:00

abstract：:The present study aimed at differentiating rare types of heterozygous beta-thalassemia (thal) with normal Hb A(2) values from alpha-thal in Iranian carriers by globin chain synthesis in addition to other hematological parameters. Our study groups consisted of 51 normal subjects, 24 heterozygous beta- thalassemic subje...

journal_title：Hemoglobin

authors： Khatami S,Dehboneh SR,Sadeghi S,Mirzazadeh R,Saeedi P,Bayat P,Najmabadi H,Zeinali S,Akbari MT,Ardjmand M,Amirkhani A

更新日期：2007-01-01 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

authors： Vetsiou E,Mpouras V,Nikolaidou C,Klonizakis P,Mandala E,Vamvakis K,Psarras K,Vlachaki E

更新日期：2020-05-01 00:00:00

abstract：:We studied the structural environment surrounding the beta-N-terminal glycation site of a hemoglobin (Hb) molecule in which the proline residue at beta5(A2) was substituted by alanine in silico. By computer analysis that used Protein Data Bank data (PDB ID: 1BZ0), we tried to clarify the reason for impaired glycation ...

journal_title：Hemoglobin

authors： Ito S,Nakahari T,Yamamoto D

更新日期：2010-01-01 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

authors： Weinberg RS,Acosta R,Knobloch ME,Garber M,Alter BP

更新日期：1995-09-01 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

authors： Mueller RF,Murray JC,Gelinas R,Farquhar M,Papayannopoulou T

更新日期：1983-01-01 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：:We have identified a deletion of 125 bp (α-α(Δ125)) (NG_000006.1: g.37040_37164del) in the α-globin gene cluster in a Kabyle population. A combination of singlex and multiplex polymerase chain reaction (PCR)-based assays have been used to identify the molecular defect. Sequencing of the abnormal PCR amplification prod...

journal_title：Hemoglobin

authors： Singh AR,Lacan P,Cadet E,Bignet P,Dumesnil C,Vannier JP,Joly P,Rochette J

更新日期：2016-01-01 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

authors： Bergman AC,Beshara S,Byman I,Karim R,Landin B

更新日期：2009-01-01 00:00:00

abstract：:α-Thalassemia (α-thal), a genetic disease characterized by microcytosis, hypochromia and anemia, is predominantly caused by deletions of the α-globin genes, HBA2 and HBA1. In this study, we describe a novel 31.1 kb α-thal deletion, - -MEX3 (NC_000016.10: g.151479_182582del), observed in a Mexican family, probably orig...

journal_title：Hemoglobin

authors： Rentería-López VM,Perea-Díaz FJ,Rizo-delaTorre LC,Sánchez-López JY,Ibarra-Cortés B

更新日期：2017-05-01 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

authors： Al-Farsi SH,Al-Riyami NM,Al-Khabori MK,Al-Hunaini MN

更新日期：2013-01-01 00:00:00