Hemoglobin Windsor or beta 11 (A8)Val----Asp: a new unstable beta-chain hemoglobin variant producing a hemolytic anemia.

abstract：:β-Thalassemia (β-thal) is the most frequently observed hereditary blood disorder that results from genetic defects causing deficient synthesis of hemoglobin (Hb) polypeptide chains. Detecting thalassemia mutations are necessary for prenatal diagnosis (PND) programs leading a better quality of life for the patients, as...

journal_title：Hemoglobin

authors： Azimi A,Nejati P,Tahmasebi S,Alimoradi S,Alibakhshi R

更新日期：2019-01-01 00:00:00

abstract：:Two kinds of 3-hydroxypyridine-2(1H)-thiones were synthesized. The visible (VIS) spectroscopic analysis indicated that 3-hydroxy-1-methylpyridine-2(1H)-thione (4a) and 3-hydroxy-1-(2-hydroxyethyl)pyridine-2(1H)-thione (4b) formed stable 3:1 Fe(III) complexes. The stability constant of the 4b-Fe(III) complex was estima...

journal_title：Hemoglobin

authors： Katoh A,Harada K,Saito R

更新日期：2006-01-01 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：: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：: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

authors： Cürük MA

更新日期：2007-01-01 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：: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

authors： Pornprasert S,Sukunthamala K,Sacome J,Phusua A,Saetung R,Sanguansermsri T,Leechanachai P

更新日期：2008-01-01 00:00:00

abstract：:A 7-year old boy presented with a history of recurrent respiratory infections and hypochromic microcytic anemia. Iron profiles were normal thereby prompting genetic analysis of α- and β-globin mutations. The first mutation in a BRE motif of the β-globin gene in the proband, sibling and the mother was identified. The p...

journal_title：Hemoglobin

authors： Inati A,Abbas HA,Al-Danaf J,Souaid M,Kahale M,Koussa S,Abou Nasr T,Davis L,Luo HY,Chui DH

更新日期：2013-01-01 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：: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：: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

authors： Ballas SK,Files B,Luchtman-Jones L,Benjamin L,Swerdlow P,Hilliard L,Coates T,Abboud M,Wojtowicz-Praga S,Kuypers FA,Michael Grindel J

更新日期：2006-01-01 00:00:00

abstract：:The detection, quantitation, and characterization of five relatively rare beta chain abnormal hemoglobins mainly by high performance liquid chromatographic procedures are described. The variants involved are Hb City of Hope (beta 69 Gly----Ser), Hb Austin (beta 40 Arg----Ser), Hb Leiden (beta 6 or 7 Glu----0), Hb Loui...

journal_title：Hemoglobin

authors： Wilson JB,Chen SS,Webber BB,Kutlar A,Kutlar F,Villegas A,Huisman TH

更新日期：1986-01-01 00:00:00

abstract：:A novel hemoglobin (Hb) variant was found in a specimen that showed an unusual profile in analyses of glycohemoglobin An abnormal beta-globin, 443 Da smaller than normal beta-globin, was detected by electrospray ionization mass spectrometry (ESI/MS) with intact globin. Mass spectrometry analysis of tryptic peptides de...

journal_title：Hemoglobin

authors： Miyazaki A,Nakanishi T,Shimizu A,Mizobuchi M,Yamada Y,Imai K

更新日期：2005-01-01 00:00:00

abstract：:The effects of 2, 3-diphosphoglyceric acid (2, 3-DPG), adenosine triphosphate (ATP), inositol tetraphosphate (ITP), inositol pentaphosphate (IPP), and inositol hexaphosphate (IHP) on oxygen affinity of whole stripped hemoglobin (WSH), hemoglobin H (Hb-H; hatching hemoglobin), hemoglobin A (Hb-A), and hemoglobin D (Hb-...

journal_title：Hemoglobin

authors： Isaacks RE,Harkness DR,Goldman PH,Adler JL,Kim CY

更新日期：1977-01-01 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

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：: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：: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：: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：:We report a novel mutation at alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG), that we have named Hb Dartmouth for the medical center at which the patients were cared for, in monozygotic twins who also inherited the Southeast Asian alpha-thalassemia-1 deletion. The mother, of Khmer ancestry, is heterozygous for alpha-thala...

journal_title：Hemoglobin

authors： McBride KL,Snow K,Kubik KS,Fairbanks VF,Hoyer JD,Fairweather RB,Chaffee S,Edwards WH

更新日期：2001-11-01 00:00:00

abstract：:A new electrophoretically silent, unstable hemoglobin was discovered in a Japanese family. Isolation of the abnormal chain and chemical analyses demonstrated a previously unreported amino acid substitution, alpha 59[E8] glycine replaced by Valine. The new variant has been named Hb Tottori. ...

journal_title：Hemoglobin

authors： Nakatsuji T,Miwa S,Ohba Y,Miyaji T,Matsumoto N,Matsuoka I

更新日期：1981-01-01 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 Rancho Mirage was detected in a 17-year-old male in association with a mild anemia. Hemoglobin electrophoresis revealed the variant had a mobility between Hbs A and J on cellulose acetate (pH 8.6) and a mobility like Hb F on citrate agar (pH 6.4). A substitution of His----Asp was found at position 143 in the beta c...

journal_title：Hemoglobin

authors： Moo-Penn WF,Hine TK,Johnson MH,Jue DL,Holland S,George S,Pierce AM,Michalski LA,McDonald MJ

更新日期：1992-01-01 00:00:00

abstract：:The recognition of sickle cell disease as a chronic vasculopathy characterized by endothelial injury has led to new insights into complex biological processes and offers the potential for novel pharmacological treatments. Endothelial injury has been related to impaired nitric oxide (NO) homeostasis, inflammation, oxid...

journal_title：Hemoglobin

authors： Hoppe CC

更新日期：2011-01-01 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：:We describe a high oxygen affinity hemoglobin (Hb) variant (Hb Vanderbilt) as a result of a heterozygous novel base change from T to A at codon 89 (AGT>AGA) leading to an amino acid change from serine to arginine. ...

journal_title：Hemoglobin

authors： Goodyer MJ,Elhassadi EI,Percy MJ,McMullin MF

更新日期：2011-01-01 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：:Hb D-Punjab [β121(GH4)Glu→Gln] is prevalent in the northern states of the Indian subcontinent. Due to inadequate data from Asian countries, the origin and spread of the Hb D-Punjab mutation are uncertain. In a study of sickle cell hemoglobinopathies, we detected the Hb D-Punjab mutation in 25 subjects from 11 unrelate...

journal_title：Hemoglobin

authors： Patel DK,Mashon RS,Patel S,Dash PM,Das BS

更新日期：2010-01-01 00:00:00

abstract：:α-Thalassemia (α-thal) is a very common single gene hereditary disease caused by large deletions or point mutations of the α-globin gene cluster in tropical and subtropical regions of the world. Here, we report for the first time, a novel large α-thal deletion in a Chinese family from Jiangsu Province, People's Republ...

journal_title：Hemoglobin

authors： Cao J,He S,Pu Y,Liu J,Liu F,Feng J

更新日期：2017-01-01 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