Hb Val de Marne [alpha 133(H16)Ser-->Arg]: a new hemoglobin variant with moderate increase in oxygen affinity.

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

authors： Al Sulaiman A,Suliman A,Al Mishari M,Al Sawadi A,Owaidah TM

更新日期：2008-01-01 00:00:00

abstract：:Globin subunits may be elongated because of a base substitution in the termination codon, a crossover out of phase (frame shift) or a crossover in phase. This review presents structural, genetic, biosynthetic and clinical information on the eight variants having elongated chains which have been described to date. ...

journal_title：Hemoglobin

authors： Bunn HF

更新日期：1978-01-01 00:00:00

abstract：:We report four cases of compound heterozygotes for Hb S (HBB: c.20A>T) and a rare β0-thalassemia (β0-thal) mutation, Hb Westdale (HBB: c.380_396delTGCAGGCTGCCTATCAG), characterized by a 17 bp deletion between codons 126 to 131 in exon 3 of the β-globin gene of human hemoglobin (Hb) confirmed by direct β-globin gene se...

journal_title：Hemoglobin

authors： Dehury S,Meher S,Patel S,Das K,Jana A,Bhattacharya S,Sahoo S,Sarkar B,Mohanty PK

更新日期：2019-03-01 00:00:00

abstract：:Iron is an essential component in the structure of certain molecules such as hemoglobin (Hb), myoglobin, cytochrome C and some enzymes. The iron gateway to cells is transferrin receptor (TfR). Soluble transferrin receptor (sTfR) is a product of the TfR that circulates in plasma, its concentration therefore, is proport...

journal_title：Hemoglobin

authors： Khatami S,Dehnabeh SR,Mostafavi E,Kamalzadeh N,Yaghmaei P,Saeedi P,Shariat F,Bagheriyan H,Zeinali S,Akbari MT

更新日期：2013-01-01 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 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：:Despite the milder clinical severity of Hb H patients compared with those of Hb Bart's hydrops fetalis or patients with β-thalassemia major (β-TM), a few cases of Hb H hydrops fetalis syndrome have been reported so far. Here, we describe, for the first time in the Chinese population, one case of a neonate with Hb H hy...

journal_title：Hemoglobin

authors： Li Q,Li Y,Zhong M,Zhang VW,Jin W,Li S,Li L

更新日期：2018-07-01 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：: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：:The molecular basis of the thalassemias has been studied in many of the world's populations. Here we report the results of the first screening for mutations in Vietnam. Twenty-three unrelated patients, of which 17 have Hb E/beta-thalassemia, were diagnosed and beta-globin mutations were detected in all 46 chromosomes....

journal_title：Hemoglobin

authors： Filon D,Oppenheim A,Rachmilewitz EA,Kot R,Truc DB

更新日期：2000-05-01 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：:Raised Hb F is occasionally found in stress erythropoiesis associated with hemolytic anemias. In hereditary spherocytosis (HS), elevation of Hb F by 2-5% may be seen but Hb F in the range of 10-20% has not been reported. We present an interesting case of a child, initially presenting with high Hb F, who showed a spont...

journal_title：Hemoglobin

authors： Kar R,Saxena R,Pati HP

更新日期：2008-01-01 00:00:00

abstract：:Sickle cell disease is an inherited hemoglobinopathy associated with significant morbidity and mortality. Reports suggest a high sickle cell disease burden among the indigenous Tharu population of Nepal, who for centuries have inhabited regions where malaria is endemic. Unfortunately, health care resources are limited...

journal_title：Hemoglobin

authors： Marchand M,Gill C,Malhotra AK,Bell C,Busto E,McKeown MD,Cherukupalli A,Yeo J,Arnold B,Kapoor V

更新日期：2017-01-01 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：:Hb Puttelange [beta 140(H18)Ala-->Val] was found in a 51-year-old Italian man who had mild polycythemia. The variant eluted from ion exchange high performance liquid chromatography at a position between Hb A and Hb A2. It comprised approximately 34% of the total hemoglobin, was weakly unstable and exhibited an increas...

journal_title：Hemoglobin

authors： Galanello R,Paleari R,Perseu L,Barella S,Maccioni L,Cao A,Mulas G,Cocco E,Mosca A

更新日期：1997-01-01 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：: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：: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：:In this report we describe a case of Hb H disease due to the interaction of the --(MED 1) deletion with a new alpha(+)-thalassemia determinant. The molecular analysis of the proband's genomic DNA was carried out by polymerase chain reaction amplification and sequencing of both alpha genes of the alpha(+)-thalassemia c...

journal_title：Hemoglobin

authors： Traeger-Synodinos J,Harteveld CL,Kanavakis E,Giordano PC,Kattamis C,Bernini LF

更新日期：1999-11-01 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

authors： Kumar R,Sharma DC,Kishor P

更新日期：2012-01-01 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：: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：:Unstable hemoglobin (Hb) variants represent a rare etiology of congenital hemolytic anemia. Correct diagnosis can be a challenge due to the relative rarity or lack of awareness of this disorder. We report an 18-month-old girl, who presented with a long-standing hemolytic anemia. Her diagnosis of unstable Hb Perth [β32...

journal_title：Hemoglobin

authors： Jiang H,Yan JM,Li J,Xie XM,Li DZ

更新日期：2016-06-01 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：:This paper summarizes the results on the epidemiology and molecular basis of thalassemias and other hemoglobinopathies in the Republic of Macedonia. Over the past 40 years, population surveys of more than 22,000 participants (school children and workers) from all over the country, have shown that the average incidence...

journal_title：Hemoglobin

authors： Efremov GD

更新日期：2007-01-01 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：: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：: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：:We report a case of a 43-year-old woman, affected by human immunodeficiency virus (HIV) and beta-thalassemia major (beta-TM), adequately treated with antiretroviral and transfusion-chelation therapy, that develops progressive right ventricular dysfunction due to severe pulmonary arterial hypertension (PAH), in absence...

journal_title：Hemoglobin

authors： Derchi G,Lai ME,Marcaccini P,Carta MP,Vacquer S

更新日期：2010-01-01 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