Case report: prenatal diagnosis of Hb Hammersmith [β42(CD1)Phe→Ser; HBB: c.128T > C] in a family with an adult male patient.

abstract：:To study effects of ionizing radiation on apoptosis induction in leukocytes of alpha-thalassemia (alpha-thal) variants compared to normal controls, venous blood samples were obtained from 10 healthy volunteers and 30 alpha-thal patients. Different types alpha-thal were diagnosed by multiplex polymerase chain reaction ...

journal_title：Hemoglobin

authors： Tarang A,Mozdarani H,Akbari MT

更新日期：2009-01-01 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

abstract：:A system of calculating relative mobilities of mutant hemoglobins and globin chains in four methods of zone electrophoresis is described. In electrophoresis on cellulose acetate, TEB buffer, pH 8.5, mobilities are calculated as ratios of the mobility of simultaneously analyzed Hb C. In electrophoresis on citrate agar,...

journal_title：Hemoglobin

authors： Schneider RG,Barwick RC

更新日期：1978-01-01 00:00:00

abstract：:The surface plasmon resonance (SPR) approach, being a relatively novel biophysical method, is used to detect many different targets by biomolecular interaction. The SPR system uses optical and evanescent wave phenomenon. This approach does not need any labels, such as enzymes or isotopes, and the monitored interaction...

journal_title：Hemoglobin

authors： Atalay EO,Ustel E,Yildiz S,Atalay A

更新日期：2006-01-01 00:00:00

abstract：:α-Thalassemia (α-thal) is usually caused by deletions on the α-globin gene cluster and the role of point mutations is less well investigated. In the present study, a total of 1048 individuals with hypochromic microcytic anemia, who did not present the most common α-thal deletions, were referred for α-globin gene DNA s...

journal_title：Hemoglobin

authors： Bayat N,Farashi S,Hafezi-Nejad N,Faramarzi N,Ashki M,Vakili S,Imanian H,Khosravi M,Azar-Keivan A,Najmabadi H

更新日期：2013-01-01 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：:A total of 218 beta-thalassemia (thal) genes from 109 beta-thal major patients were characterized using an automated fluorescence DNA sequencing technique. Eight different mutations were identified in all 218 alleles (100%). Four common mutations accounted for 96.8% [49.5% were codons 41/42 (-TTCT), 34.4% were codon 1...

journal_title：Hemoglobin

authors： Sirichotiyakul S,Saetung R,Sanguansermsri T

更新日期：2003-05-01 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：:This paper reports a new hemoglobin variant which was identified while investigating the cause of a mild erythrocytosis. The abnormal beta-globin chain was detected by reversed phase chromatography. Mutation mapping of the beta-globin gene by polymerase chain reaction and denaturing gradient gel electrophoresis follow...

journal_title：Hemoglobin

authors： Frischknecht H,Ventruto M,Hess D,Hunziker P,Rosatelli MC,Cao A,Breitenstein U,Fehr J,Tuchschmid P

更新日期：1996-02-01 00:00:00

abstract：:Codon 14 (+T) (HBB: c.44_45insT) is a very rare β-thalassemia (β-thal) mutation previously reported in three β-thal major (β-TM) patients of Azerbaijani origin. None of the previous reports described the genotype-phenotype correlation of the mutation. We here report the first case of homozygous codon 14 together with ...

journal_title：Hemoglobin

authors： Aliyeva G,Asadov C,Mammadova T,Musayev S,Abdulalimov E,Gafarova S,Guliyeva Y

更新日期：2018-07-01 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：:Hb Iowa is a rare hemoglobin (Hb) variant with a Gly --> Ala substitution at position 119 of beta-globin. It was previously reported only in an African American infant who was also heterozygous for Hb S [beta6(A3)Glu --> Val] and her mother (Hb A/Iowa). Here we describe the second report of Hb Iowa, the first in conju...

journal_title：Hemoglobin

authors： Somjee S,Yu LC,Hagar AF,Hempe JM

更新日期：2004-02-01 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：: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：: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：: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：: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：:Iran, as a country located in the Thalassemia Belt, has made great progress in thalassemia prevention and treatment. The thalassemia prevention program was implemented in 1995 and the country-wide thalassemia treatment network, consisting of 64 medical universities and faculties, is active. The acknowledgment of the s...

journal_title：Hemoglobin

authors： Hadipour Dehshal M,Tabrizi Namini M,Hantoushzadeh R,Yousefi Darestani S

更新日期：2019-05-01 00:00:00

abstract：:The minor components of Hb Bart's were separated by CM-cellulose chromatography, reverse-phase HPLC, and DEAE-cellulose chromatography. These were characterized by amino acid analysis, tryptic peptide analysis by HPLC, electrophoresis, and carbohydrate and phosphate analysis. Acetylated and glycated components of Hb B...

journal_title：Hemoglobin

authors： Abraham EC,Abraham A,Kasten-Jolly J

更新日期：1987-01-01 00:00:00

abstract：:The Dubai Thalassemia Center has identified 35 different beta-thalassemia mutations in 570 chromosomes from the United Arab Emirates population using gene amplification, hybridization with specific labeled oligonucleotide probes, sequencing of amplified DNA, restriction enzymes, and amplification refractory mutation s...

journal_title：Hemoglobin

authors： el-Kalla S,Mathews AR

更新日期：1997-05-01 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：: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：: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：: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：: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：: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：: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：: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：: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：: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