abstract：:This report describes the first case in Spain of a severe form of beta-thalassemia (thal) due to a compound heterozygosity for the IVS-II-848 (C --> A) and the nonsense codon 39 (C --> T) mutations. Five members of a family from Cadiz (southern Spain) were studied. The proband was an 8-year-old girl diagnosed as anemi...

journal_title：Hemoglobin

authors： Ropero P,Villegas A,Muñoz J,Briceño O,Mora A,Salvador M,Polo M,González FA

更新日期：2006-01-01 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：: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：: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：: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：: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：: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：:In sheep carrying simultaneously extra alpha-globin genes (triplications and quadruplications) and two alpha-chain allelic variants, a gradient of decreasing expression of the downstream genes was previously reported. We show here that in these sheep the proportions of the normal and variant Hbs reflect not only the p...

journal_title：Hemoglobin

authors： Vestri R,Massa A

更新日期：2004-05-01 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：: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：:Common alpha-thalassemia (thal) rearrangements were studied in a normal random population and in six ethnic groups of Pakistan. Analyses of 204 individuals from the normal population revealed the presence of only the -alpha(3.7) allele with an overall frequency of 8.3%. Ethnic differences were statistically significan...

journal_title：Hemoglobin

authors： Khan SN,Hasan F,Sollaino C,Perseu L,Riazuddin S

更新日期：2003-08-01 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：: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：:Alpha-Thalassemia (thal) is generally considered to be an expression defect caused mostly by deletions silencing one or more alpha-globin genes. Although nondeletional alpha-thalassemia is considered rare, in our laboratory we frequently observe alpha-thal phenotypes induced by point mutations. We report a new point m...

journal_title：Hemoglobin

authors： Harteveld CL,van Delft P,Plug R,Versteegh FG,Hagen B,van Rooijen I,Kok PJ,Wajcman H,Kister J,Giordano PC

更新日期：2002-08-01 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 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：:This work compiles the results of our research on alpha- and beta-thalassemias, and includes a literature review of the molecular genetics of alpha- and beta-thalassemias in Spain. We studied 1,564 subjects with thalassemia (294 with beta-thalassemia and 1,264 with alpha-thalassemia) by molecular biology techniques. I...

journal_title：Hemoglobin

authors： Villegas A,Ropero P,González FA,Anguita E,Espinós D

更新日期：2001-08-01 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 Mont Saint-Aignan [beta128(H6)Ala-->Pro] is a mildly unstable variant, associated with hemolytic anemia, marked microcytosis and increased alpha/beta biosynthetic ratio (1.55 versus 1.1 +/- 0.1 in the control). The abnormal chain was isolated by selective precipitation with isopropanol and the structural modificati...

journal_title：Hemoglobin

authors： Wajcman H,Lahary A,Promé D,Kister J,Riou J,Godart C,Préhu C,Traeger-Synodinos J,Papassotiriou I,Galactéros F

更新日期：2001-02-01 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：: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：:This study concerns the determination of beta-thalassemia alleles and other hemoglobin variants in 82 patients from Syria. We have characterized 146 chromosomes and found 17 different beta-thalassemia mutations, and one beta-globin chain variant that gives rise to the abnormal Hb S. The eight most common beta-thalasse...

journal_title：Hemoglobin

authors： Kyriacou K,Al Quobaili F,Pavlou E,Christopoulos G,Ioannou P,Kleanthous M

更新日期：2000-02-01 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：: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：:The Ggamma:Agamma ratio is around 70:30 at the time of birth and usually 40:60 in the trace amounts of Hb F found in the adult. Changes in this ratio are observed in several hemoglobin disorders providing insights on the genetics and molecular pathophysiology of these diseases. Several techniques have been proposed to...

journal_title：Hemoglobin

authors： Papassotiriou I,Ducrocq R,Préhu C,Bardakdjian-Michau J,Wajcman H

更新日期：1998-09-01 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：: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：:We studied two members of an African American family with erythrocytosis. An abnormal hemoglobin variant with an electrophoretic pattern on cellulose acetate similar to Hb J was identified. The oxygen dissociation curve using whole blood was biphasic, dramatically left-shifted, and hyperbolic. Sequence analysis of DNA...

journal_title：Hemoglobin

authors： Kattamis AC,Kelly KM,Ohene-Frempong K,Reilly MP,Keller M,Cubeddu R,Adachi K,Surrey S,Fortina P

更新日期：1997-03-01 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：: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：:We have identified and quantitated the different types of mRNA in single BFU-E derived colonies from Hb S and Hb Atlanta [beta 75 (E19)Leu-->Pro] heterozygotes and observed that the normal and mutated mRNAs were present in equal quantities. Similar studies for the different protein products gave less accurate data bec...

journal_title：Hemoglobin

authors： Smetanina NS,Gu LH,Rodriguez Romero WE,Howard EF,Huisman TH

更新日期：1996-08-01 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：: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：:We have used the diaminofluorene stain to detect hemoglobin production in J2E cells following erythropoietin-induced differentiation. The pseudo-peroxidase activity of hemoglobin produces a colored product, fluorene blue, which can be measured spectrophotometrically. We found that the absorbance varied with time and c...

journal_title：Hemoglobin

authors： Callus BA,Busfield SJ,Klinken SP

更新日期：1995-01-01 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：:We have identified through sequencing of amplified DNA a GCC-->GAC mutation in codon 115 of the beta-globin gene in a mother and daughter of a small Czech family. This base change was confirmed by hybridization with a 32P-labeled specific oligonucleotide probe and by gene mapping because it creates a new Ava II site. ...

journal_title：Hemoglobin

authors： Divoky V,Svobodova M,Indrak K,Chrobak L,Molchanova TP,Huisman TH

更新日期：1993-08-01 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 detected Hb D-Los Angeles [beta 121(GH4)Glu-->Gln], the most common hemoglobin variant after Hb S and Hb Lepore-Boston, in six unrelated families in Southern Italy. Ten patients were studied; eight patients were heterozygotes and two were compound heterozygotes for the hemoglobin variant and the beta-thalassemia co...

journal_title：Hemoglobin

authors： Fioretti G,De Angioletti M,Pagano L,Lacerra G,Viola A,de Bonis C,Scarallo A,Carestia C

更新日期：1993-02-01 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：:Two abnormal hemoglobins were accidentally detected by cation exchange high performance liquid chromatography with the Diamat system of Bio-Rad Laboratories; the variants eluted together with the fast-moving Hb A1c. Structural analysis of isolated beta chains and sequence analysis of amplified DNA identified a new var...

journal_title：Hemoglobin

authors： Liu JS,Molchanova TP,Gu LH,Wilson JB,Hopmeier P,Schnedl W,Balaun E,Krejs GJ,Huisman TH

更新日期：1992-01-01 00:00:00