Association of Hb Thailand [α56(E5)Lys→Thr] and Hb Phnom Penh [α117(GH5)-Ile-α118(H1)] with α(0)-thalassemia: molecular and hematological features and differential diagnosis.

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：:New gold standard protocols are tested for the complete removal of iron overload in thalassemia using the International Committee on Chelation (ICOC) Maintaining Normal Body Iron combination protocol therapy of deferiprone (L1)/deferoxamine (DFO) and maintenance of normal range body iron store levels (NRBISL) using L1...

journal_title：Hemoglobin

authors： Kolnagou A,Kontoghiorghes GJ

更新日期：2010-06-01 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：: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：:Patients with the β0/β0 type of β-thalassemia (β-thal) usually present as β-thal major (β-TM), and are transfusion-dependent. However, the clinical and hematological features of β-thal can be modulated by different modifiers, resulting in a wide range of clinical severity even in patients with the same genotypes. We r...

journal_title：Hemoglobin

authors： Xie XM,Liu YN,Li J,Jiang F,Li DZ

更新日期：2019-03-01 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：: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：: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：: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：: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：: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：:Over many years, cases of suspected α-globin chain variants were collected from different parts of the UK. The suspicion was based on the clinical picture, high performance liquid chromatography (HPLC) variant percentage, retention time (RT) and isoelectric focusing (IEF). DNA sequencing and the restriction enzyme Eae...

journal_title：Hemoglobin

authors： Khalil MSM,Timbs AT,Henderson SJ,Schuh A,El-Khawanky MM,Old JM

更新日期：2020-05-01 00:00:00

abstract：:The capillary electrophoresis (CE) system allows the quantification of Hb Bart's (γ4) and Hb H (β4) that is used for screening of Hb H disease. However, Hb Bart's hydrops fetalis and Hb H are not always codetected in patients with Hb H disease. In this study, 35 samples were analyzed for the α0-thalassemia (α0-thal) [...

journal_title：Hemoglobin

authors： Khongthai K,Ruengdit C,Panyasai S,Pornprasert S

更新日期：2019-01-01 00:00:00

abstract：:The aim of this study was to evaluate the clinical, biological and genetic factors that could be associated with the use and dose of morphine during hospitalization for vaso-occlussive crisis (VOC) in adults with sickle cell disease. Ninety-nine hospitalizations for acute VOC (58 sickle cell disease patients aged 18 t...

journal_title：Hemoglobin

authors： Sabrie M,Cannas G,Tazarourte K,Poutrel S,Connes P,Hot A,Renoux C,Fattoum J,Joly P

更新日期：2018-07-01 00:00:00

abstract：:A new unstable hemoglobin (Hb) variant, named Hb Aalesund, was detected during Hb A1c measurement in a patient with a nearly compensated hemolytic anemia. Sequencing of the α-globin genes revealed a 7 bp deletion in exon 3 of the HBA2 gene (HBA2: c.400_406delAGCACCG) (NM_000517.4) causing a frameshift and a premature ...

journal_title：Hemoglobin

authors： Grimholt RM,Fjeld B,Selsås H,Schwettmann L,Klingenberg O

更新日期：2019-03-01 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

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：: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：: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：: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：: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：:The human fetal globin genes are highly similar at the DNA sequence level, resulting in a single amino acid difference between the (G)γ- and (A)γ-globin chains. A large proportion of hemoglobin (Hb) variants of the (G)γ- and (A)γ-globin chains result from an identical mutation in the HBG2 and HBG1 genes, respectively,...

journal_title：Hemoglobin

authors： Papachatzopoulou A,Patrinos GP

更新日期：2011-01-01 00:00:00

abstract：:We report the identification of two different mutations involving the first nucleotide of intron 1 of the alpha2-globin gene: IVS-I-1 G-->A and G-->T. The available data indicated that both mutations reduce the efficiency of proper mRNA splicing, resulting in alpha(+)-thalassemia (alpha(+)-thal). ...

journal_title：Hemoglobin

authors： Waye JS,Eng B,Dutly F,Frischknecht H

更新日期：2009-01-01 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：:Hb S [β6(A3)Glu→Val, GAG>GTG] is a β-globin gene variant that has a very low incidence in the Thai population. Coinheritance of Hb S and β(0)-thalassemia (β-thal) can result in severe clinical conditions. This study reports the case of a Thai patient with a compound heterozygosity for Hb S and β(0)-thal codon 17 (A>T)...

journal_title：Hemoglobin

authors： Pornprasert S,Panyasai S,Kongthai K,Treesuwan K

更新日期：2012-01-01 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 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 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：: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：: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