Molecular and cellular characterization of a new α-thalassemia mutation (HBA2:c.94A>C) generating an alternative splice site and a premature stop codon.

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：: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：: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：:Guidelines for minimizing risks from alloimmunization, other transfusion reactions, and infection risks are presented based on the Thalassemia International Federation (TIF) guidelines. Future developments including pretreatment of the red cell product that may reduce infection risks are discussed. The rationale for g...

journal_title：Hemoglobin

authors： Porter J

更新日期：2009-01-01 00:00:00

abstract：:The city of Detroit has a large population of individuals with sickle cell disease, and hospitals in Detroit have seen some of the highest numbers of cases of coronavirus disease-19 (COVID-19) in 2020. The purpose of this study was to examine the pathophysiological characteristics of COVID-19 in patients with sickle c...

journal_title：Hemoglobin

authors： Balanchivadze N,Kudirka AA,Askar S,Almadhoun K,Kuriakose P,Fadel R,Dabak V

更新日期：2020-07-01 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：:An abnormal profile of cation exchange high performance liquid chromatography for the determination of Hb A1c led to the discovery of a new hemoglobin variant with a His----Tyr substitution at position 97(FG4) of the beta chain. The variant comprised about equal proportion to normal Hb A. It showed an increased oxygen...

journal_title：Hemoglobin

authors： Ohba Y,Imai K,Kumada I,Ohsawa A,Miyaji T

更新日期：1989-01-01 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：:Hb Taybe is a highly unstable hemoglobin (Hb) variant caused by a 3 bp deletion at codons 38/39 (-ACC) on the α1-globin gene. We report for the first time, a patient with a compound heterozygosity for Hb Taybe and a 5 bp deletion at the splice donor site of IVS-I on the α2-globin gene and ischemic stroke and priapism....

journal_title：Hemoglobin

authors： Juul MB,Vestergaard H,Petersen J,Frederiksen H

更新日期：2012-01-01 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：: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：:β-Thalassemia (β-thal), is an autosomal recessive disorder caused by mutations at the β gene locus. β-Thalassemia major (β-TM) is a severe form of the disease, characterized by severe hypochromic and hemolytic anemia with an increased need for transfusion. Hemolysis is caused by intoxication, whereas mechanical remova...

journal_title：Hemoglobin

authors： Obaid JM,Abo El-Nazar SY,Ghanem AM,El-Hadidi AS,Mersal BH

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：: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：:In this study we present the first report of the detection of a new β-thalassemia (β-thal) mutation at codon 36 (-C) in the Chinese population. This frameshift mutation generates a TGA stop codon at position 60, resulting in a thalassemia phenotype. This is the first example of a premature stop codon at position 60 be...

journal_title：Hemoglobin

authors： Huang H,Xu L,Lin N,Xu J,He D,Li Y,Zheng L,Liu H,Lin Y

更新日期：2010-01-01 00:00:00

abstract：:Homoserine, asparagine and glutamine do not restore the deformability of deoxygenated sickle cells in spite of noticeable morphological changes. These amino acids also do not raise the minimum gelling concentration of deoxyhemoglobin S. The use of these compounds as anti-sickling agents is therefore doubtful. ...

journal_title：Hemoglobin

authors： Shirahama K,Kubota S,Yang JT

更新日期：1980-01-01 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：: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：: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：: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：: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：: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：:Hemoglobin (Hb) disorders are common, potentially lethal monogenic diseases, posing a global health challenge. With worldwide migration and intermixing of carriers, demanding flexible health planning and patient care, hemoglobinopathies may serve as a paradigm for the use of electronic infrastructure tools in the coll...

journal_title：Hemoglobin

authors： Lederer CW,Basak AN,Aydinok Y,Christou S,El-Beshlawy A,Eleftheriou A,Fattoum S,Felice AE,Fibach E,Galanello R,Gambari R,Gavrila L,Giordano PC,Grosveld F,Hassapopoulou H,Hladka E,Kanavakis E,Locatelli F,Old J,Patrino

更新日期：2009-01-01 00:00:00

abstract：:Anti-Lepore hemoglobins (Hbs) are rare βδ fusion variants that arise from non homologous crossover during meiosis. We describe the application of multiplex ligation-dependent probe amplification (MLPA) to test for a suspected anti-Lepore Hb in an individual with an ambiguous Hb variant detected on routine screening by...

journal_title：Hemoglobin

authors： Cui J,Azimi M,Adekile AD,Al Awadhi H,Hoppe CC

更新日期：2012-01-01 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：:Sickle cell disease is an inherited hemoglobinopathy with multi system complications. It has been associated with multiple maternal complications. A retrospective review of 68 consecutive pregnant women with sickle cell disease, followed in a tertiary center, was conducted over 5 years, to estimate the incidence of di...

journal_title：Hemoglobin

authors： Al-Farsi SH,Al-Riyami NM,Al-Khabori MK,Al-Hunaini MN

更新日期：2013-01-01 00:00:00

abstract：:A severe hemolytic anemia with microcytosis and hypochromia was present in a young adopted Indian patient. Reversed phase high performance liquid chromatographic methodology and heat stability tests detected an unstable alpha chain which was present in 3 to 5% of the total hemoglobin. A larger quantity of the alpha X ...

journal_title：Hemoglobin

authors： Harkness M,Harkness DR,Kutlar F,Kutlar A,Wilson JB,Webber BB,Codrington JF,Huisman TH

更新日期：1990-01-01 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：:Hb-Alberta has been found in a 51 year old Caucasian male with erythrocytosis. The substitution in this variant involves the glutamyl residue in position 101(G3) of the beta chain which is replaced by a glycyl residue. Hb-Alberta accounts for about 45% in the heterozygote, and readily forms hybrid tetramers with other...

journal_title：Hemoglobin

authors： Mant MJ,Salkie ML,Cope N,Appling F,Bolch K,Jayalakshmi M,Gravely M,Wilson JB,Huisman TH

更新日期：1976-01-01 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