Analysis of Deletional Hb H Diseases in Samples with Hb A2-Hb H and Hb A2-Hb Bart's on Capillary Electrophoresis.

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：: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：:β-Thalassemia (β-thal) is one of the most common genetic disorders in Turkey. In this study, we investigated the mutations and frequency of β-thal at the molecular level in pediatric β-thal patients in the Çukurova region. The β-thal mutations of 52 cases were analyzed. An automated blood cell counter was used for hem...

journal_title：Hemoglobin

authors： Guzelgul F,Seydel GS,Aksoy K

更新日期：2020-07-01 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：:Red cell adenosine deaminase from normal subjects and from a patient with hereditary hemolytic anemia with a 40-fold increase in activity were purified using antibody affinity chromatography. The purified enzymes were completely homogeneous on sodium dodecyl sulfate-polyacrylamide gel electrophoresis. There were no di...

journal_title：Hemoglobin

authors： Fujii H,Miwa S,Suzuki K

更新日期：1980-01-01 00:00:00

abstract：:Chronic blood transfusions are necessary for patients with hereditary anemia such as thalassemia, and for patients with myelodysplastic syndrome (MDS) who become anemic and transfusion-dependent. A common consequence of chronic transfusion is iron accumulation that can lead to organ damage. While there is general agre...

journal_title：Hemoglobin

authors： Yeh SP,Yang YS,Yao CY,Peng CT

更新日期：2009-01-01 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：: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：:The identification of α-thalassemia (α-thal) due to point mutations has been increasing significantly with the advancement of molecular diagnostic tools. We describe here the molecular and cellular characteristics of the thalassemia mutation HBA2:c.94A>C, a novel point mutation affecting the α2-globin gene, causing a ...

journal_title：Hemoglobin

authors： Qadah T,Finlayson J,Newbound C,Pell N,Pascoe M,Greenwood L,Holmes P,Grey D,Beilby J,Ghassemifar R

更新日期：2012-01-01 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：:A fast-moving hemoglobin variant was found in five members of a Chinese family of the Wuming district. The relative amount of this alpha chain variant in the heterozygote was about 20%. The abnormality caused no ill effects in its carriers. Sequence analysis identified a Lys substituting for Gln substitution at positi...

journal_title：Hemoglobin

authors： Zeng YT,Huang SZ,Xu L,Long GF,Lam H,Wilson JB,Huisman TH

更新日期：1981-01-01 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：: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：: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：: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：:The rat globin gene system is suitable for studying a coordinated regulation of seven genes from two gene families. A rat reticulocyte cDNA globin library has been constructed and two clones analyzed in detail. pBRrg 5 contains alpha while pBRrg X contains beta type sequence. These cloned cDNAs will be useful probes o...

journal_title：Hemoglobin

authors： Crkvenjakov R,Bucan M,Konstantinovic M,Fogel M,Savic A,Glisin V

更新日期：1984-01-01 00:00:00

abstract：:The amino acid sequences of the hemoglobin alpha- and beta-chains of raccoon have been determined by a combination of manual and automatic sequencing procedures. The raccoon beta-chain shows 16 amino acid differences from that of dog. The alpha chain shows 10 differences. These values are identical with those predicte...

journal_title：Hemoglobin

authors： Brimhall B,Stangland K,Jones RT,Becker RR,Bailey TJ

更新日期：1978-01-01 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：: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：: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：:In Thailand alpha-thalassemia (thal), beta-thal, hemoglobin (Hb) E and Hb Constant Spring (Hb CS) are prevalent. The incidences are 20-30% for alpha-thal (3.5% for alpha-thal-1 and 16% for alpha-thal-2), 3-9% for beta-thal, up to 54% for Hb E and nearly 8% for Hb CS. Different combinations of these genes result in a s...

journal_title：Hemoglobin

authors： Fucharoen S,Winichagoon P,Thonglairuam V

更新日期：1988-01-01 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：:The high performance liquid chromatograms of the hemoglobins in a hemolysate show minor peaks on reversed phase columns in addition to the expected major peaks of the alpha, beta, and gamma chains. One of these had previously been identified as the delta chain. The material in the most prominent minor peak which is te...

journal_title：Hemoglobin

authors： Schroeder WA,Shelton JB,Huynh V,Shelton JR

更新日期：1986-01-01 00:00:00

abstract：:In a multicenter study (eight centers), we determined secretory phospholipase A(2) (sPLA(2)) levels in patients with sickle cell disease and acute chest syndrome (ACS). The diagnosis of ACS was made according to established criteria. The sPLA2 levels were determined in blood samples collected at baseline (time of diag...

journal_title：Hemoglobin

authors： Ballas SK,Files B,Luchtman-Jones L,Benjamin L,Swerdlow P,Hilliard L,Coates T,Abboud M,Wojtowicz-Praga S,Kuypers FA,Michael Grindel J

更新日期：2006-01-01 00:00:00

abstract：:α-Thalassemia (α-thal) is a common hemoglobinopathy mainly caused by deletion of one or both α-globin genes. We describe an autochthonous Belgian family diagnosed with α-thal trait. Molecular analysis revealed a novel large deletion of at least 170 kb between 226.68 kb (0.2 Mb) and 402.68 kb (0.4 Mb) from the telomere...

journal_title：Hemoglobin

authors： Heireman L,Luyckx A,Schynkel K,Dheedene A,Delaunoy M,Adam AS,Gulbis B,Dierick J

更新日期：2019-03-01 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：: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：: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：: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：:β-Thalassemia (β-thal) is an inherited blood disorder characterized by reduced or absent synthesis of the β chains of hemoglobin (Hb). Although a number of causative mutations have been reported, here we report two novel mutations detected in Chinese patients. Red blood cell (RBC) indices were indicative of β-thal, bu...

journal_title：Hemoglobin

authors： Wang W,Wang Q,Tao T,Sun A,Ruan C,Chen S

更新日期：2015-01-01 00:00:00