Effects of combined deferiprone and deferoxamine chelation therapy on iron load indices in beta-thalassemia.

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：: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：:Hb Hammersmith [β42(CD1)Phe → Ser; HBB: c.128T > C] is a rare, unstable hemoglobin (Hb) variant. In this case report, we describe another male case of Hb Hammersmith. A 39-year-old male had hemolytic anemia, cyanosis and splenomegaly since 6 months after birth. He passed the disease allele to his daughter, a 3-year-ol...

journal_title：Hemoglobin

authors： Li R,Wang T,Xie XM,Li DZ

更新日期：2014-01-01 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：:Unstable hemoglobin (Hb) variants represent a rare etiology of congenital hemolytic anemia. Correct diagnosis can be a challenge due to the relative rarity or lack of awareness of this disorder. We report an 18-month-old girl, who presented with a long-standing hemolytic anemia. Her diagnosis of unstable Hb Perth [β32...

journal_title：Hemoglobin

authors： Jiang H,Yan JM,Li J,Xie XM,Li DZ

更新日期：2016-06-01 00:00:00

abstract：:Despite estimated high prevalence of inherited hemoglobin (Hb) disorders among tribal populations in Madhya Pradesh State, India, the burden of disease is unknown, leading to high morbidity and associated mortality. Our aim was to screen tribal populations in designated tribal districts of Madhya Pradesh State for var...

journal_title：Hemoglobin

authors： Chourasia S,Kumar R,Singh MPSS,Vishwakarma C,Gupta AK,Shanmugam R

更新日期：2020-11-01 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：:Acquired α-thalassemia (α-thal) myelodysplastic syndrome (ATMDS) is a rare acquired syndrome characterized by a somatic point mutation in the ATRX gene in patients with chronic myeloid disorders. We describe the case of a 78-year-old man with myelodysplastic syndrome (MDS) and striking microcytic, hypochromic anemia. ...

journal_title：Hemoglobin

authors： Herbaux C,Badens C,Guidez S,Lacoste C,Maboudou P,Rose C

更新日期：2012-01-01 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：:A new electrophoretically silent, unstable hemoglobin was discovered in a Japanese family. Isolation of the abnormal chain and chemical analyses demonstrated a previously unreported amino acid substitution, alpha 59[E8] glycine replaced by Valine. The new variant has been named Hb Tottori. ...

journal_title：Hemoglobin

authors： Nakatsuji T,Miwa S,Ohba Y,Miyaji T,Matsumoto N,Matsuoka I

更新日期：1981-01-01 00:00:00

abstract：:Tyr35β is located at the convergence of the α1β1, α1β2 and α1α2 interfaces of Hb A. We here report a Chinese family in whom the codon 35 (A > G) (HBB: c.107A > G) mutation of the β-globin gene was not associated with the thalassemic phenotype previously described. ...

journal_title：Hemoglobin

authors： Wu MY,Li DZ

更新日期：2016-01-01 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：:The use of rivaroxaban in patients with hemoglobinopathies and thrombotic events has not been studied extensively. Here we present eight cases of such patients, five receiving rivaroxaban for stroke and systemic embolism prevention due to non-valvular atrial fibrillation and three for deep vein thrombosis treatment. T...

journal_title：Hemoglobin

authors： Apostolou C,Klonizakis P,Mainou M,Kapsali E,Kafantari K,Kotsiafti A,Vetsiou E,Vakalopoulou S,Vlachaki E

更新日期：2017-05-01 00:00:00

abstract：:A third case of Hb J Iran is reported. The propositus is of Russian-Armenian origin and was investigated for hematuria. The electrophoretic behavior and the characterization of primary structure are described. Hb J Iran is stable and has normal functional properties. High resolution Nuclear Magnetic Resonance spectra ...

journal_title：Hemoglobin

authors： Delanoe-Garin J,Rhoda MD,Craescu CT,Bardakjian J,Blouquit Y,Lacombe C,Arous N,Poyart C,Ganeval D,Girot R

更新日期：1986-01-01 00:00:00

abstract：:The restriction endonuclease map of the alpha and beta globin genomic region of the new human erythroleukemia line, HEL, was compared with that of normal human DNA. The HEL line, which produces mainly fetal (G gamma and A gamma) but no adult (delta and beta) globin chains, was shown to have the same pattern of DNA fra...

journal_title：Hemoglobin

authors： Mueller RF,Murray JC,Gelinas R,Farquhar M,Papayannopoulou T

更新日期：1983-01-01 00:00:00

abstract：:We report a novel hemoglobin (Hb) variant that we named Hb Fulton-Georgia, caused by a point mutation in exon 1/codon 20 of the α-globin gene [α20(B1)His→Pro; HBA1: c.62A>C]. This α chain variant was identified in an adult African-American female with Hb SC disease who was also heterozygous for the α-thalassemia-2 (α-...

journal_title：Hemoglobin

authors： Zhuang L,Patel N,Bryant S,Kutlar A,Kutlar F,Young AN

更新日期：2013-01-01 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：: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：: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：:Hemoglobin Brisbane is a new hemoglobin variant which produces a mile erythrocytosis. It is not detectable by electrophoresis at pH 8.6 or by isoelectric focusing but it is mildly unstable and gives a positive result with standard stability tests. The new hemoglobin has increased oxygen affinity and reduced co-operati...

journal_title：Hemoglobin

authors： Brennan SO,Wells RM,Smith H,Carrell RW

更新日期：1981-01-01 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：: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：:We describe a novel compound heterozygous genotype which consists of two point mutations named Hb Adana (HBA1: c.179G>A) and codon 127 (HBA2: c.382A>T) in a Kurdish family with two girls affected with severe α-thalassemia (α-thal). Both patients (the proband and her sister) had a history of splenectomy during childhoo...

journal_title：Hemoglobin

authors： Azimi A,Tahmasebi S,Moradi K,Nejati P,Alibakhshi R

更新日期：2020-03-01 00:00:00

abstract：:We describe a Chinese patient who was heterozygous for both Hb Q-Thailand [alpha74(EF3)Asp-->His] and Hb E [beta26(B7)Gly-->Asp, GAG-->GTG]. Interaction of the alpha(Q-Thailand) and beta(E) chains leads to a hemoglobin (Hb) variant, namely Hb QE, which differs in electrophoretic mobility and high performance liquid ch...

journal_title：Hemoglobin

authors： Li D,Liao C,Li J,Xie X,Zhong H

更新日期：2008-01-01 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：:We report the spectrum of β-thalassemia (β-thal) mutations observed in a cohort of at-risk couples, who presented for prenatal diagnosis at the Thalassemia, Hemophilia and Prenatal Diagnosis Genetic Research Center, Shiraz Medical University, Fars, Iran, from March 2001 to April 2002. Using polymerase chain reaction-a...

journal_title：Hemoglobin

authors： Rahiminejad MS,Zeinali S,Afrasiabi A,Valeshabad AK

更新日期：2011-01-01 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：:We report a large novel α-globin cluster deletion that we named - -PG (NG_000006.1: g.93628_542759del450131), in a Chinese family. This large deletion is approximately 450 kb long, spanning from upstream of the PolR3k gene at the 5' end to the RAB11FIP3 gene at the 3' end of chromosome 16p13.3. This deletion removes a...

journal_title：Hemoglobin

authors： He S,Qin Q,Huang P,Zhang S,Yi S,Lin L,Zuo Y,Chen Q,Deng J,Zheng C,Chen B

更新日期：2017-01-01 00:00:00

abstract：:High oxygen affinity hemoglobins (Hbs), characterized by a decreased ability to release oxygen to the tissues and a left-shifted oxygen dissociation curve, are a rare cause of secondary erythrocytosis. Here, we report a base substitution in the β-globin gene at codon 89 (AGT>AGG) in a kindred with familial erythrocyto...

journal_title：Hemoglobin

authors： Shomali W,Brar R,Arekapudi SR,Gotlib JR

更新日期：2019-01-01 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