A new beta-chain variant: Hb stockholm [beta 7(A4)GluAsp] causes falsely low Hb A(1c).

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：:α-Thalassemia (α-thal) is usually caused by deletions on the α-globin gene cluster and the role of point mutations is less well investigated. In the present study, a total of 1048 individuals with hypochromic microcytic anemia, who did not present the most common α-thal deletions, were referred for α-globin gene DNA s...

journal_title：Hemoglobin

authors： Bayat N,Farashi S,Hafezi-Nejad N,Faramarzi N,Ashki M,Vakili S,Imanian H,Khosravi M,Azar-Keivan A,Najmabadi H

更新日期：2013-01-01 00:00:00

abstract：:α-Thalassemia (α-thal) is widely reported in the Arabian Peninsula as one of the main causes of asymptomatic microcytic hypochromic red blood cells with or without anemia in the pediatric population. This is the first study that provides information about the molecular basis of α-thal in the Qatari population. Qatari ...

journal_title：Hemoglobin

authors： Kamal M,Abu-Sirriya S,Abu-Dayya A,Al-Khatib H,Abu-Ramadan H,Petrou M,Amer A,Badii R,Kleanthous M

更新日期：2015-01-01 00:00:00

abstract：:In this study, 32 patients with Hb H (beta(4)) disease have been identified. Three different alpha-thalassemia-1 (thal) determinants; nine with the -17.4 kb (MED I) type, 12 with the -20.5 kb type and 10 with the -26.5 kb (MED II) type were characterized. Of the 32 patients, 19 had the 3.7 kb deletion and one had the ...

journal_title：Hemoglobin

authors： Cürük MA

更新日期：2007-01-01 00:00:00

abstract：:We report two families, members of which are carriers of a novel hemoglobin (Hb) variant that was named Hb Olivet [α13(A11)Ala→Thr (α1) (GCC > ACC); HBA1: c.40G > A; p.Ala14Thr]. The analysis of these cases allowed a clear description of this anomaly that behaves as a silent Hb. In the first family, of Portuguese ethn...

journal_title：Hemoglobin

authors： Harteveld CL,Pissard S,Korver AM,Riou J,Legac E,Lansbergen G,Pardijs IL,Giordano PC,Versteegh FG

更新日期：2016-09-01 00:00:00

abstract：:Globin chain synthesis and globin mRNA content were studied in blood cells of a patient homozygous for Hb Lepore. Peripheral blood cells incubated with tritiated leucine synthesized approximately 1.5 to 3% as many Lepore globin chains as alpha chains. Globin mRNA in peripheral blood cell RNA was assayed by molecular h...

journal_title：Hemoglobin

authors： Forget BG,Cavallesco C,Benz EJ Jr,McClure PD,Hillman DG,Krieger H,Clarke B,Housman D

更新日期：1978-01-01 00:00:00

abstract：:The aim of this study was to demonstrate the performance of nondeletional α-thalassemia (α-thal) prevention using a reverse dot-blot method at a Mainland Chinese hospital. A prenatal control program for nondeletional Hb H disease was performed between January 2009 and December 2013. All couples were screened for α-tha...

journal_title：Hemoglobin

authors： Li J,Li R,Li DZ

更新日期：2015-01-01 00:00:00

abstract：:A 22 year old American negro with mild anemia was found to be triply heterozygous for hemoglobin S, hemoglobin O Arab and alpha thalassemia. Hemoglobin A was not detected in the subject's hemolysate. The alpha thalassemia gene was expressed by an alpha/non-alpha synthesis ratio of 0.71 plus or minus 0.07 and was equal...

journal_title：Hemoglobin

authors： Ballas SK,Atwater J,Burka ER

更新日期：1977-01-01 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：: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：: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 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：:Our study aimed to determine the number of couples with normal hemoglobin (Hb) electrophoresis and low-borderline hematological values, which may come up with a clinically critical status in their offspring. The number of couples at risk for severe α-thalassemia (α-thal) needed to be estimated before recommending gene...

journal_title：Hemoglobin

authors： Hafezi-Nejad N,Khosravi M,Bayat N,Kariminejad A,Hadavi V,Oberkanins C,Azarkeivan A,Najmabadi H

更新日期：2014-01-01 00:00:00

abstract：:Hb D-Punjab [β121(GH4)Glu→Gln] is prevalent in the northern states of the Indian subcontinent. Due to inadequate data from Asian countries, the origin and spread of the Hb D-Punjab mutation are uncertain. In a study of sickle cell hemoglobinopathies, we detected the Hb D-Punjab mutation in 25 subjects from 11 unrelate...

journal_title：Hemoglobin

authors： Patel DK,Mashon RS,Patel S,Dash PM,Das BS

更新日期：2010-01-01 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：: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 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：: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：: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 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：: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 recently developed capability to separate and quantify each of several proteins concurrently in single red cells presents an opportunity to test for biological variations in intercellular distribution of a protein as well as the extent of correlation between quantities of gene products derived from a single cell g...

journal_title：Hemoglobin

authors： Anyaibe S,Castro O,Headings V

更新日期：1985-01-01 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 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：: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：:Globin subunits may be elongated because of a base substitution in the termination codon, a crossover out of phase (frame shift) or a crossover in phase. This review presents structural, genetic, biosynthetic and clinical information on the eight variants having elongated chains which have been described to date. ...

journal_title：Hemoglobin

authors： Bunn HF

更新日期：1978-01-01 00:00:00

abstract：:Chronic red blood cell (RBC) transfusion is employed for a wide range of sickle cell disease complications, ranging from primary and secondary stroke prophylaxis to prevention of painful vaso-occlusive episodes. Currently different methods are employed by centers for chronic transfusion that include simple, automated ...

journal_title：Hemoglobin

authors： Mian HS,Ward R,Telfer P,Kaya B,Kuo KH

更新日期：2015-01-01 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：: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

abstract：:β-Thalassemia (β-thal) is the most frequently observed hereditary blood disorder that results from genetic defects causing deficient synthesis of hemoglobin (Hb) polypeptide chains. Detecting thalassemia mutations are necessary for prenatal diagnosis (PND) programs leading a better quality of life for the patients, as...

journal_title：Hemoglobin

authors： Azimi A,Nejati P,Tahmasebi S,Alimoradi S,Alibakhshi R

更新日期：2019-01-01 00:00:00