A new hemoglobin variant: Hb Dagestan alpha 60(E9) Lys leads to Glu.

abstract：:The hemoglobin (Hb) pattern of a 32-year-old Somali male living in The Netherlands, during routine diabetes mellitus monitoring, showed two more peaks in addition to the characteristic heterozygous Hb A/S pattern. A major peak of 15% faster than Hb A, and a minor one of 10.8%, overlapping Hb A2 and the glycated Hb S1c...

journal_title：Hemoglobin

authors： Harteveld CL,Van Delft P,Akkermans N,Arkesteijn S,Van Rooijen-Nijdam IH,Kok PJ,Versteegh FG,Giordano PC

更新日期：2004-08-01 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：:Many patients with sickle cell disease receive blood transfusions as a life-saving treatment. However, excess transfusions may lead to increased body iron burden. Specifically, heart failure due to cardiac iron overload is the leading cause of death in these patients. The purpose of this study was to investigate the p...

journal_title：Hemoglobin

authors： Ibrahim el-SH,Rana FN,Johnson KR,White RD

更新日期：2012-01-01 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：: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：: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：: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：:Epidemiological studies and experimental data suggest iron involvement in atherosclerosis. The relation between iron and atherosclerosis is complex and remains contradictory. In thalassemia patients, non transferrin bound iron (NTBI) and free hemoglobin (Hb) are present in plasma and may accelerate atherogenesis, but ...

journal_title：Hemoglobin

authors： Marx JJ,Kartikasari AE,Georgiou NA

更新日期：2008-01-01 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：:Toto is one of the smallest tribes in the world. This primitive sub Himalayan, endogamous tribe lives in a small, isolated village called Totopara in the Jalpaiguri district of West Bengal in India. The tribal communities of West Bengal are vulnerable to various genetic disorders such as β-thalassemia (β-thal). We hav...

journal_title：Hemoglobin

authors： Bhattacharyya D,Mukhopadhyay A,Chakraborty A,Dasgupta S,Mukhopadhyay S,Pal N,Basak J

更新日期：2013-01-01 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：:The problem of spinal cord compression (SCC) related to extramedullary hematopoiesis (EMH) in beta-thalassemia (beta-thal) patients, both clinically and radiologically and its correlation with laboratory parameters of anemia and hemosiderosis was assessed. Sixty beta-thal patients were included and divided into group ...

journal_title：Hemoglobin

authors： Tantawy AA,Adly AA,Mahdy SA,Kamel GZ

更新日期：2009-01-01 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：: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：: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：: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：:We describe a case of beta-thalassemia (thal) trait in which the patient also carries a novel delta chain variant due to a missense mutation at amino acid codon 13 (GCC-->GAC, Ala-->Asp). The level of Hb A2 was not elevated, raising the potential for misdiagnosis. ...

journal_title：Hemoglobin

authors： Walker L,Patterson M,Eng B,McFarlane A,Waye JS

更新日期：2005-01-01 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：:A total of 218 beta-thalassemia (thal) genes from 109 beta-thal major patients were characterized using an automated fluorescence DNA sequencing technique. Eight different mutations were identified in all 218 alleles (100%). Four common mutations accounted for 96.8% [49.5% were codons 41/42 (-TTCT), 34.4% were codon 1...

journal_title：Hemoglobin

authors： Sirichotiyakul S,Saetung R,Sanguansermsri T

更新日期：2003-05-01 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：: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：:A new beta-hemoglobin (Hb) variant, Hb Stockholm [beta7(A4)GluAsp], is described. The variant was characterized by mass spectrometry and DNA sequencing. The new variant is clinically silent but interferes with Hb A(1c) quantification using ion exchange chromatography, causing a falsely low Hb A(1c) level when using th...

journal_title：Hemoglobin

authors： Bergman AC,Beshara S,Byman I,Karim R,Landin B

更新日期：2009-01-01 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：:Hb Val de Marne [alpha 133(H16)Ser-->Arg] was found in a French family during a neonatal hemoglobinopathy screening program. The abnormal hemoglobin was found, within a few months interval, in two newborn children who were first cousins. In the children as well as in the parents carrying this hemoglobin variant, the r...

journal_title：Hemoglobin

authors： Wajcman H,Kister J,M'Rad A,Marden MC,Riou J,Galacteros F

更新日期：1993-10-01 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：:We present the case of a child in whom beta-thalassemia (thal) major was apparently caused by homozygosity for a 4-base deletion mutation [codons 41/42 (-TTCT)] of the beta-globin gene. However, the mutation was not identified in the father. The presence of a deletional beta-thal was detected by long-range polymerase ...

journal_title：Hemoglobin

authors： Liao C,Feng Q,Li J,Huang Y,Li D

更新日期：2007-01-01 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：: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：:To study effects of ionizing radiation on apoptosis induction in leukocytes of alpha-thalassemia (alpha-thal) variants compared to normal controls, venous blood samples were obtained from 10 healthy volunteers and 30 alpha-thal patients. Different types alpha-thal were diagnosed by multiplex polymerase chain reaction ...

journal_title：Hemoglobin

authors： Tarang A,Mozdarani H,Akbari MT

更新日期：2009-01-01 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