Maternal complications and the association with baseline variables in pregnant women with sickle cell disease.

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：: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：: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：: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：: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 7-year old boy presented with a history of recurrent respiratory infections and hypochromic microcytic anemia. Iron profiles were normal thereby prompting genetic analysis of α- and β-globin mutations. The first mutation in a BRE motif of the β-globin gene in the proband, sibling and the mother was identified. The p...

journal_title：Hemoglobin

authors： Inati A,Abbas HA,Al-Danaf J,Souaid M,Kahale M,Koussa S,Abou Nasr T,Davis L,Luo HY,Chui DH

更新日期：2013-01-01 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：:Mutations that cause destabilization of the hemoglobin (Hb) tetramer are a rare cause of hemolytic anemia. In contrast to the hemolytic anemia caused by enzyme deficiencies, a dominant mode of inheritance characterizes the unstable Hbs. Hb Alesha [β67(E11)Val→Met; HBB: c.202G>A] is caused by a G>A mutation at codon 67...

journal_title：Hemoglobin

authors： Jiang H,Yan JM,Zhou JY,Li DZ

更新日期：2016-11-01 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：:Hb Constant Spring (Hb CS), the gene (alpha(CS)) of which arises from a point mutation in the termination codon of the alpha2-globin gene, is the most prevalent variety of nondeletional alpha-thalassemia (alpha-thal) in Asian populations. It is a major cause of Hb H disease in compound heterozygotes who have Hb CS com...

journal_title：Hemoglobin

authors： Ne-Win,Harano K,Harano T,Kyaw-Shwe,Aye-Aye-Myint,Khin-Thander-Aye,Okada S

更新日期：2008-01-01 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：:α-Thalassemia (α-thal) is assumed to be very prevalent in Bangladesh. We aimed to assess the prevalence of the disease in the country and provide a model for α-thal newborn screening in Bangladesh. We collected umbilical cord blood (UCB) samples from 413 unrelated newborns in Bangladesh. Demographic information, blood...

journal_title：Hemoglobin

authors： Anwar S,Taslem Mourosi J,Hasan MK,Hosen MJ,Miah MF

更新日期：2020-05-01 00:00:00

abstract：:Genetic screening is an important tool to control, minimize, and prevent genetic disorders. Saudi Arabia started the first national premarital screening (PMS) program to control inherited hemoglobin (Hb) disorders that are the most commonly inherited genetic disorders in the Kingdom of Saudi Arabia. The aim of this st...

journal_title：Hemoglobin

authors： Al Sulaiman A,Suliman A,Al Mishari M,Al Sawadi A,Owaidah TM

更新日期：2008-01-01 00:00:00

abstract：:This study concerns the molecular characterization of beta-thalassemia (beta-thal) alleles in 210 chromosomes. In the studied population, mutations were detected in 98% of the beta-thalassemic chromosomes. Twenty-one molecular defects have been found, where the five dominant mutations, IVS-I-110 (G>A), nonsense mutati...

journal_title：Hemoglobin

authors： Boudrahem-Addour N,Zidani N,Carion N,Labie D,Belhani M,Beldjord C

更新日期：2009-01-01 00:00:00

abstract：:In this report we describe a case of Hb H disease due to the interaction of the --(MED 1) deletion with a new alpha(+)-thalassemia determinant. The molecular analysis of the proband's genomic DNA was carried out by polymerase chain reaction amplification and sequencing of both alpha genes of the alpha(+)-thalassemia c...

journal_title：Hemoglobin

authors： Traeger-Synodinos J,Harteveld CL,Kanavakis E,Giordano PC,Kattamis C,Bernini LF

更新日期：1999-11-01 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：: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：:Patients with unstable hemoglobin (Hb), caused by a qualitative abnormality in α- and β-globin genes, are often asymptomatic or mildly symptomatic. It is often difficult to diagnose unstable Hb patients with only mild hemolysis or low oxygen saturation. We herein report a case of a family with an unstable Hb, specific...

journal_title：Hemoglobin

authors： Sakamoto A,Nakadate H,Tada K,Yamashiro Y,Ishiguro A

更新日期：2020-01-01 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：: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 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：: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：: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：:Population surveys performed in different Brazilian ethnic groups, and comprising 23,606 subjects, disclosed, besides the common S and D types, hemoglobins G and Por to Alegre, as well as high F, A'2 and an apparently unstable A2 variant. Additional studies on isolated families revealed the occurrence of hemoglobins I...

journal_title：Hemoglobin

authors： Salzano FM,Tondo CV

更新日期：1982-01-01 00:00:00

abstract：:Recently, five genetic modifiers [β-globin mutations, coinheritance of α-thalassemia (α-thal), XmnI polymorphism and single nucleotide polymorphisms (SNPs) in the BCL11A and HBS1L-MYB loci] were used to predict the β-thal major (β-TM) or β-thal intermedia (β-TI) types in 106 French patients with 83.2% accuracy. The di...

journal_title：Hemoglobin

authors： Banan M,Bayat H,Namdar-Aligoodarzi P,Azarkeivan A,Kamali K,Daneshmand P,Zaker-Kandjani B,Najmabadi H

更新日期：2013-01-01 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：:Analysis of DNA polymorphic sites is an important tool for the detection of gene flow in human evolutionary studies and to study the genetic background for gene mutations. The beta-globin locus contains several single-base restriction fragment length polymorphism (RFLP) sites throughout chromosome 11. In addition to t...

journal_title：Hemoglobin

authors： Martins JT,Bordin S,de Albuquerque DM,Saad ST,Costa FF

更新日期：2005-01-01 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：:The minor components of Hb Bart's were separated by CM-cellulose chromatography, reverse-phase HPLC, and DEAE-cellulose chromatography. These were characterized by amino acid analysis, tryptic peptide analysis by HPLC, electrophoresis, and carbohydrate and phosphate analysis. Acetylated and glycated components of Hb B...

journal_title：Hemoglobin

authors： Abraham EC,Abraham A,Kasten-Jolly J

更新日期：1987-01-01 00:00:00

abstract：:Codon 14 (+T) (HBB: c.44_45insT) is a very rare β-thalassemia (β-thal) mutation previously reported in three β-thal major (β-TM) patients of Azerbaijani origin. None of the previous reports described the genotype-phenotype correlation of the mutation. We here report the first case of homozygous codon 14 together with ...

journal_title：Hemoglobin

authors： Aliyeva G,Asadov C,Mammadova T,Musayev S,Abdulalimov E,Gafarova S,Guliyeva Y

更新日期：2018-07-01 00:00:00