The use of globin chain electrophoresis in polyacrylamide gels for the quantitation of the G gamma to A gamma ratio in fetal hemoglobin.

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：: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：: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：: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：:Good adherence to iron chelation therapy in thalassemia is crucial. Although there is evidence that adherence is related to regimen factors, there has been less emphasis on the relationship between psychosocial (psychological, demographic and social) factors and adherence. We present a systematic review of psychosocia...

journal_title：Hemoglobin

authors： Evangeli M,Mughal K,Porter JB

更新日期：2010-06-01 00:00:00

abstract：:The aim of this study was to analyze the rare β-thalassemia (β-thal) mutations in the Pakistani population. A total of 8716 unrelated Pakistani individuals having children with transfusion-dependent thalassemia were investigated by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for the p...

journal_title：Hemoglobin

authors： Hussain A,Ahmed S,Ali N,S Mailk H,Anees M,Chuahdry AH,Ahmed P

更新日期：2017-03-01 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

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：: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：: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

abstract：:The detection, quantitation, and characterization of five relatively rare beta chain abnormal hemoglobins mainly by high performance liquid chromatographic procedures are described. The variants involved are Hb City of Hope (beta 69 Gly----Ser), Hb Austin (beta 40 Arg----Ser), Hb Leiden (beta 6 or 7 Glu----0), Hb Loui...

journal_title：Hemoglobin

authors： Wilson JB,Chen SS,Webber BB,Kutlar A,Kutlar F,Villegas A,Huisman TH

更新日期：1986-01-01 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：: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：: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：:A review is presented of the various beta-thalassemia alleles observed in nearly 191 patients with beta-thalassemia major and their 182 heterozygous relatives. Determination was by gene amplification and dot-blot hybridization with synthetic probes, specific for 27 different mutations. Eighteen mutations have been obs...

journal_title：Hemoglobin

authors： Oner R,Altay C,Gurgey A,Aksoy M,Kilinç Y,Stoming TA,Reese AL,Kutlar A,Kutlar F,Huisman TH

更新日期：1990-01-01 00:00:00

abstract：:Hemoglobinopathies are inherited diseases that impair the structure and function of the oxygen-carrying pigment hemoglobin (Hb). Adult Hb consists of two α and two β subunits. α-Thalassemia (α-thal) affects the genes that code for the α-globin chains, HBA1 and HBA2. Mutations can result in asymptomatic, mild or severe...

journal_title：Hemoglobin

authors： Horri-Naceur A,Timson DJ

更新日期：2020-03-01 00:00:00

abstract：:Hb F levels in beta-thalassemia heterozygotes are usually less than 2%, but amongst 1,059 patients studied, 73 (7%) had Hb F levels above 2.5% (2.6-14.0%). To investigate factors that may influence the increase of Hb F levels in these heterozygotes, we characterized the beta-thalassemia mutations and their chromosomal...

journal_title：Hemoglobin

authors： Vrettou C,Kanavakis E,Traeger-Synodinos J,Metaxotou-Mavrommati A,Basiakos I,Maragoudaki E,Stamoulakatou A,Papassotiriou I,Kattamis C

更新日期：2000-08-01 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：:Among the causes of life-long cyanosis are congenital methemoglobinemia due to M hemoglobins, congenital methemoglobinemia due to methemoglobin reductase deficiency, a small number of low oxygen affinity hemoglobins, and a small number of unstable hemoglobins that spontaneously form methemoglobin in vivo at an acceler...

journal_title：Hemoglobin

authors： Hojas-Bernal R,McNab-Martin P,Fairbanks VF,Holmes MW,Hoyer JD,McCormick DJ,Kubik KS

更新日期：1999-05-01 00:00:00

abstract：:Necrobiosis lipoidica (NL) is a rare granulomatous disease that predominantly affects middle-aged women and is often associated with diabetes mellitus (DM), rheumatoid arthritis (RA) and other metabolic disorders. Thalassemias are the most common hereditary hemoglobin (Hb) disorders worldwide. A few studies investigat...

journal_title：Hemoglobin

authors： Vetsiou E,Mpouras V,Nikolaidou C,Klonizakis P,Mandala E,Vamvakis K,Psarras K,Vlachaki E

更新日期：2020-05-01 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：:There are four copy numbers of α-globin genes (16p13.3) in the human genome and the number of defective α-globin genes dictates the severity of α-thalassemia (α-thal). Mutations that occur in the 3' untranslated region (3'UTR), and especially at the polyadenylation (polyA) sites, affect the translation, stability and ...

journal_title：Hemoglobin

authors： Forouzesh Pour F,Karimi K,Ghaderi Z,Tavakoli Koudehi A,Najmabadi H

更新日期：2020-11-01 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：:Low bone mass, a major cause of morbidity in patients with β-thalassemia major (β-TM), is multifactorial. There is lack of data about the current prevalence of low bone mass in patients with β-TM. The aims of this study are to examine the current prevalence of low bone mass in β-TM patients and the association between...

journal_title：Hemoglobin

authors： Tzoulis P,Ang AL,Shah FT,Berovic M,Prescott E,Jones R,Barnard M

更新日期：2014-01-01 00:00:00

abstract：:β-Thalassemia (β-thal) is characterized by reduction or absence of β-globin gene expression. We describe the spectrum of mutations observed in a large cohort of β-thal carriers in Khuzestan, Southwest Iran. All together 1,241 blood samples from individuals with decreased mean corpuscular volume (MCV) and elevated Hb A...

journal_title：Hemoglobin

authors： Galehdari H,Salehi B,Azmoun S,Keikhaei B,Zandian KM,Pedram M

更新日期：2010-01-01 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：:The benefits of combined deferoxamine (DFO) and deferiprone (L1) chelation therapy, focusing on reducing myocardial iron loading, have been widely reported. Herein, we present the efficacy of combined chelation and its effects on iron load indices. Five thalassemia major (TM) patients who were undergoing chelation mon...

journal_title：Hemoglobin

authors： Tsironi M,Assimakopoulos G,Polonofi K,Rigaki K,Aessopos A

更新日期：2008-01-01 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：: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