Prevalence of low bone mass and vitamin D deficiency in β-thalassemia major.

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：: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：: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：:Hb S [β6(A3)Glu→Val, GAG>GTG] is a β-globin gene variant that has a very low incidence in the Thai population. Coinheritance of Hb S and β(0)-thalassemia (β-thal) can result in severe clinical conditions. This study reports the case of a Thai patient with a compound heterozygosity for Hb S and β(0)-thal codon 17 (A>T)...

journal_title：Hemoglobin

authors： Pornprasert S,Panyasai S,Kongthai K,Treesuwan K

更新日期：2012-01-01 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：:We report a novel mutation at alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG), that we have named Hb Dartmouth for the medical center at which the patients were cared for, in monozygotic twins who also inherited the Southeast Asian alpha-thalassemia-1 deletion. The mother, of Khmer ancestry, is heterozygous for alpha-thala...

journal_title：Hemoglobin

authors： McBride KL,Snow K,Kubik KS,Fairbanks VF,Hoyer JD,Fairweather RB,Chaffee S,Edwards WH

更新日期：2001-11-01 00:00:00

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 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：:To assess the effects of combined vitamin therapy on oxidant-antioxidant hepatic status and hemoglobin (Hb) derivatives on β-thalassemia major (β-TM), a prospective study of 60 β-TM patients aged 4 to 17 years, was conducted. Thirty-nine patients with initial low serum vitamins E, C and A, were treated with oral combi...

journal_title：Hemoglobin

authors： Elalfy MS,Adly AA,Attia AA,Ibrahim FA,Mohammed AS,Sayed AM

更新日期：2013-01-01 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 studied two members of an African American family with erythrocytosis. An abnormal hemoglobin variant with an electrophoretic pattern on cellulose acetate similar to Hb J was identified. The oxygen dissociation curve using whole blood was biphasic, dramatically left-shifted, and hyperbolic. Sequence analysis of DNA...

journal_title：Hemoglobin

authors： Kattamis AC,Kelly KM,Ohene-Frempong K,Reilly MP,Keller M,Cubeddu R,Adachi K,Surrey S,Fortina P

更新日期：1997-03-01 00:00:00

abstract：:We describe two novel α2 gene mutations that result in an altered amino acid sequence. In case 1, the α2 stop codon was mutated from TAA > TTA (HBA2: c.428A > T), resulting in an α2 protein chain extension of 31 amino acids. The new hemoglobin (Hb) variant was named Hb Kinshasa for the place of origin of the patient. ...

journal_title：Hemoglobin

authors： Saller E,Dutly F,Frischknecht H

更新日期：2015-01-01 00:00:00

abstract：:From May 1985 to October 1987, 1,564 Southeast Asians living in Hawaii were screened for hereditary anemias. Microcytosis was determined by electronic red cell indices and morphology; iron deficiency was ruled out by normal red cell distribution width and normal protoporphyrin levels; Hb E was determined by electropho...

journal_title：Hemoglobin

authors： Hsia YE,Yuen J,Hunt JA,Rattamanasay P,Hall J,Takaesu N,Titus EA,Fujita J,Ford CA

更新日期：1988-01-01 00:00:00

abstract：:In this study, we describe the clinical features and provide experimental analyses of a novel point mutation affecting the penultimate nucleotide of the first exon of the HBA2 (HBA2: c.94A > G) gene identified in a 26-year-old female who also carries a heterozygous Hb E (HBB: c.79G > A) variant. The aim of the study w...

journal_title：Hemoglobin

authors： Qadah T,Finlayson J,Joly P,Ghassemifar R

更新日期：2014-01-01 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：:Laboratory investigation of hemoglobinopathies includes complete blood count (CBC), hemoglobin (Hb) typing by high performance liquid chromatography (HPLC) and DNA analysis. DNA analysis is the most reliable method but requires a manually laborious procedure and is time consuming. A more practical method of detecting ...

journal_title：Hemoglobin

authors： Wisedpanichkij R,Jindadamrongwech S,Butthep P

更新日期：2015-01-01 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：:Sickle cell disease is an inherited hemoglobinopathy with multi system complications. It has been associated with multiple maternal complications. A retrospective review of 68 consecutive pregnant women with sickle cell disease, followed in a tertiary center, was conducted over 5 years, to estimate the incidence of di...

journal_title：Hemoglobin

authors： Al-Farsi SH,Al-Riyami NM,Al-Khabori MK,Al-Hunaini MN

更新日期：2013-01-01 00:00:00

abstract：:The aim of this study was to evaluate the clinical, biological and genetic factors that could be associated with the use and dose of morphine during hospitalization for vaso-occlussive crisis (VOC) in adults with sickle cell disease. Ninety-nine hospitalizations for acute VOC (58 sickle cell disease patients aged 18 t...

journal_title：Hemoglobin

authors： Sabrie M,Cannas G,Tazarourte K,Poutrel S,Connes P,Hot A,Renoux C,Fattoum J,Joly P

更新日期：2018-07-01 00:00:00

abstract：:β-Thalassemia intermedia (β-TI) is a clinical term describing a range of clinical phenotypes that are intermediate in severity between the carrier state and β-thalassemia major (β-TM). To characterize the molecular basis of β-TI in Erbil Province, Northern Iraq, 83 unrelated patients were investigated. Detection of β-...

journal_title：Hemoglobin

authors： Shamoon RP,Al-Allawi NA,Cappellini MD,Di Pierro E,Brancaleoni V,Granata F

更新日期：2015-01-01 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：: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：: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：: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：:We have identified a deletion of 125 bp (α-α(Δ125)) (NG_000006.1: g.37040_37164del) in the α-globin gene cluster in a Kabyle population. A combination of singlex and multiplex polymerase chain reaction (PCR)-based assays have been used to identify the molecular defect. Sequencing of the abnormal PCR amplification prod...

journal_title：Hemoglobin

authors： Singh AR,Lacan P,Cadet E,Bignet P,Dumesnil C,Vannier JP,Joly P,Rochette J

更新日期：2016-01-01 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：: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：: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：: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：:β-Thalassemia (β-thal) is a genetic disorder representing a major health problem in Algeria. Our first objective was to determine the allelic frequencies and molecular spectrum of β-thal mutations in patients with major hemoglobinopathies [β-thal major (β-TM) and sickle cell disease] in three provinces of northeast Al...

journal_title：Hemoglobin

authors： Abdaoui W,Benouareth DE,Djenouni A,Renoux C,Grifi F,Gouri A,Athamnia F,Benalioua M,Joly P

更新日期：2019-01-01 00:00:00