Hemoglobin Brisbane: beta68 Leu replaced by His. A new high oxygen affinity variant.

abstract：:Alpha-Thalassemia (thal) is generally considered to be an expression defect caused mostly by deletions silencing one or more alpha-globin genes. Although nondeletional alpha-thalassemia is considered rare, in our laboratory we frequently observe alpha-thal phenotypes induced by point mutations. We report a new point m...

journal_title：Hemoglobin

authors： Harteveld CL,van Delft P,Plug R,Versteegh FG,Hagen B,van Rooijen I,Kok PJ,Wajcman H,Kister J,Giordano PC

更新日期：2002-08-01 00:00:00

abstract：:This work compiles the results of our research on alpha- and beta-thalassemias, and includes a literature review of the molecular genetics of alpha- and beta-thalassemias in Spain. We studied 1,564 subjects with thalassemia (294 with beta-thalassemia and 1,264 with alpha-thalassemia) by molecular biology techniques. I...

journal_title：Hemoglobin

authors： Villegas A,Ropero P,González FA,Anguita E,Espinós D

更新日期：2001-08-01 00:00:00

abstract：:The molecular basis of the thalassemias has been studied in many of the world's populations. Here we report the results of the first screening for mutations in Vietnam. Twenty-three unrelated patients, of which 17 have Hb E/beta-thalassemia, were diagnosed and beta-globin mutations were detected in all 46 chromosomes....

journal_title：Hemoglobin

authors： Filon D,Oppenheim A,Rachmilewitz EA,Kot R,Truc DB

更新日期：2000-05-01 00:00:00

abstract：:Patients with the β0/β0 type of β-thalassemia (β-thal) usually present as β-thal major (β-TM), and are transfusion-dependent. However, the clinical and hematological features of β-thal can be modulated by different modifiers, resulting in a wide range of clinical severity even in patients with the same genotypes. We r...

journal_title：Hemoglobin

authors： Xie XM,Liu YN,Li J,Jiang F,Li DZ

更新日期：2019-03-01 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：:Raised Hb F is occasionally found in stress erythropoiesis associated with hemolytic anemias. In hereditary spherocytosis (HS), elevation of Hb F by 2-5% may be seen but Hb F in the range of 10-20% has not been reported. We present an interesting case of a child, initially presenting with high Hb F, who showed a spont...

journal_title：Hemoglobin

authors： Kar R,Saxena R,Pati HP

更新日期：2008-01-01 00:00:00

abstract：:We report a novel frameshift mutation in exon 3 of the β-globin gene, that, in the heterozygous state, leads to a β-thalassemia intermedia (β-TI) phenotype (marked anemia, splenomegaly, hyperbilirubinemia, jaundice, unbalanced synthesis of α/non-α chains in a 34-year-old Italian woman. This frameshift mutation, due to...

journal_title：Hemoglobin

authors： Amato A,Cappabianca MP,Perri M,Zaghis I,Mastropietro F,Ponzini D,Di Biagio P,Piscitelli R

更新日期：2012-01-01 00:00:00

abstract：:We have analyzed the blood samples from seven members of two families that contained mixtures of different hemoglobin types due to the simultaneous presence of different beta chain variants and the alpha chain variant Hb G-Philadelphia. The methods used were isoelectrofocusing and cation exchange high performance liqu...

journal_title：Hemoglobin

authors： Kutlar F,Kutlar A,Nuguid E,Prchal J,Huisman TH

更新日期：1993-02-01 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：: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), a genetic disease characterized by microcytosis, hypochromia and anemia, is predominantly caused by deletions of the α-globin genes, HBA2 and HBA1. In this study, we describe a novel 31.1 kb α-thal deletion, - -MEX3 (NC_000016.10: g.151479_182582del), observed in a Mexican family, probably orig...

journal_title：Hemoglobin

authors： Rentería-López VM,Perea-Díaz FJ,Rizo-delaTorre LC,Sánchez-López JY,Ibarra-Cortés B

更新日期：2017-05-01 00:00:00

abstract：:Without gel electrophoresis and specific probes, the two tubes real-time SYBR-polymerase chain reaction (SYBR-PCR) was setup by using different primer sets: P1/P2 for the detection of wild type alpha-globin gene alleles and P1/P3 for detection of the allele bearing the Southeast Asian (SEA) type (--SEA) deletion. Anal...

journal_title：Hemoglobin

authors： Pornprasert S,Sukunthamala K,Sacome J,Phusua A,Saetung R,Sanguansermsri T,Leechanachai P

更新日期：2008-01-01 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 case of a 43-year-old woman, affected by human immunodeficiency virus (HIV) and beta-thalassemia major (beta-TM), adequately treated with antiretroviral and transfusion-chelation therapy, that develops progressive right ventricular dysfunction due to severe pulmonary arterial hypertension (PAH), in absence...

journal_title：Hemoglobin

authors： Derchi G,Lai ME,Marcaccini P,Carta MP,Vacquer S

更新日期：2010-01-01 00:00:00

abstract：:Tyr35β is located at the convergence of the α1β1, α1β2 and α1α2 interfaces of Hb A. We here report a Chinese family in whom the codon 35 (A > G) (HBB: c.107A > G) mutation of the β-globin gene was not associated with the thalassemic phenotype previously described. ...

journal_title：Hemoglobin

authors： Wu MY,Li DZ

更新日期：2016-01-01 00:00:00

abstract：:We report the spectrum of β-thalassemia (β-thal) mutations observed in a cohort of at-risk couples, who presented for prenatal diagnosis at the Thalassemia, Hemophilia and Prenatal Diagnosis Genetic Research Center, Shiraz Medical University, Fars, Iran, from March 2001 to April 2002. Using polymerase chain reaction-a...

journal_title：Hemoglobin

authors： Rahiminejad MS,Zeinali S,Afrasiabi A,Valeshabad AK

更新日期：2011-01-01 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：: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：: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：: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：: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：: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：:Common alpha-thalassemia (thal) rearrangements were studied in a normal random population and in six ethnic groups of Pakistan. Analyses of 204 individuals from the normal population revealed the presence of only the -alpha(3.7) allele with an overall frequency of 8.3%. Ethnic differences were statistically significan...

journal_title：Hemoglobin

authors： Khan SN,Hasan F,Sollaino C,Perseu L,Riazuddin S

更新日期：2003-08-01 00:00:00

abstract：:The restriction endonuclease map of the alpha and beta globin genomic region of the new human erythroleukemia line, HEL, was compared with that of normal human DNA. The HEL line, which produces mainly fetal (G gamma and A gamma) but no adult (delta and beta) globin chains, was shown to have the same pattern of DNA fra...

journal_title：Hemoglobin

authors： Mueller RF,Murray JC,Gelinas R,Farquhar M,Papayannopoulou T

更新日期：1983-01-01 00:00:00

abstract：:Renal dysfunction in sickle cell disease is not only a chronic comorbidity but also a mortality risk factor. Though renal dysfunction starts early in life in sickle cell patients, the predictors that can identify sickle cell disease patients at risk of developing renal dysfunction is not known. We used the Truven Heal...

journal_title：Hemoglobin

authors： Yeruva SL,Paul Y,Oneal P,Nouraie M

更新日期：2016-09-01 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：:New gold standard protocols are tested for the complete removal of iron overload in thalassemia using the International Committee on Chelation (ICOC) Maintaining Normal Body Iron combination protocol therapy of deferiprone (L1)/deferoxamine (DFO) and maintenance of normal range body iron store levels (NRBISL) using L1...

journal_title：Hemoglobin

authors： Kolnagou A,Kontoghiorghes GJ

更新日期：2010-06-01 00:00:00

abstract：:Sickle cell disease is an inherited hemoglobinopathy associated with significant morbidity and mortality. Reports suggest a high sickle cell disease burden among the indigenous Tharu population of Nepal, who for centuries have inhabited regions where malaria is endemic. Unfortunately, health care resources are limited...

journal_title：Hemoglobin

authors： Marchand M,Gill C,Malhotra AK,Bell C,Busto E,McKeown MD,Cherukupalli A,Yeo J,Arnold B,Kapoor V

更新日期：2017-01-01 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：:β-Thalassemia (β-thal), is an autosomal recessive disorder caused by mutations at the β gene locus. β-Thalassemia major (β-TM) is a severe form of the disease, characterized by severe hypochromic and hemolytic anemia with an increased need for transfusion. Hemolysis is caused by intoxication, whereas mechanical remova...

journal_title：Hemoglobin

authors： Obaid JM,Abo El-Nazar SY,Ghanem AM,El-Hadidi AS,Mersal BH

更新日期：2015-01-01 00:00:00