Hb Alesha [β67(E11)Val→Met (GTG>ATG); HBB: c.202G > A] Found in a Chinese Girl.

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：:Sickle cell disease is characterized by intermittent painful crises often requiring treatment in the emergency department (ED). Past examinations of time-to-provider (TTP) in the ED for patients with sickle cell disease demonstrated that these patients may have longer TTP than other patients. Here, we examine TTP for ...

journal_title：Hemoglobin

authors： Pulte D,Lovett PB,Axelrod D,Crawford A,McAna J,Powell R

更新日期：2016-09-01 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：: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 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：:High prevalence of hemoglobin (Hb) disorders mandates national programs for screening and genetic counseling in many countries. Increased Hb A2 levels are commonly associated with β-thalassemias, however, various disorders including alteration of δ chains may result in decreased production of Hb A2, thus hindering the...

journal_title：Hemoglobin

authors： Rets AV,Reading NS,Agarwal AM

更新日期：2020-11-01 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：:We have identified and quantitated the different types of mRNA in single BFU-E derived colonies from Hb S and Hb Atlanta [beta 75 (E19)Leu-->Pro] heterozygotes and observed that the normal and mutated mRNAs were present in equal quantities. Similar studies for the different protein products gave less accurate data bec...

journal_title：Hemoglobin

authors： Smetanina NS,Gu LH,Rodriguez Romero WE,Howard EF,Huisman TH

更新日期：1996-08-01 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：:Erythropoiesis is increased in cultures of human blood progenitors when oxygen tension is reduced from 20% (room air) to 5% (low oxygen, closer to physiological bone marrow levels). The effects of low oxygen on gamma-globin synthesis and colony growth in methyl cellulose cultures of blood mononuclear cells from normal...

journal_title：Hemoglobin

authors： Weinberg RS,Acosta R,Knobloch ME,Garber M,Alter BP

更新日期：1995-09-01 00:00:00

abstract：:The most common differential diagnosis of β-thalassemia (β-thal) trait is iron deficiency anemia. Several red blood cell equations were introduced during different studies for differential diagnosis between β-thal trait and iron deficiency anemia. Due to genetic variations in different regions, these equations cannot ...

journal_title：Hemoglobin

authors： Sargolzaie N,Miri-Moghaddam E

更新日期：2014-01-01 00:00:00

abstract：:Hb Westmead or alpha 2 122(H5)His----Gln beta 2 is one of the most common hemoglobin variants in Guangxi, a province in Southern China. The alpha 2-globin DNA sequence of a carrier for this variant was selectively amplified by the polymerase chain reaction and analyzed with the restriction enzyme Stu I. We found that ...

journal_title：Hemoglobin

authors： Jiang NH,Liang S,Wen XJ,Liang R,Su C,Tang Z

更新日期：1991-01-01 00:00:00

abstract：:Over many years, cases of suspected α-globin chain variants were collected from different parts of the UK. The suspicion was based on the clinical picture, high performance liquid chromatography (HPLC) variant percentage, retention time (RT) and isoelectric focusing (IEF). DNA sequencing and the restriction enzyme Eae...

journal_title：Hemoglobin

authors： Khalil MSM,Timbs AT,Henderson SJ,Schuh A,El-Khawanky MM,Old JM

更新日期：2020-05-01 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

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：:Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] has been reported in heterozygotes of Moroccan origin and also in association with the common -alpha(3.7) deletion. In all cases, the mutated protein was not detectable but was apparently associated with a mild alpha-thalassemia (thal) phenotype, presumably du...

journal_title：Hemoglobin

authors： Giordano PC,Zweegman S,Akkermans N,Arkesteijn SG,van Delft P,Versteegh FG,Wajcman H,Harteveld CL

更新日期：2007-01-01 00:00:00

abstract：:Guidelines for minimizing risks from alloimmunization, other transfusion reactions, and infection risks are presented based on the Thalassemia International Federation (TIF) guidelines. Future developments including pretreatment of the red cell product that may reduce infection risks are discussed. The rationale for g...

journal_title：Hemoglobin

authors： Porter J

更新日期：2009-01-01 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 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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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