The phenotype of sheep hemoglobins containing distinct alpha chains is influenced by beta chain genotype.

abstract：:Hemoglobin (Hb) disorders are common, potentially lethal monogenic diseases, posing a global health challenge. With worldwide migration and intermixing of carriers, demanding flexible health planning and patient care, hemoglobinopathies may serve as a paradigm for the use of electronic infrastructure tools in the coll...

journal_title：Hemoglobin

authors： Lederer CW,Basak AN,Aydinok Y,Christou S,El-Beshlawy A,Eleftheriou A,Fattoum S,Felice AE,Fibach E,Galanello R,Gambari R,Gavrila L,Giordano PC,Grosveld F,Hassapopoulou H,Hladka E,Kanavakis E,Locatelli F,Old J,Patrino

更新日期：2009-01-01 00:00:00

abstract：:Chronic red blood cell (RBC) transfusion is employed for a wide range of sickle cell disease complications, ranging from primary and secondary stroke prophylaxis to prevention of painful vaso-occlusive episodes. Currently different methods are employed by centers for chronic transfusion that include simple, automated ...

journal_title：Hemoglobin

authors： Mian HS,Ward R,Telfer P,Kaya B,Kuo KH

更新日期：2015-01-01 00:00:00

abstract：:Toto is one of the smallest tribes in the world. This primitive sub Himalayan, endogamous tribe lives in a small, isolated village called Totopara in the Jalpaiguri district of West Bengal in India. The tribal communities of West Bengal are vulnerable to various genetic disorders such as β-thalassemia (β-thal). We hav...

journal_title：Hemoglobin

authors： Bhattacharyya D,Mukhopadhyay A,Chakraborty A,Dasgupta S,Mukhopadhyay S,Pal N,Basak J

更新日期：2013-01-01 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：: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：: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：: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：: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：: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：: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 Taybe is a highly unstable hemoglobin (Hb) variant caused by a 3 bp deletion at codons 38/39 (-ACC) on the α1-globin gene. We report for the first time, a patient with a compound heterozygosity for Hb Taybe and a 5 bp deletion at the splice donor site of IVS-I on the α2-globin gene and ischemic stroke and priapism....

journal_title：Hemoglobin

authors： Juul MB,Vestergaard H,Petersen J,Frederiksen H

更新日期：2012-01-01 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：: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：: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：:We report four cases of compound heterozygotes for Hb S (HBB: c.20A>T) and a rare β0-thalassemia (β0-thal) mutation, Hb Westdale (HBB: c.380_396delTGCAGGCTGCCTATCAG), characterized by a 17 bp deletion between codons 126 to 131 in exon 3 of the β-globin gene of human hemoglobin (Hb) confirmed by direct β-globin gene se...

journal_title：Hemoglobin

authors： Dehury S,Meher S,Patel S,Das K,Jana A,Bhattacharya S,Sahoo S,Sarkar B,Mohanty PK

更新日期：2019-03-01 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：: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 capillary electrophoresis (CE) system allows the quantification of Hb Bart's (γ4) and Hb H (β4) that is used for screening of Hb H disease. However, Hb Bart's hydrops fetalis and Hb H are not always codetected in patients with Hb H disease. In this study, 35 samples were analyzed for the α0-thalassemia (α0-thal) [...

journal_title：Hemoglobin

authors： Khongthai K,Ruengdit C,Panyasai S,Pornprasert S

更新日期：2019-01-01 00:00:00

abstract：:We describe a high oxygen affinity hemoglobin (Hb) variant (Hb Vanderbilt) as a result of a heterozygous novel base change from T to A at codon 89 (AGT>AGA) leading to an amino acid change from serine to arginine. ...

journal_title：Hemoglobin

authors： Goodyer MJ,Elhassadi EI,Percy MJ,McMullin MF

更新日期：2011-01-01 00:00:00

abstract：:The comparative mobilities, in citrate agar electrophoresis, of 91 mutant hemoglobins are presented in relation to their molecular structure and in some cases, to their mobilities in other types of electrophoresis. More than a third of the alpha chain mutants (11 of the 27 examined) and half of the beta chain mutants ...

journal_title：Hemoglobin

authors： Schneider RG,Hightower B

更新日期：1977-01-01 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：: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：:A third case of Hb J Iran is reported. The propositus is of Russian-Armenian origin and was investigated for hematuria. The electrophoretic behavior and the characterization of primary structure are described. Hb J Iran is stable and has normal functional properties. High resolution Nuclear Magnetic Resonance spectra ...

journal_title：Hemoglobin

authors： Delanoe-Garin J,Rhoda MD,Craescu CT,Bardakjian J,Blouquit Y,Lacombe C,Arous N,Poyart C,Ganeval D,Girot R

更新日期：1986-01-01 00:00:00

abstract：:A new beta-hemoglobin (Hb) variant, Hb Stockholm [beta7(A4)GluAsp], is described. The variant was characterized by mass spectrometry and DNA sequencing. The new variant is clinically silent but interferes with Hb A(1c) quantification using ion exchange chromatography, causing a falsely low Hb A(1c) level when using th...

journal_title：Hemoglobin

authors： Bergman AC,Beshara S,Byman I,Karim R,Landin B

更新日期：2009-01-01 00:00:00

abstract：:We report a novel hemoglobin (Hb) variant that we named Hb Fulton-Georgia, caused by a point mutation in exon 1/codon 20 of the α-globin gene [α20(B1)His→Pro; HBA1: c.62A>C]. This α chain variant was identified in an adult African-American female with Hb SC disease who was also heterozygous for the α-thalassemia-2 (α-...

journal_title：Hemoglobin

authors： Zhuang L,Patel N,Bryant S,Kutlar A,Kutlar F,Young AN

更新日期：2013-01-01 00:00:00

abstract：:Hemolysates from 100,000 people who visited the Kyushu University Hospital and affiliated hospitals during the past 15 years were screened for hemoglobinopathies using electrophoresis on thin-layer starch gel; those exhibiting an abnormality were characterized further on clinical, biochemical, and genetic grounds. Of ...

journal_title：Hemoglobin

authors： Imamura T,Sugihara J,Matsuo T,Maruyama T,Ohta Y,Sumida I,Yamaoka K,Yanase T

更新日期：1980-01-01 00:00:00

abstract：:Unstable hemoglobin (Hb) variants represent a rare etiology of congenital hemolytic anemia. Correct diagnosis can be a challenge due to the relative rarity or lack of awareness of this disorder. We report an 18-month-old girl, who presented with a long-standing hemolytic anemia. Her diagnosis of unstable Hb Perth [β32...

journal_title：Hemoglobin

authors： Jiang H,Yan JM,Li J,Xie XM,Li DZ

更新日期：2016-06-01 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：:Hb Les Andelys [alpha83(F4)Leu-->Pro] is a mildly unstable variant that was found during glycated hemoglobin measurement in a French family. In this hemoglobin molecule the affected site, in the alpha chain, and the amino acid substitution are identical to those of Hb Santa Ana, an unstable beta chain variant. The str...

journal_title：Hemoglobin

authors： Wajcman H,Promé D,Préhu C,Déon C,Riou J,Bouanga JC,Papassotiriou I,Lahary A,Galactéros F

更新日期：1998-03-01 00:00:00

abstract：:We present the characterization of the molecular spectrum and frequency data of alpha-thal (thal) defects in Tunisia, and an evaluation of the efficacy and limitations of Hb Bart's (gamma4) measurement for the screening of alpha-thal at birth. Cord blood samples were collected from two different areas: the northeast o...

journal_title：Hemoglobin

authors： Zorai A,Harteveld CL,Bakir A,Van Delft P,Falfoul A,Dellagi K,Abbes S,Giordano PC

更新日期：2002-11-01 00:00:00