Results of Coexistence of β-Thalassemia Minor in Hb H Disease Patients.

Abstract:

:The aim of this study was to determine the hematological characteristics in a large group of Hb H (β4) patients with or without a coexisting β-thalassemia (β-thal), identified by a thalassemia screening program in mainland China. A total of 361 patients with Hb H disease were found, including 343 with deletional types and 18 with nondeletional types. β-Thalassemia was found in 28 (7.8%) out of the 361 Hb H cases, and all of the 28 cases had the deletional type of Hb H disease. Lower hemoglobin (Hb) levels were detected in cases with the nondeletional type compared to those in cases with the deletional type. β-Thalassemia significantly increases the Hb levels in Hb H cases. The Hb H and Hb Bart's (γ4) fractions were visible in 270 (85.7%) and 122 (38.7%) out of 315 deletional type cases, respectively, while no Hb H or Hb Bart's fractions were detectable in 28 deletional type cases with β-thal. Therefore, the diagnosis of Hb H disease in a β-thal carrier is challenging. Molecular analysis of α- and β-globin genes is imperative in all cases with a β-thal trait.

journal_name

Hemoglobin

journal_title

Hemoglobin

authors

Chen GL,Jiang F,Li J,Zhou JY,Li DZ

doi

10.1080/03630269.2018.1561461

subject

Has Abstract

pub_date

2018-01-01 00:00:00

pages

306-309

issue

5-6

eissn

0363-0269

issn

1532-432X

journal_volume

42

pub_type

杂志文章
  • Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family.

    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

    pub_type: 杂志文章

    doi:10.1080/03630269.2019.1625786

    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

  • Hereditary spherocytosis with high fetal hemoglobin: an interesting case.

    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

    pub_type: 杂志文章

    doi:10.1080/03630260802341976

    authors: Kar R,Saxena R,Pati HP

    更新日期:2008-01-01 00:00:00

  • An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C).

    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

    pub_type: 杂志文章

    doi:10.1080/03630269.2019.1710530

    authors: van Gammeren AJ,Pelkmans L,Endschot CCWV,Roelofsen-de Beer RJAC,Harteveld CL

    更新日期:2020-01-01 00:00:00

  • Effect of antioxidant therapy on hepatic fibrosis and liver iron concentrations in β-thalassemia major patients.

    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

    pub_type: 杂志文章,随机对照试验

    doi:10.3109/03630269.2013.778866

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

    更新日期:2013-01-01 00:00:00

  • Relationship between impaired glycation and the N-terminal structure of the Hb Görwihl [beta5(A2)Pro-->Ala] variant.

    abstract::We studied the structural environment surrounding the beta-N-terminal glycation site of a hemoglobin (Hb) molecule in which the proline residue at beta5(A2) was substituted by alanine in silico. By computer analysis that used Protein Data Bank data (PDB ID: 1BZ0), we tried to clarify the reason for impaired glycation ...

    journal_title:Hemoglobin

    pub_type: 杂志文章

    doi:10.3109/03630261003676785

    authors: Ito S,Nakahari T,Yamamoto D

    更新日期:2010-01-01 00:00:00

  • A new hemoglobin variant: Hb Dagestan alpha 60(E9) Lys leads to Glu.

    abstract::An electrophoretically I-like hemoglobin variant was detected during a survey for abnormal hemoglobins in Dagestan (USSR). Neither clinical nor hematological abnormalities were seen in the carrier for this mutant hemoglobin. Structural studies demonstrated a previously undescribed substitution of alpha 60 (E9) Lys lea...

    journal_title:Hemoglobin

    pub_type: 杂志文章

    doi:10.3109/03630268108996919

    authors: Spivak VA,Molchanova TP,Ermakov NV,Tokarev YuN,Martinez G,Szelenyi J,Horanyi M,Foldi J,Hollan S,Kazieva H,Shamov IA

    更新日期:1981-01-01 00:00:00

  • Comprehensive spectrum of the β-Thalassemia mutations in Khuzestan, southwest Iran.

    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

    pub_type: 杂志文章

    doi:10.3109/03630269.2010.514153

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

    更新日期:2010-01-01 00:00:00

  • Databases of human hemoglobin variants and other resources at the globin gene server.

    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

    pub_type: 杂志文章,评审

    doi:10.1081/hem-100104027

    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

  • Hemoglobin Willamette (alpha2beta2 51Pro replaced by Apg (D2)) a new abnormal human hemoglobin.

    abstract::A hemoglobin variant with the same electrophoretic mobility as hemoglobin S was found in three generations of a black family. No clinical symptoms or findings were present in subjects heterozygous for this mutant. Except for target forms of mature erythrocytes, they have no abnormal hematologic findings. Structural st...

    journal_title:Hemoglobin

    pub_type: 杂志文章

    doi:10.3109/03630267609031021

    authors: Jones RT,Koler RD,Duerst ML,Dhindsa DS

    更新日期:1976-01-01 00:00:00

  • Hb-Alberta or alpha2beta2 (101(G3) Glu replaced by Gly), a new high-oxygen-affinity hemoglobin variant causing erythrocytosis.

    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

    pub_type: 杂志文章

    doi:10.3109/03630267608991679

    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

  • Compound Heterozygote of Hb S (HBB: c.20A>T)/Hb Westdale (HBB: c.380_396delTGCAGGCTGCCTATCAG): Report of Four Cases from Odisha State, India.

    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

    pub_type: 杂志文章

    doi:10.1080/03630269.2019.1602052

    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

  • Necrobiosis Lipoidica in a Patient with β-Thalassemia Major: A Case Report and Review of the Literature.

    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

    pub_type: 杂志文章

    doi:10.1080/03630269.2020.1783287

    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

  • Purification and properties of adenosine deaminase in normal and hereditary hemolytic anemia with increased red cell activity.

    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

    pub_type: 杂志文章

    doi:10.3109/03630268008997738

    authors: Fujii H,Miwa S,Suzuki K

    更新日期:1980-01-01 00:00:00

  • Hb Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at physiological pH.

    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

    pub_type: 杂志文章

    doi:10.3109/03630269209005674

    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

  • Analysis of Deletional Hb H Diseases in Samples with Hb A2-Hb H and Hb A2-Hb Bart's on Capillary Electrophoresis.

    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

    pub_type: 杂志文章

    doi:10.1080/03630269.2019.1683573

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

    更新日期:2019-01-01 00:00:00

  • Restriction endonuclease mapping of globin genomic regions of HEL (human erythroleukemia) line.

    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

    pub_type: 杂志文章

    doi:10.3109/03630268309048653

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

    更新日期:1983-01-01 00:00:00

  • Amino acid sequence of the hemoglobin of raccoon (Procyon lotor).

    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

    pub_type: 杂志文章

    doi:10.3109/03630267809005345

    authors: Brimhall B,Stangland K,Jones RT,Becker RR,Bailey TJ

    更新日期:1978-01-01 00:00:00

  • Two novel α2 gene mutations causing altered amino acid sequences produce a mild (Hb Kinshasa, HBA2: c.428A > T) and severe (HBA2: c.342-345insCC) α-thalassemia phenotype.

    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

    pub_type: 杂志文章

    doi:10.3109/03630269.2015.1008137

    authors: Saller E,Dutly F,Frischknecht H

    更新日期:2015-01-01 00:00:00

  • Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia.

    abstract::In this report we describe a case of Hb H disease due to the interaction of the --(MED 1) deletion with a new alpha(+)-thalassemia determinant. The molecular analysis of the proband's genomic DNA was carried out by polymerase chain reaction amplification and sequencing of both alpha genes of the alpha(+)-thalassemia c...

    journal_title:Hemoglobin

    pub_type: 杂志文章

    doi:10.3109/03630269909090747

    authors: Traeger-Synodinos J,Harteveld CL,Kanavakis E,Giordano PC,Kattamis C,Bernini LF

    更新日期:1999-11-01 00:00:00

  • Prenatal Diagnosis and Molecular Analysis of a Large Novel Deletion (- -JS) Causing α0-Thalassemia.

    abstract::α-Thalassemia (α-thal) is a very common single gene hereditary disease caused by large deletions or point mutations of the α-globin gene cluster in tropical and subtropical regions of the world. Here, we report for the first time, a novel large α-thal deletion in a Chinese family from Jiangsu Province, People's Republ...

    journal_title:Hemoglobin

    pub_type: 杂志文章

    doi:10.1080/03630269.2017.1374968

    authors: Cao J,He S,Pu Y,Liu J,Liu F,Feng J

    更新日期:2017-01-01 00:00:00

  • Novel therapies targeting the endothelium in sickle cell disease.

    abstract::The recognition of sickle cell disease as a chronic vasculopathy characterized by endothelial injury has led to new insights into complex biological processes and offers the potential for novel pharmacological treatments. Endothelial injury has been related to impaired nitric oxide (NO) homeostasis, inflammation, oxid...

    journal_title:Hemoglobin

    pub_type: 杂志文章,评审

    doi:10.3109/03630269.2011.606482

    authors: Hoppe CC

    更新日期:2011-01-01 00:00:00

  • The thalassemia syndromes: molecular characterization in the Spanish population.

    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

    pub_type: 杂志文章

    doi:10.1081/hem-100105220

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

    更新日期:2001-08-01 00:00:00

  • Identification of nondeletional α-thalassemia in a prenatal screening program by reverse dot-blot in southern China.

    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

    pub_type: 杂志文章

    doi:10.3109/03630269.2014.985832

    authors: Li J,Li R,Li DZ

    更新日期:2015-01-01 00:00:00

  • Clinical and laboratory effects of hydroxyurea in children and adolescents with sickle cell anemia: a Portuguese hospital study.

    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

    pub_type: 杂志文章

    doi:10.1081/hem-200066299

    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

  • Hb Sun Prairie or alpha(2)130(H13)Ala----Pro beta 2, a new unstable variant occurring in low quantities.

    abstract::A severe hemolytic anemia with microcytosis and hypochromia was present in a young adopted Indian patient. Reversed phase high performance liquid chromatographic methodology and heat stability tests detected an unstable alpha chain which was present in 3 to 5% of the total hemoglobin. A larger quantity of the alpha X ...

    journal_title:Hemoglobin

    pub_type: 杂志文章

    doi:10.3109/03630269009005801

    authors: Harkness M,Harkness DR,Kutlar F,Kutlar A,Wilson JB,Webber BB,Codrington JF,Huisman TH

    更新日期:1990-01-01 00:00:00

  • Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem.

    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

    pub_type: 杂志文章

    doi:10.1080/03630260802626061

    authors: Boudrahem-Addour N,Zidani N,Carion N,Labie D,Belhani M,Beldjord C

    更新日期:2009-01-01 00:00:00

  • Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island.

    abstract::Sickle cell disease presents a great clinical variability that remains largely misunderstood. New disease protective genetic modifiers acting mainly through an increased Hb F level have recently been described. We studied relations between clinical and hematological phenotypes and known sickle cell disease genetic mod...

    journal_title:Hemoglobin

    pub_type: 杂志文章

    doi:10.3109/03630269.2015.1023897

    authors: Muszlak M,Pissard S,Badens C,Chamouine A,Maillard O,Thuret I

    更新日期:2015-01-01 00:00:00

  • Globin chain synthesis is a useful complementary tool in the differential diagnosis of thalassemias.

    abstract::The present study aimed at differentiating rare types of heterozygous beta-thalassemia (thal) with normal Hb A(2) values from alpha-thal in Iranian carriers by globin chain synthesis in addition to other hematological parameters. Our study groups consisted of 51 normal subjects, 24 heterozygous beta- thalassemic subje...

    journal_title:Hemoglobin

    pub_type: 杂志文章

    doi:10.1080/03630260701462006

    authors: Khatami S,Dehboneh SR,Sadeghi S,Mirzazadeh R,Saeedi P,Bayat P,Najmabadi H,Zeinali S,Akbari MT,Ardjmand M,Amirkhani A

    更新日期:2007-01-01 00:00:00

  • A local equation for differential diagnosis of β-thalassemia trait and iron deficiency anemia by logistic regression analysis in Southeast Iran.

    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

    pub_type: 杂志文章

    doi:10.3109/03630269.2014.948187

    authors: Sargolzaie N,Miri-Moghaddam E

    更新日期:2014-01-01 00:00:00

  • Micromapping of thalassemia and hemoglobinopathies in diferent regions of northeast Thailand and Vientiane, Laos People's Democratic Republic.

    abstract::In order to determine the prevalence of thalassemia and hemoglobinopathies in different regions of northeast (NE) Thailand and Vientiane, Laos People's Democratic Republic (PDR), a total of 1,809 blood samples were collected consecutively from individuals attending antenatal care services at 11 community hospitals in ...

    journal_title:Hemoglobin

    pub_type: 杂志文章,多中心研究

    doi:10.3109/03630269.2011.637149

    authors: Tritipsombut J,Sanchaisuriya K,Phollarp P,Bouakhasith D,Sanchaisuriya P,Fucharoen G,Fucharoen S,Schelp FP

    更新日期:2012-01-01 00:00:00