Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.

No abstract is available for this paper.

• Publication year

  1988

• Venue

  Blood

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  DOI 10.1182/blood.v72.3.1007.bloodjournal7231007PMID 2458145
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.

  1988cited by this paper
• The detection of beta-globin gene mutations in beta-thalassemia using oligonucleotide probes and amplified DNA.

  1988cited by this paper
• Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

  1988cited by this paper
• Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

  1987cited by this paper
• Two different quadruplicated alpha globin gene arrangements.

  1987cited by this paper
• Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA.

  1987cited by this paper
• Association of the level of G gamma chain in the fetal hemoglobin of normal adults with specific haplotypes.

  1986cited by this paper
• Separation of normal and abnormal hemoglobin chains by reversed-phase high-performance liquid chromatography.

  1986cited by this paper
• Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes.

  1986cited by this paper
• Direct cloning and sequence analysis of enzymatically amplified genomic sequences.

  1986cited by this paper
• Haplotypes of beta S chromosomes among patients with sickle cell anemia from Georgia.

  1986cited by this paper
• On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.

  1986cited by this paper
• Different zeta globin gene deletions among black Americans.

  1986cited by this paper
• Haplotypes and levels of fetal hemoglobin and G gamma to A gamma ratios in Mediterranean patients with thalassemia minor and major.

  1985cited by this paper
• Five haplotypes in Black beta-thalassaemia heterozygotes: three are associated with high and two with low G gamma values in fetal haemoglobin.

  1985cited by this paper
• (A gamma delta beta)0-Thalassaemia in Blacks is due to a deletion of 34 kbp of DNA.

  1985cited by this paper
• DNA sequence variation associated with elevated fetal G gamma globin production.

  1985cited by this paper
• Thalassemia due to a mutation in the cleavage‐polyadenylation signal of the human beta‐globin gene.

  1985cited by this paper
• beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.

  1984cited by this paper
• Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.

  1984cited by this paper
• Partial deletion of the 5' beta-globin gene region causes beta zero-thalassemia in members of an American black family.

  1984cited by this paper
• "Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA.

  1983cited by this paper
• A new high-performance liquid chromatographic procedure for the separation and quantitation of various hemoglobin variants in adults and newborn babies.

  1983cited by this paper
• beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.

  1983cited by this paper
• Lambda replacement vectors carrying polylinker sequences.

  1983cited by this paper
• Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

  1982cited by this paper
• Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes.

  1982cited by this paper
• Hemoglobinopathies observed in the population of the Southeastern United States (SE-USA).

  1980cited by this paper
• Isoelectric focusing of human hemoglobin: its application to screening, to the characterization of 70 variants, and to the study of modified fractions of normal hemoglobins.

  1978cited by this paper
• Further modification of the microchromatographic determination of hemoglobin A2.

  1977cited by this paper
• DNA sequencing with chain-terminating inhibitors.

  1977cited by this paper
• Estimation of small percentages of foetal haemoglobin.

  1959cited by this paper

• Global distribution of β-thalassemia mutations: An Update.

  2023cites this paper
• Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.

  2021cites this paper
• Rare β-Globin Gene Mutations including a de novo Mutation of Hemoglobin Hammersmith in Southern Thailand

  2020cites this paper
• Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

  2020cites this paper
• Importance of Family Studies with High Performance Liquid Chromatography (HPLC) in Hemoglobin Disorders: An analysis of 37 Families

  2020cites this paper
• Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (HBB: c.316-3C>A) in association with IVS-I-1 (G>A) (HBB: c.92 + 1G>A), observed in a Syrian family: a case report

  2019cites this paper
• Epidemiologic and clinical characteristics of nontransfusion‐dependent thalassemia in the United States

  2018cites this paper
• Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil

  2017cites this paper
• Study of Haematological Profile of Thalassemia Patients With Reference To High Performance Liquid Chromatography

  2016cites this paper
• Amelioration of Sickle Cell Pain after Parathyroidectomy in Two Patients with Concurrent Hyperparathyroidism: An Interesting Finding

  2016cites this paper
• [French guidelines for the management of adult sickle cell disease: 2015 update].

  2015cites this paper
• Occurrence of the Codon 24 (A > T) Mutation in the Mauritanian Population

  2015cites this paper
• A Novel Promoter Mutation (HBB: c.-75G>T) Was Identified as a Cause of β+-Thalassemia

  2015cites this paper
• Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of the β-Globin Gene Promoter (HBB: c.-133G > A)

  2014cites this paper
• Problems in determining thalassemia carrier status in a program for prevention and control of severe thalassemia syndromes: a lesson from Thailand

  2013cites this paper
• Extensive Polymorphisms in Saudi Beta Thalassaemia Patients

  2013cites this paper
• Identification of IVS-I (-1) (G > C) or Hb Monroe as a report on the beta-globin gene with a beta-thalassemia minor phenotype in south of Iran.

  2013cites this paper
• Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah

  2013cites this paper
• Prevention of Thalassaemias and Other Haemoglobin Disorders

  2013cites this paper
• The hemoglobin regulatory regions

  2012cites this paper
• Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient

  2011cites this paper
• Hb S-β-Thalassemia: Molecular, Hematological and Clinical Comparisons

  2011cites this paper
• mutation on a beta s chromosome Beta+-thalassemia in cis of a sickle cell gene: occurrence of a promoter

  2011cites this paper
• other genotypes in two families mutation in the 5' untranslated region: a study of its interaction with Moderate reduction of beta-globin gene transcript by a novel

  2011cites this paper
• MOLECULAR HETEROGENEITY OF b-THALASSEMIA IN ALGERIA : HOW TO FACE UP TO A MAJOR HEALTH

  2009cites this paper
• Molecular Heterogeneity of β-Thalassemia in Algeria: How to Face Up to a Major Health Problem

  2009cites this paper
• Drépanocytose de l'adulte

  2009cites this paper
• The Rare Codon 24 (T>A) (β+) Mutation in Association with the Common Codon 39 (C> T) (β0) Mutation Causes Transfusion-Dependent β-Thalassemia in a Moroccan Patient

  2009cites this paper
• [Guidelines for management of adult sickle cell disease].

  2009cites this paper
• Analysis of β globin mutations in the Indian population: presence of rare and novel mutations and region‐wise heterogeneity

  2008cites this paper
• Molecular Basis of β-Thalassemia and Other Hemoglobinopathies in Bulgaria: An Update

  2007cites this paper
• First Spanish Case Of Thalassemia Major Due to a Compound Heterozygosity for the IVS-II-848 (C→A) And Codon 39 (C→T) Mutations Of The β-Globin Gene

  2006cites this paper
• Mutations Associated with Beta-Thalassemia intermedia in Kuwait

  2005cites this paper
• Nucleotide −88 (C‐T) promoter mutation is a common β‐thalassemia mutation in the Jat Sikhs of Punjab, India

  2005cites this paper
• Fatal splenic sequestration crisis with multiorgan failure in an adult woman with sickle cell-beta+ thalassemia.

  2005cites this paper
• Genetic modifiers of beta-thalassemia.

  2005cites this paper
• An interplay of alleviating mutations in the clinical phenotype of beta-thalassaemia intermedia.

  2004cites this paper
• Molecular pathology of thalassemia intermedia.

  2004cites this paper
• Altered regulation of beta-like globin genes by a redesigned erythroid transcription factor.

  2004cites this paper
• Observations on the Levels of Hb A, in Patients With Different @-Thalassemia Mutations and a 6 Chain Variant

  2003cites this paper
• Asymptomatic homozygous deletional beta(0)-thalassemia in an African individual.

  2002cites this paper
• FORTY-FOUR YEARS (1955–1999) DEVOTED TO HEMOGLOBIN RESEARCH: TITUS H. J. HUISMAN (1923–1999)

  2001cites this paper
• SEVERE β THALASSEMIA IN FRAMESHIFT CODON 6 (–A) HOMOZYGOTES: EFFECTS OF HAPLOTYPE ON PHENOTYPE

  2001cites this paper
• Phenotype—genotype relationships in monogenic disease: lessons from the thalassaemias

  2001cites this paper
• Molecular pathogenesis and clinical variability of beta-thalassemia syndromes among Indians.

  2001cites this paper
• Jamaican Sβ+‐thalassaemia: mutations and haematology

  2000cites this paper
• Fetal hemoglobin expression in the compound heterozygous state for−117 (G→A) Aγ HPFH and IVS‐1 nt 110 (G→A) β+ thalassemia: a case study

  2000cites this paper
• Identification of Three Rare β-Thalassemia Mutations in the Pakistani Population

  2000cites this paper
• Identification of three rare beta-thalassemia mutations in the Pakistani population.

  2000cites this paper
• Fetal hemoglobin expression in the compound heterozygous state for −117 (G→A) Aγ HPFH and IVSII‐745 (C→G) β+ thalassemia: A case study

  1999cites this paper
• Heterogeneity of four beta-thalassemia mutations in Greece.

  1999cites this paper
• The regulation of beta globin gene expression and beta thalassemia.

  1999cites this paper
• Fetal hemoglobin expression in the compound heterozygous state for -117 (G-->A) Agamma HPFH and IVSII-745 (C-->G) beta+ thalassemia: a case study.

  1999cites this paper
• Prevalence and molecular basis of alpha thalassaemia in British South Asians.

  1998cites this paper
• Another example of the beta-thalassemia mutation, IVS-I (-2) or codon 30 (A-->G), found in a Chinese family.

  1998cites this paper
• Aus den Kliniken und Polikliniken für Kinderheilkunde und Kinderchirurgie des Universitätsklinikums Charité

  1998cites this paper
• 3 β-Thalassaemia

  1998cites this paper
• Regression of extramedullary haemopoiesis and augmentation of fetal haemoglobin concentration during hydroxyurea therapy in β thalassaemia

  1998cites this paper
• Increase in Hemoglobin Concentration during Therapy with Hydroxyurea in Cooley's Anemia

  1998cites this paper
• The beta- and delta-thalassemia repository (Ninth Edition; Part I).

  1998cites this paper
• Historical note: the beta-thalassemia allele in the noble Russian family Lermontov is identified as the ATG-->ACG change in the initiation codon.

  1998cites this paper
• Beta-thalassaemia.

  1998cites this paper
• The thalassemia repository (Ninth Edition; Part II).

  1998cites this paper
• Molecular Diagnosis and Carrier Screening for β Thalassemia

  1997cites this paper
• Combinations of beta chain abnormal hemoglobins with each other or with beta-thalassemia determinants with known mutations: influence on phenotype.

  1997cites this paper
• Homozygous deletion of the p16/MTS1 gene in pediatric acute lymphoblastic leukemia is associated with unfavorable clinical outcome.

  1997cites this paper
• Molecular diagnosis and carrier screening for beta thalassemia.

  1997cites this paper
• Genetic Heterogeneity of β-Thalassemia in Populations of the Iberian Peninsula

  1997cites this paper
• Genetic heterogeneity of beta-thalassemia in populations of the Iberian Peninsula.

  1997cites this paper
• Molecular basis of asymptomatic beta-thalassemia major in an African American individual.

  1997cites this paper
• Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter.

  1997cites this paper
• Hb Costa Rica or α2β277(EF1)His→Arg: The first example of a somatic cell mutation in a globin gene

  1996cites this paper
• Silencing of human fetal globin expression is impaired in the absence of the adult beta-globin gene activator protein EKLF.

  1996cites this paper
• Hb Costa Rica or alpha 2 beta 2 77(EF1)His --> Arg: the first example of a somatic cell mutation in a globin gene.

  1996cites this paper
• A de novo Deletion Causing εγδβ-Thalassemia in a Dutch Patient

  1996cites this paper
• A de novo deletion causing epsilon gamma delta beta-thalassemia in a Dutch patient.

  1996cites this paper
• Globin mRNA in beta-thalassemia heterozygotes with different beta-thalassemia alleles and in heterozygotes for hereditary persistence of fetal hemoglobin.

  1996cites this paper
• Molecular characterization of β‐thalassemia mutations in Guadeloupe

  1996cites this paper
• Moderate reduction of beta-globin gene transcript by a novel mutation in the 5' untranslated region: a study of its interaction with other genotypes in two families.

  1996cites this paper
• Deletions of the p16 gene in pediatric leukemia and corresponding cell lines.

  1996cites this paper
• Hb Costa Rica or ·2‚277(EF1)His→Arg: the first example of a somatic cell mutation in a globin gene

  1996cites this paper
• The molecular basis for phenotypic variability of the common thalassaemias.

  1995cites this paper
• The β- and δ-Thalassemia Repository (Eighth Edition)

  1995cites this paper
• Reverse dot-blot detection of the African-American beta-thalassemia mutations.

  1995cites this paper
• Advances in the prenatal and molecular diagnosis of the hemoglobinopathies and thalassemias.

  1995cites this paper
• Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2 in a Caucasian family from Alabama.

  1995cites this paper
• Pitfalls in newborn hemoglobinopathy screening: failure to detect beta(+)-thalassemia.

  1995cites this paper
• Prevention of beta-thalassemia major and Hb Bart's hydrops fetalis syndrome.

  1995cites this paper
• The beta- and delta-thalassemia repository (eighth edition).

  1995cites this paper
• Hb Lulu Island (alpha 2 beta 2 107[G9]Gly-->Asp)-beta zero- thalassemia (codon 15; TGG-->TAG), a form of thalassemia intermedia.

  1995cites this paper
• Distribution of beta-thalassemia mutations in three Asian Indian populations with distant geographical locations.

  1994cites this paper
• Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with β‐thalassaemia due to a homozygosity for the IVS‐I‐6 (T→C) mutation

  1994cites this paper
• The spectrum of beta-thalassemia mutations in the Oran region of Algeria.

  1994cites this paper
• Sickle cell anemia, sickle cell β-thalassemia, and thalassemia major in Albania: characterization of mutations

  1994cites this paper
• Molecular characterization of beta-thalassemia in north Jordan.

  1994cites this paper
• The in vivo expression of the globin genes of the beta cistron in gamma-, delta-, and delta beta-thalassemia heterozygotes.

  1994cites this paper
• Polymorphic pattern of the (AT)x(T)y motif at −530 5′ to the β‐globin gene in over 40 patients homozygous for various β‐thalassemia mutations

  1994cites this paper
• Beta-thalassemia intermedia in a Lebanese child due to homozygosity for the -88 (C-->T) mutation.

  1994cites this paper
• Increased HbF in adult life.

  1993cites this paper
• Beta-thalassemia mutations in the Portuguese; high frequencies of two alleles in restricted populations.

  1993cites this paper