beta-Thalassemia Concept

subject area of

• A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression  Journal Articles
• A Mild Phenotype of Severe β+ Thalassemia in a 16-Month-Old Boy  Journal Articles
• A Novel Human β-Globin Gene Variant [Hb London-Ontario,HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait  Journal Articles
• A phase 2 study of HQK‐1001, an oral fetal haemoglobin inducer, in β‐thalassaemia intermedia  Journal Articles
• A phase 2 trial of HQK-1001 in HbE-β thalassemia demonstrates HbF induction and reduced anemia  Journal Articles
• A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β⁰‐thalassaemia homozygotes  Journal Articles
• An Algorithm to Aid in the Investigation of Thalassemia Trait in Multicultural Populations  Journal Articles
• BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies  Journal Articles
• Characterisation of a novel 49·3 kb ^Gγ(^Aγδβ)⁰‐thalassaemia deletion in seven families of Asian descent  Journal Articles
• Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles  Journal Articles
• Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene  Journal Articles
• Clinical phenotypes of three children with sickle cell disease caused by HbS/Sicilian (δβ)⁰‐thalassemia deletion  Journal Articles
• Coinheritance of α-thalassemia-1 and hemoglobin E/β0-thalassemia: Practical implications for neonatal screening and genetic counseling  Journal Articles
• Consensus statement for the perinatal management of patients with α thalassemia major  Journal Articles
• Correspondence  Journal Articles
• DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG)  Journal Articles
• De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European  Journal Articles
• Deferiprone-related arthropathy of the knee in a thalassemic patient: report of a case and review of the literature  Journal Articles
• Discovery-Based Proteomics Identify Skeletal Muscle Mitochondrial Alterations as an Early Metabolic Defect in a Mouse Model of β-Thalassemia  Journal Articles
• Diverse hematological phenotypes of β‐thalassemia carriers  Journal Articles
• Dominantly inherited β thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the β globin gene: Hb morgantown (β91 CTG>CG)  Journal Articles
• Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia  Journal Articles
• Elimination of Transfusions Through Induction of Fetal Hemoglobin Synthesis in Cooley's Anemia^a  Journal Articles
• Emerging insights in the management of hemoglobin E beta thalassemia  Journal Articles
• Fetal globin gene inducers: novel agents and new potential  Journal Articles
• Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5′ olfactory receptor gene cluster  Journal Articles
• Filipino ?-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis  Journal Articles
• Genetic studies of fetal hemoglobin in the Arab‐Indian haplotype sickle cell‐β⁰ thalassemia  Journal Articles
• Haemoglobin E β thalassaemia in Sri Lanka  Journal Articles
• Hb A₂Hong Kong – A Novel δ-Globin Variant in a Chinese Family Masks the Diagnosis of β-Thalassemia Trait  Journal Articles
• Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the   locus control region  Journal Articles
• Hemoglobin E/β Thalassemia: The Canadian Experience  Journal Articles
• Hemoglobin E‐β‐Thalassemia: Progress Report from the International Study Group  Conferences
• Hemoglobinopathies mimicking Hb S/β‐thalassemia: Hb S/S with α‐thalassemia and Hb S/Volga  Journal Articles
• High Hb A₂β-Thalassemia Due to a 468 bp Deletion in a Patient with Hb S/β-Thalassemia  Journal Articles
• IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C)  Journal Articles
• Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)]  Journal Articles
• Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A₂-MUMC [δ13(A10)Ala → Asp]  Journal Articles
• Identification of a novel β⁰ ‐ thalassaemia mutation in a greek family and subsequent prenatal diagnosis  Journal Articles
• Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion  Journal Articles
• Increase in Hemoglobin Concentration during Therapy with Hydroxyurea in Cooley's Anemia  Journal Articles
• Inflammation and oxidant-stress in  -thalassemia patients treated with iron chelators deferasirox (ICL670) or deferoxamine: an ancillary study of the Novartis CICL670A0107 trial  Journal Articles
• Iron overload in transfusion-dependent survivors of hemoglobin Bart’s hydrops fetalis  Journal Articles
• Is HbA₂ level a reliable diagnostic measurement for β‐thalassemia trait in people with iron deficiency?  Journal Articles
• Lack of progressive hepatic fibrosis during long-term therapy with deferiprone in subjects with transfusion-dependent beta-thalassemia  Journal Articles
• MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis  Journal Articles
• Mild β⁺-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A)  Journal Articles
• NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)]  Journal Articles
• New and Known β-Thalassemia Determinants Masked by Known and New δ Gene Defects [Hb A₂-Ramallah or δ6(A3)Glu→Gln,GAG>>CAG]  Journal Articles
• Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup)  Journal Articles
• Normal Hb A₂β-Thalassemia Trait: Frameshift Mutation (HBB: c.187_251dup) inCiswith the Hb A_2’δ-Globin Gene Missense Mutation (HBD: c.49G>C)  Journal Articles
• Novel dominant β‐thalassemia: Hb Boston‐Kuwait [Codon 139/140(+T)]  Journal Articles
• Novel β-Thalassemia Mutation In Patients of Jewish Descent: [β30(B12)ARGGLY OR IVS-I (-2) (AG)]  Journal Articles
• Novel β°-Thalassemia Mutation in a Canadian Woman of British Descent (Codons 72/73, -Agtga, +T)  Journal Articles
• Patients with thalassemia in the United States  Journal Articles
• Prenatal exclusion of β thalassaemia major by examination of maternal plasma  Journal Articles
• Prevalence and Genotypes of α- and β-Thalassemia Carriers in Hong Kong — Implications for Population Screening  Journal Articles
• Prevalence of Thalassemia in Patients With Microcytosis Referred for Hemoglobinopathy Investigation in Ontario  Journal Articles
• Routine Screening of (--^SEA) α-Thalassemia Deletion by an Enzyme-Linked Immunosorbent Assay for Embryonic ζ-Globin Chains  Journal Articles
• Screening and counseling for thalassemia  Journal Articles
• Severity of β‐thalassemia due to genotypes involving the IVS‐I‐6 (T→C) mutation  Journal Articles
• Single-Tube Multiplex-PCR Screen for Anti-3.7 and Anti-4.2 α-Globin Gene Triplications  Journal Articles
• Spectrum of β-Thalassemia Mutations in Egypt  Journal Articles
• Splice Acceptor Mutation [ HBB :c.93-2A > T] in a Patient with Hb S/β ⁰ -Thalassemia  Journal Articles
• Studies in haemoglobin E beta‐thalassaemia  Journal Articles
• Sudanese (δβ)⁰-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion  Journal Articles
• Survival and complications in patients with haemoglobin E thalassaemia in Sri Lanka: a prospective, longitudinal cohort study  Journal Articles
• THE Hb S/β⁺-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele  Journal Articles
• Thalassemia in Sri Lanka: a progress report  Journal Articles
• The Evaluation of Various Mathematical RBC Indices and Their Efficacy in Discriminating Between Thalassemic and Non-Thalassemic Microcytosis  Journal Articles
• The First Report of a Homozygous Codons 9/10 (+T) β-Thalassemia Mutation in a Turkish Patient  Journal Articles
• The clinical significance of hemoglobinopathies in the Hamilton region: a twenty-year review  Journal Articles
• The feasibility of a sensitive low-dose method for thein vivoevaluation of Fe in skin using K-shell x-ray fluorescence (XRF)  Journal Articles
• The genetic basis of asymptomatic codon 8 frame‐shift (HBB:c25_26delAA) β⁰‐thalassaemia homozygotes  Journal Articles
• The use of skin Fe levels as a surrogate marker for organ Fe levels, to monitor treatment in cases of iron overload  Journal Articles
• Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening  Journal Articles
• Three New β-Thalassemia Mutations with Varying Degrees of Severity  Journal Articles
• Treatment of Two Infants with Cooley's Anemia with Sodium Phenylbutyrate  Journal Articles
• Treatment of thalassaemia major with phenylbutyrate and hydroxyurea  Journal Articles
• Update on the use of hydroxyurea therapy in sickle cell disease  Journal Articles
• Variation and heritability of Hb F and F‐cells among β‐thalassemia heterozygotes in Hong Kong  Journal Articles
• β ⁰ -Thalassemia Caused by a Novel Nonsense Mutation [ HBB: c.199A > T]  Journal Articles
• β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation  Journal Articles
• β⁺-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C]  Journal Articles
• β‐thalassemia in association with a new δ‐chain hemoglobin variant [δ116(g18)Arg→Leu]: Implications for carrier screening and prenatal diagnosis  Journal Articles
• β‐thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (‐CTTT) β ⁰ ‐thalassemia mutation  Journal Articles
• β‐thalassemia intermedia due to compound heterozygosity for two β‐globin gene promoter mutations, including a novel TATA box deletion  Journal Articles