Related references
Note: Only part of the references are listed.A roadmap for the standardization of hemoglobin A2
Andrea Mosca et al.
CLINICA CHIMICA ACTA (2021)
Molecular Characterization of β- and α-Globin Gene Mutations in Individuals with Borderline Hb A2 Levels
Surada Satthakarn et al.
HEMOGLOBIN (2020)
Borderline hemoglobin A2 levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia
Phumin Chaweephisal et al.
BLOOD CELLS MOLECULES AND DISEASES (2019)
Differential role of Kruppel like factor 1 (KLF1) gene in red blood cell disorders
Priya Hariharan et al.
GENOMICS (2019)
Evaluation of the suitability of the World Health Organization International Reference Reagent for Hb A2 quantitation (89/666) for continued use
Barbara De la Salle et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2019)
KLF1 gene and borderline hemoglobin A2 in Saudi population
J. Francis Borgio et al.
ARCHIVES OF MEDICAL SCIENCE (2018)
Calibration by commutable control materials is able to reduce inter-method differences of current high-performance methods for HbA2
Renata Paleari et al.
CLINICA CHIMICA ACTA (2018)
Hemoglobin A2 (HbA2) has a measure of unreliability in diagnosing β-thalassemia trait (β-TT)
Amani M. Al-Amodi et al.
CURRENT MEDICAL RESEARCH AND OPINION (2018)
Molecular characterization of α- and β-thalassemia in the Yulin region of Southern China
Sheng He et al.
GENE (2018)
Compound Heterozygosity for Silent Cap +1570 (T>C) (HBB: c*96T>C), Codon 39 (C>T) (HBB: c.118C>T) and the Presence of anti-3.7/ in Greece. A Case Presentation
Stamatia Theodoridou et al.
HEMOGLOBIN (2018)
Analysis of the Genotypes in a Chinese Population with Increased Hb A2 and Low Hematological Indices
Fan Jiang et al.
HEMOGLOBIN (2018)
Phenotype of mutations in the promoter region of the β-globin gene
Paloma Ropero et al.
JOURNAL OF CLINICAL PATHOLOGY (2017)
β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint
Vincenzo De Sanctis et al.
MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES (2017)
Developing a reference system for the IFCC standardization of HbA2
Renata Paleari et al.
CLINICA CHIMICA ACTA (2017)
Does the Novel KLF1 Gene Mutation Lead to a Delay in Fetal Hemoglobin Switch?
Priya Hariharan et al.
ANNALS OF HUMAN GENETICS (2017)
Detection of the common South-East Asian β0-thalassemia mutations in samples with borderline HbA2 levels
Pitchaporn Rungsee et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2017)
Different switching patterns of -thalassaemic mutations at the proximal and distal CACCC box of the human HBB (-globin) gene
Maria F. Marongiu et al.
BRITISH JOURNAL OF HAEMATOLOGY (2016)
Co-heredity of silent CAP+1570 T>C (HBB:c*96T>C) defect and severe -thal mutation: a cause of mild -thalassemia intermedia
M. Vinciguerra et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2016)
Effect of antiretroviral therapy on hemoglobin A2 values can have implications in antenatal beta-thalassemia screening programs
Priyanka Bhagat et al.
INFECTIOUS DISEASES (2016)
The Problem of Borderline Hemoglobin A2 Levels in the Screening for β-Thalassemia Carriers in Sardinia
Maria Elisabetta Paglietti et al.
ACTA HAEMATOLOGICA (2016)
Diverse phenotypes and transfusion requirements due to interaction of β-thalassemias with triplicated α-globin genes
Pallavi R. Mehta et al.
ANNALS OF HEMATOLOGY (2015)
A large cohort of β+-thalassemia in Thailand: Molecular, hematological and diagnostic considerations
Supawadee Yamsri et al.
BLOOD CELLS MOLECULES AND DISEASES (2015)
HbA2: biology, clinical relevance and a possible target for ameliorating sickle cell disease
Martin H. Steinberg et al.
BRITISH JOURNAL OF HAEMATOLOGY (2015)
Hb Lansing (HBA2: c.264C>G) and a New β Promoter Transversion [-52 (G>T)]: An Attempt to Define the Phenotype of Two Mutations Found in the Omani Population
Suha M. Hassan et al.
HEMOGLOBIN (2015)
Identification of a Novel Mutation in the β-Globin Gene 3′ Untranslated Region (HBB: c.*+118A > G) in Spain
Maria Ascension Herrera et al.
HEMOGLOBIN (2015)
Association of an alpha-Globin Gene Cluster Duplication and Heterozygous beta-Thalassemia in a Patient with a Severe Thalassemia Syndrome
Hua Jiang et al.
HEMOGLOBIN (2015)
Kruppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations
J. S. Waye et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2015)
ICSH recommendations for assessing automated high-performance liquid chromatography and capillary electrophoresis equipment for the quantitation of HbA2
A. D. Stephens et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2015)
Challenges in prenatal diagnosis of beta thalassaemia: couples with normal HbA2 in one partner
Manju Gorivale et al.
PRENATAL DIAGNOSIS (2015)
Impact of iron deficiency on hemoglobin A2% in obligate β-thalassemia heterozygotes
P. Sharma et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2015)
Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression
Vip Viprakasit et al.
BLOOD (2014)
Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals
Ji-Wu Lou et al.
BLOOD CELLS MOLECULES AND DISEASES (2014)
Masking of a β-Thalassemia Determinant by a Novel δ-Globin Gene Defect [Hb A2-Saurashtra or δ100(G2)Pro→Ser; HBD: c.301C > T] in Cis
Stacy Colaco et al.
HEMOGLOBIN (2014)
IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology
Petros Kountouris et al.
PLOS ONE (2014)
HbA2 levels in normal adults are influenced by two distinct genetic mechanisms
Stephan Menzel et al.
BRITISH JOURNAL OF HAEMATOLOGY (2013)
SILENT beta-THALASSEMIA MUTATIONS AT-101 (C > T) AND-71 (C > T) AND THEIR COINHERITANCE WITH THE SICKLE CELL MUTATION IN BAHRAIN
Nabeel J. Al Moamen et al.
HEMOGLOBIN (2013)
Two novel mutations in the 3′ untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia
T. Bilgen et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2013)
The Molecular Basis of β-Thalassemia
Swee Lay Thein
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2013)
Is HbA2 level a reliable diagnostic measurement for ß-thalassemia trait in people with iron deficiency?
Madeleine Verhovsek et al.
AMERICAN JOURNAL OF HEMATOLOGY (2012)
Compromising for carrier detection of beta thalassemia based on measurement of HbA2 levels in unusual cases
Stacy Colaco et al.
CLINICA CHIMICA ACTA (2012)
Variable haematological and clinical presentation of β-thalassaemia carriers and homozygotes with the Poly A (T→C) mutation in the Indian population
Khushnooma Italia et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2012)
Iron deficiency does not compromise the diagnosis of high HbA2 β thalassemia trait
Cristina Passarello et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2012)
IS THE POLY A (T>C) MUTATION A CAUSATIVE FACTOR FOR MISDIAGNOSIS IN SECOND TRIMESTER PRENATAL DIAGNOSIS OF β-THALASSEMIA BY FETAL BLOOD ANALYSIS ON HIGH PERFORMANCE LIQUID CHROMATOGRAPHY?
Khushnooma Y. Italia et al.
HEMOGLOBIN (2012)
Screening for the beta-thalassaemia trait: hazards among populations of West African Ancestry
Felicea Gibson et al.
JOURNAL OF COMMUNITY GENETICS (2012)
β-Thalassemia mutations in subjects with borderline HbA2 values: a pilot study in North India
Aruna Rangan et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2011)
Co-Inheritance of beta- and delta-Thalassemia Compromising Prenatal Screening in a Chinese Couple Seeking Prevention
Jian Li et al.
FETAL DIAGNOSIS AND THERAPY (2011)
Hb A(2) HONG KONG - A NOVEL delta-GLOBIN VARIANT IN A CHINESE FAMILY MASKS THE DIAGNOSIS OF beta-THALASSEMIA TRAIT
Chi-Chiu So et al.
HEMOGLOBIN (2011)
THE CARRIER FREQUENCY OF alpha-GLOBIN GENE TRIPLICATION IN AN IRANIAN POPULATION WITH NORMAL OR BORDERLINE HEMATOLOGICAL PARAMETERS
Seyedeh Fatemeh Moosavi et al.
HEMOGLOBIN (2011)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)
GENOTYPE-PHENOTYPE RELATIONSHIP OF THE delta-THALASSEMIA AND Hb A(2) VARIANTS: OBSERVATION OF 52 GENOTYPES
Giuseppina Lacerra et al.
HEMOGLOBIN (2010)
NEW AND KNOWN beta-THALASSEMIA DETERMINANTS MASKED BY KNOWN AND NEW delta GENE DEFECTS [Hb A(2)-Ramallah OR delta 6(A3)Glu -> Gln, GAG >> CAG]
Marion Phylipsen et al.
HEMOGLOBIN (2010)
The 4-bp deletion (-AAAC) in the 5' untranslated region of the β-globin gene: a simple polymorphism?
Dong-Zhi Li et al.
ANNALS OF HEMATOLOGY (2009)
The significance of the hemoglobin A2 value in screening for hemoglobinopathies
Antonino Giambona et al.
CLINICAL BIOCHEMISTRY (2009)
First Identification of a Point Mutation at Position-83 (GA) of the -Globin Gene Promoter
Estelle Cadet et al.
HEMOGLOBIN (2009)
Frequency of -Globin Gene Triplications and Their Interaction with -Thalassemia Mutations
Piero C. Giordano et al.
HEMOGLOBIN (2009)
The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies
A. Mosca et al.
JOURNAL OF CLINICAL PATHOLOGY (2009)
New analytical tools and epidemiological data for the identification of HbA2 borderline subjects in the screening for beta-thalassemia
Andrea Mosca et al.
BIOELECTROCHEMISTRY (2008)
Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype
Belinda K. Singleton et al.
BLOOD (2008)
Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients
C. L. Harteveld et al.
BLOOD CELLS MOLECULES AND DISEASES (2008)
A novel mutation of the p-globin gene promoter (-102 C>A) and pitfalls in family screening
Patricia Aguilar-Martinez et al.
AMERICAN JOURNAL OF HEMATOLOGY (2007)
Mutational spectrum of delta-globin gene in the Portuguese population
Ana Morgado et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2007)
A novel mutation of-73(A→T) in the CCAAT box of the β-globin gene identified in a patient with the mild β-thalassemia intermedia
Xiao-Wei Chen et al.
ANNALS OF HEMATOLOGY (2007)
HPLC studies in hemoglobinopathies
R. B. Colah et al.
INDIAN JOURNAL OF PEDIATRICS (2007)
External quality assessment of hemoglobin A(2) measurement: data from an Italian pilot study with fresh whole blood samples and commercial HPLC systems
Renata Paleari et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2007)
A 65 bp duplication/insertion in exon II of the beta globin gene causing beta(0)-thalassemia
Hannes Frischknecht et al.
HAEMATOLOGICA (2007)
Assessing the impact of screening and counselling high school children for beta-thalassaemia in India
Roshan Colah et al.
JOURNAL OF MEDICAL SCREENING (2007)
Thalassaemia mutations within the 5′UTR of the human β-globin gene disrupt transcription
A Sgourou et al.
BRITISH JOURNAL OF HAEMATOLOGY (2004)
A novel silent β-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF
P Moi et al.
BRITISH JOURNAL OF HAEMATOLOGY (2004)
Impact of β globin gene mutations on the clinical phenotype of β thalassemia in India
R Colah et al.
BLOOD CELLS MOLECULES AND DISEASES (2004)
High frequency of deletional α-thalassemia in β-thalassemia trait:: Implications for genetic counseling
I Panigrahi et al.
AMERICAN JOURNAL OF HEMATOLOGY (2004)
beta+45 G -> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence
M De Angioletti et al.
BRITISH JOURNAL OF HAEMATOLOGY (2004)
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
GP Patrinos et al.
NUCLEIC ACIDS RESEARCH (2004)
Heterocellular hereditary persistence of fetal haemoglobin affects the haematological parameters of β-thalassaemia trait
C Garner et al.
BRITISH JOURNAL OF HAEMATOLOGY (2003)
beta-thalassemia in association with a new delta-chain hemoglobin variant [delta 116(G18)Arg -> Leu]: Implications for carrier screening and prenatal diagnosis
JS Waye et al.
AMERICAN JOURNAL OF HEMATOLOGY (2003)
The effect of iron deficiency anaemia on the levels of haemoglobin subtypes: possible consequences for clinical diagnosis
I El-Agouza et al.
CLINICAL AND LABORATORY HAEMATOLOGY (2002)
The β-globin C→G mutation at 6 bp 3′ to the termination codon causes β-thalassaemia by decreasing the mRNA level
A Sgourou et al.
BRITISH JOURNAL OF HAEMATOLOGY (2002)
Molecular analysis of a Thai beta-thalassaemia heterozygote with normal haemoglobin A(2) level: implication for population screening
S Fucharoen et al.
ANNALS OF CLINICAL BIOCHEMISTRY (2002)
β-Thalassaemia intermedia in a Turkish girl:: homozygosity for G→A substitution at+22 relative to the β-globin cap site
R Öner et al.
BRITISH JOURNAL OF HAEMATOLOGY (2001)
Molecular pathogenesis and clinical variability of β-thalassemia syndromes among Indians
A Nadkarni et al.
AMERICAN JOURNAL OF HEMATOLOGY (2001)
Normal δ globin gene sequence in carrier of the silent-101 (C-T) β-thalassemia mutation with normal HbA2 level
MS Ristaldi et al.
AMERICAN JOURNAL OF HEMATOLOGY (2001)