Detection of common deletional alpha-thalassemia-2 determinants by PCR
We have developed a rapid approach to detect the two most common alpha-thalassemia-2 (alpha-thal-2) determinants by the polymerase chain reaction (PCR) technique, which takes a few hours to complete. Specific oligonucleotides selectively amplify appropriate segments of the chromosome with the deletion and the normal chromosome under identical experimental conditions, and the products are identified by electrophoresis on 1.5% agarose. Characterization of the two most prevalent types of the -alpha 3.7 determinant [-alpha 3.7(I) and -alpha 3.7(II)] can be made by Apa I digestion of the PCR product. Two types of alpha-thal-2 determinants, -alpha 3.7 and -alpha 4.2, were tested in numerous samples from various parts of the world. This approach is believed to provide a cost-effective way to screen large numbers of blood samples in a relatively short time and can be used to identify alpha-thal-2 heterozygotes and homozygotes and compound heterozygotes (-alpha 3.7/-alpha 4.2) in populations where such alpha-gene defects are shown to exist at high frequencies.
Hemoglobinopathies among the Gond tribal groups of central India; interaction of alpha- and beta-thalassemia with beta chain variants
Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes
Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution
The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions
The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene duplication
Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype
A new alpha-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote
Hb Costa Rica or alpha 2 beta 2 77(EF1)His --> Arg: the first example of a somatic cell mutation in a globin gene
Diagnostic complication and molecular characteristics of Hb SC-Chicago disease with alpha-thal-2 (-alpha3.7 deletion): effects of multiple variant on patient's phenotype
Phenotypic heterogeneity of asian Indian inversion deletions gγ(aγδβ)0 breakpoint a and breakpoint B
Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions
The contribution of alpha+-thalassaemia to anaemia in a Nigerian population exposed to intense malaria transmission
Sickle cell trait is associated with a delayed onset of malaria: implications for time-to-event analysis in clinical studies of malaria
MRI follow-up and natural history of avascular necrosis of the femoral head in Kuwaiti children with sickle cell disease
Thalassemia-like phenotype in a novel complex hemoglobinopathy with α, β, δ globin chain abnormalities
Antioxidant deficit and enhanced susceptibility to oxidative damage in individuals with different forms of alpha-thalassaemia
Some observations on the measurement of haemoglobin A2 and S percentages by high performance liquid chromatography in the presence and absence of alpha thalassaemia
Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?
Alpha-2-globin gene polyadenylation (AATAAA-->AATAAG) mutation in hemoglobin H disease among Kuwaitis
Evaluation of a new Sebia kit for analysis of hemoglobin fractions and variants on the Capillarys system
Hemoglobin Pakse: presence on red blood cell membrane and detection by polymerase chain reaction-single-strand conformational polymorphism
Production of a mouse hybridoma secreting monoclonal antibody highly specific to hemoglobin Bart's (gamma4)
High prevalence of alpha- and beta-thalassemia in the Kadazandusuns in East Malaysia: challenges in providing effective health care for an indigenous group
First report of a nonsense mutation at codon 15(TGG-->TAG) in exon 1 of the beta globin gene in a beta thalassemia trait in State of Orissa, India
Silent β-thalassemia mutations at -101 (C>T) and -71 (C>T) and their coinheritance with the sickle cell mutation in Bahrain
A 21 Nucleotide Duplication on the α1- and α2-Globin Genes Involves a Variety of Hypochromic Microcytic Anemias, From Mild to Hb H Disease
Hb Dartmouth (HBA2: c.200T>C): An α2-Globin Gene Associated with Hb H Disease in One Homozygous Patient
Detection of Hb H disease genotypes common in northern Thailand by quantitative real-time polymerase chain reaction and high resolution melting analyses
Identification of two rare β-globin gene mutations in a patient with β-thalassemia intermedia from Azerbaijan
Characterizing a cohort of α-thalassemia couples collected during screening for hemoglobinopathies: 14 years of an Iranian experience
A newly identified deletion of 970 bp at the alpha-globin locus that removes the promoter region of the alpha1 gene
Identification of Hb Constant Spring (HBA2: c.427T > C) by an Automated High Performance Liquid Chromatography Method
Fetal hemoglobin elevation in Hb Lepore heterozygotes and its correlation with beta globin cluster linked determinants
Evaluation of a single-tube multiplex polymerase chain reaction screen for detection of common alpha-thalassemia genotypes in a clinical laboratory
Co-inheritance of the Hb Sun Prairie mutation with a point mutation at 5'-UTR in the eastern Indian population
Human alpha2-globin nonsense-mediated mRNA decay induced by a novel alpha-thalassaemia frameshift mutation at codon 22
Molecular diagnosis of alpha-thalassemia by combining real-time PCR with SYBR Green1 and dissociation curve analysis
Detection of common deletional alpha-thalassemia spectrum by molecular technique in kelantan, northeastern malaysia
Prevalence of α(+)-Thalassemia in the Scheduled Tribe and Scheduled Caste Populations of Damoh District in Madhya Pradesh, Central India
Clinical severity of β-thalassaemia/Hb E disease is associated with differential activities of the calpain-calpastatin proteolytic system
The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival
A quantitative assay to detect α-thalassemia deletions and triplications using multiplex nested real-time quantitative polymerase chain reaction
Lack of associations of α(+)-thalassemia with the risk of Plasmodium falciparum and Plasmodium vivax infection and disease in a cohort of children aged 3-21 months from Papua New Guinea
Molecular characterization of hemoglobin D Punjab traits and clinical-hematological profile of the patients
A novel 33.3 kb deletion (- -KOL) in the alpha-globin gene cluster: a brief report on deletional alpha-thalassaemia in the heterogeneous eastern Indian population
Alpha-, beta-, and gamma-mRNA levels in beta-thalassemia; transcriptional and translational differences in heterozygotes, homozygotes, and compound heterozygotes
Detection of the alpha-thalassemia-2 (3.7 kb) deletion in DNA extracted from 20-year-old blood smears
Hb Sallanches [alpha104(G11)Cys-->Tyr]: a rare alpha2-globin chain variant found in the homozygous state in three members of a Pakistani family
Hb M Dothan [beta 25/26 (B7/B8)/(GGT/GAG-->GAG//Gly/Glu-->Glu]; a new mechanism of unstable methemoglobin variant and molecular characteristics
Frequencies and phenotypic consequences of association of α- and β-thalassemia alleles with sickle-cell disease in Bahrain
MRNA analysis in reticulocytes of subjects with Hb D, Hb Porto Alegre, Hb E, and different types of unstable hemoglobin variants
Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India
Foetal haemoglobin in normal healthy adults: relationship with polymorphic sequences cis to the beta globin gene
High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counseling
Risk of avascular necrosis of the femoral head in children with sickle cell disease on hydroxyurea: MRI evaluation
Thalassemia intermedia in HbH-CS disease with compound heterozygosity for beta-thalassemia: challenges in hemoglobin analysis and clinical diagnosis
The influence of uridine diphosphate glucuronosyl transferase 1A promoter polymorphisms, beta-globin gene haplotype, co-inherited alpha-thalassemia trait and Hb F on steady-state serum bilirubin levels in sickle cell anemia
Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran
Frequency of the 677 C-->T mutation of the methylenetetrahydrofolate reductase gene among Kuwaiti sickle cell disease patients
Detection of three common, deletional alpha-thalassemia determinants in Southern China by a single-tube multiplex polymerase chain reaction method
Influence of alpha-thalassemia trait on spleen function in sickle cell anemia patients with high HbF
Detection of alpha-thalassemia-2 (-3.7 kb) and its corresponding triplication (alpha)(alpha)(alpha) (anti-3.7 kb) by PCR: an improved technical change
Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population
alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis
Detection of zeta-globin chains in the cord blood by ELISA (enzyme-linked immunosorbent assay): rapid screening for alpha-thalassemia 1 (Southeast Asian type)
Hb Rio Claro [beta34(B16)Val-->Met]: a novel electrophoretically silent variant found in association with Hb Hasharon [alpha47(CE5)Asp-->His] and alpha-thalassemia-2(-alpha3.7)
State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies
Molecular prenatal diagnosis of alpha-thalassemia using real-time and multiplex polymerase chain reaction methods
Association of Low Serum Iron with Alpha Globin Gene Deletions and High Level of HbF with Xmn-1 Polymorphism in Sickle Cell Traits
Determination of beta-globin gene cluster haplotypes and prevalence of alpha-thalassemia in sickle cell anemia patients in Venezuela
Heterozygosity for the Novel HBA2 : c.*91_*92delTA Polyadenylation Site Variant on the α2-Globin Gene Expanding the Genetic Spectrum of α-Thalassemia in Iran
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