|
Cooley's anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Beta (β) thalassemia major is a genetic blood disorder with a deficiency in the hemoglobin beta chain, requiring blood transfusion therapy.
|
30091793 |
2019 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell anemia (SCA) and β -thalassemia major are well-recognized beta-globin gene disorders of red blood cells associated to mortality and morbidity included bone morbidities due to ineffective erythropoiesis and bone marrow expansion, which affect every part of the skeleton.
|
29447888 |
2018 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Beta thalassemia major (BT) is an inherited blood disorder caused by reduced or absent synthesis of the hemoglobin beta chains, associated with profound anemia, jaundice, splenomegaly, expanded bone marrow volume, siderosis and cardiomegaly.
|
29068574 |
2017 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cooley anemia (CA), or β-thalassemia major, is the most severe form of the disease and occurs when an individual has mutations in both copies of the adult β-globin gene.
|
29296892 |
2017 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
β-thalassemia major is a hereditary recessive blood disease with deficiency in the hemoglobin beta chain.
|
27132015 |
2016 |
|
Cooley's anemia
|
0.700 |
Biomarker
|
disease |
CTD_human |
Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice.
|
23975182 |
2014 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We investigated the influence of β-globin gene mutation in patients with β-TM on the clinical outcome of HSCT and conducted a prospective study of consecutive β-TM patients who underwent allogeneic HSCT at our center.
|
25017762 |
2014 |
|
Cooley's anemia
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hemoglobinopathies: clinical manifestations, diagnosis, and treatment.
|
21886666 |
2011 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A 13-bp deletion in the 3' untranslated region of the β-globin gene causes β-thalassemia major in compound heterozygosity with IVSII-1 mutation.
|
21757944 |
2011 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major.
|
19486366 |
2010 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Certain beta globin gene mutations produce a thalassemia major phenotype in the heterozygous state.
|
19852066 |
2010 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To study the cause of beta-thalassemia major in this patient, we performed the 100K single nucleotide polymorphism genotyping assay, fluorescence in situ hybridization, and DNA methylation analysis of the imprinting genes near the HBB gene.
|
18413893 |
2008 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The clinical severity in thalassaemia major (TM) depends on the underlying mutations of the beta-globin gene and the degree of iron overload.
|
16800840 |
2006 |
|
Cooley's anemia
|
0.700 |
Biomarker
|
disease |
CTD_human |
mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models.
|
16755567 |
2006 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To confirm the observation that this large deletion is the commonest beta-globin gene mutation among the Kadazandusun and other indigenous populations in Sabah, Malaysia, we performed polymerase chain reaction (PCR) analysis of the beta-globin gene in ten children with beta-thalassaemia major attending the Thalassaemia Centre, Queen Elizabeth Hospital, the major paediatric referral centre in Kota Kinabalu, Sabah.
|
15968446 |
2005 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
With the above considerations, we developed an accurate and reliable strategy for analysis of beta-globin gene mutations, applicable for PGD for the wide spectrum of beta-thalassemia major mutations in the Chinese population.
|
12913871 |
2003 |
|
Cooley's anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer.
|
12480689 |
2003 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
With the above considerations we developed an accurate and reliable strategy for analysis of beta-globin gene mutations, applicable for PGD for the wide spectrum of beta-thalassaemia major genotypes in the Greek population.
|
10660958 |
1999 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The analysis of polymorphic markers within the beta globin cluster in 39 individuals heterozygous for beta thalassemia or Hb Lepore confirms the previous findings for homozygous beta thalassemia: the presence of both an (AT)9 T5 sequence configuration at position -540 of the beta globin gene and a (C --> T) variation at -158 of the Ggamma globin gene is associated with elevated expression of HbF.
|
9544969 |
1998 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Beta-thalassemia major (TM) is caused by any of approximately 150 mutations within the beta-globin gene.
|
7579421 |
1995 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To characterize mutations rapidly in 43 patients with beta-thalassemia major in Taiwan, we utilized a method of natural and amplified created restriction site (ACRS) analysis for detection of beta-globin gene mutation.
|
8161731 |
1993 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Beta-thalassemia major resulting from a compound heterozygosity for the beta-globin gene mutation: further evidence for multiple origin and migration of the thalassemia gene.
|
1351038 |
1992 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The beta+ IVS-I nt 6 of the beta-globin gene and the C----T substitution at position -158 5' of the G gamma-globin gene were detected more frequently in patients with thalassemia intermedia or late-presenting thalassemia major considered together as compared to those affected by typical transfusion-dependent thalassemia major.
|
1725229 |
1991 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene.
|
1856830 |
1991 |
|
Cooley's anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Chorionic villus sampling or amniocentesis was done in 35 pregnancies to obtain fetal cells for DNA linkage study, for which Southern blotting and DNA hybridization were used to detect seven restriction fragment length polymorphisms (RFLPs) within the beta-globin gene cluster: epsilon-HincII, G gamma-HindIII, A gamma-HindIII, phi beta-HincII, 3' phi beta-HincII, beta-AvaII, and 3' beta-BamHI. beta-Thalassaemia major was diagnosed in seven and excluded in 22 pregnancies.
|
1973294 |
1990 |