|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The analyzed variables were type of hemoglobinopathy, gender, coexistence with alpha thalassemia (α-thal), haplotypes of the beta globin chain cluster, and stroke.
|
27268459 |
2017 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
HBB haplotype and presence of α-thalassemia were also determined.
|
22322941 |
2012 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Certain beta globin gene mutations produce a thalassemia major phenotype in the heterozygous state.
|
19852066 |
2010 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Research on the first genetic modulators of SCD, such as coinheritance of α-thalassemia and haplotypes in the β-globin gene cluster, have been followed by studies associating single nucleotide polymorphisms (SNPs) with variable risks for stroke, leg ulceration, pulmonary hypertension, priapism and osteonecrosis, with differences in the response to hydroxyurea, and with variability in the management of pain.
|
21083035 |
2010 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Beta-globin gene cluster haplotypes and alpha-thalassemia in sickle cell disease patients from Trinidad.
|
18257074 |
2008 |
|
alpha-Thalassemia
|
0.500 |
AlteredExpression
|
disease |
LHGDN |
alpha/beta-Globin mRNA ratio determination by multiplex quantitative real-time reverse transcription-polymerase chain reaction as an indicator of globin gene function.
|
17920577 |
2007 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Fifteen thalassemia patients, seven with high HbF and not requiring transfusion, eight with lower HbF and requiring transfusion were studied for beta-globin mutation, concurrent inheritance of alpha-thalassemia, RFLP haplotype, a C-->T polymorphism at -158 of Ggamma and configuration of an (AT)(x)T(y) motif at -540 of beta-globin gene.
|
15946310 |
2005 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Variable severity of beta-thalassemia patients of eastern India: effect of alpha-thalassemia and xmnI polymorphism.
|
11833853 |
2001 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A case of hemoglobin H disease in combination with hemoglobin Constant Spring and a beta-globin chain variant is reported in a 3-yr-old Thai girl.
|
11422410 |
2001 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In a child with clinical and hematological features consistent with beta-thalassemia intermedia, DNA analysis excluded any beta-globin gene mutations but characterized a novel deletion cd37(C2)Pro>0 (Hb Heraklion) in the alpha1 globin gene, in trans to a common Mediterranean nondeletion alpha-thalassemia mutation (alpha(Hph)alpha).
|
11042028 |
2000 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Determination of beta-globin gene cluster haplotypes and prevalence of alpha-thalassemia in sickle cell anemia patients in Venezuela.
|
10814985 |
2000 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Beta-globin gene haplotypes and alpha-thalassemia analysis in Babinga pygmies from Congo-Brazzaville.
|
10803667 |
2000 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe a family with beta thalassaemia, apparently not linked to the beta-globin gene cluster, in combination with alpha thalassaemia.
|
9827907 |
1998 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The effect of genetic factors such as alpha thalassemia or beta-globin gene haplotype has been analyzed in a limited number of cases.
|
9723571 |
1998 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disorder, beta-globin gene cluster haplotypes and alpha-thalassemia in neonates and adults from Guadeloupe.
|
9136913 |
1997 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
1) The -101 C-->T mutation of the promoter of the beta globin gene shows a normal hematological picture with the Hb A2 level often slightly raised and the alpha/beta globin synthesis ratio slightly greater than 1; 2) beta + thalassemia resulting from the IVS II 844 C-->G mutation has a phenotype that is even closer to normal; 3) -alpha 3.7 deletion type I usually has a totally silent phenotype; 4) the alpha Ncol mutation almost always gives rise to a sub-silent phenotype if it is located on gene alpha 2 and to a silent phenotype if it is found on gene alpha 1; 5) alpha + thalassemia due to the alpha 2 Hphl mutation displays a sub-silent phenotype in some cases and a silent one in others; 6) triplication of the alpha genes gives rise to a phenotype that is quite similar to that of the -101 C-->T mutation of the promoter of the beta globin gene, namely one that is very often silent.
|
9234571 |
1997 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil.
|
8892730 |
1996 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We studied 384 adult African-American SS patients (mean age, 31 years) and explored the relationship of gender, beta-globin gene cluster haplotype, and alpha thalassemia to hematological values and Hb F levels.
|
7532353 |
1995 |
|
alpha-Thalassemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Six subjects had coinherited alpha thalassaemia and had more balanced alpha/beta globin chain synthesis ratios than the remaining 10 subjects with uncomplicated heterozygous beta thalassaemia.
|
3593648 |
1987 |
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, we have compared the hemoglobin A2 levels (Hb A2) of alpha-thalassemia carriers (-alpha/-alpha and -alpha/alpha alpha genotypes) with those of double heterozygotes for delta+ and beta thalassemia genes, who were identified by family studies and polymorphic restriction site analysis within the beta-globin gene cluster.
|
2992852 |
1985 |
|
alpha-Thalassemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
alpha-Thalassemia
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
alpha-Thalassemia
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|