|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
Unexpected severe phenotype in the family members may result from coexistence of extra α-globin genes, which is an important factor in the causation of thalassemia intermedia and major in heterozygous β-thalassemia.
|
26343893 |
2015 |
|
beta Thalassemia, heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this report, we describe a novel missense mutation in δ-globin (HBD: c.323G>A, Gly > Asp) in an Indian family with heterozygous β-thalassemia with normal HbA(2) levels.
|
22477537 |
2012 |
|
beta Thalassemia, heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia.
|
19794088 |
2009 |
|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
In particular, HbA(2) determination plays a key role in screening programs for beta-thalassemia because a small increase in this fraction is one of the most important markers of beta-thalassemia heterozygous carriers.
|
19591816 |
2009 |
|
beta Thalassemia, heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients.
|
18249014 |
2008 |
|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
Further analysis revealed that one of them has a previously unreported molecular basis for severe thalassemia intermedia, homozygosity for quadruplicated alpha globin genes in combination with heterozygous beta thalassemia.
|
15947092 |
2005 |
|
beta Thalassemia, heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three additional families with heterozygous beta-thalassemia had excess alpha-globin genes (5 or 6 total).
|
8980256 |
1997 |
|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemia.
|
9209003 |
1997 |
|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
From these results, we may conclude that subjects with borderline HbA2, particularly when they marry a typical beta-thal carrier, should be extensively investigated in order not to miss heterozygous beta-thalassemia.
|
8172199 |
1994 |
|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
The classical phenotype of heterozygous beta-thalassemia may be modified by a number of environmental and genetic interacting factors--among which the most relevant are: (1) coinheritance of alpha-thalassemia, which may normalize the red blood cell indices; (2) the presence of a mild beta-thalassemia mutation; (3) cotransmission of delta-thalassemia which may reduce the increase of HbA2 typical of heterozygous beta-thalassemia to normal values and (4) the presence of a silent mutation which can be defined only by imbalanced beta-globin chain synthesis.
|
8205005 |
1994 |
|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although iron deficiency appeared to be associated with a reduction in HbA2 quantity in the patient with heterozygous beta-thalassemia, the level of HbA2 did not fall below the range characteristic of beta-thalassemia.
|
8484391 |
1993 |
|
beta Thalassemia, heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
From these results, we may conclude that the inheritance of a mild beta-thalassemia allele such as the beta+ IVS-I nt 6 mutation, in the homozygous or heterozygous state, the coinheritance with homozygous beta zero-thalassemia of the -158 (C----T) G gamma gene promoter mutation and the presence of heterozygous beta-thalassemia/triple alpha-globin gene arrangement are the most common reasons accounting for the development of attenuated forms of beta-thalassemia in Puglia.
|
1725229 |
1991 |
|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
We describe a Canadian family of Czechoslovakian descent that came to our attention because of an HbA2 percentage approximately twice that of an average case of heterozygous beta-thalassemia.
|
3799598 |
1986 |
|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
Globin chain synthesis and DNA restriction enzyme analysis showed that the unusual severity of heterozygous beta-thalassemia observed in this family is related to an overproduction of alpha-globin chains originating from an alpha-globin gene triplication.
|
3012927 |
1985 |
|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
We suggest, therefore, that screening programs for heterozygous beta-thalassemia in populations where alpha-thalassemia is also prevalent, should incorporate the determination of HbA2 in the first set of tests.
|
6305442 |
1983 |
|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
The combination of heterozygous beta-thalassemia with the heterozygous state for the triple alpha-globin loci produced no clinical manifestations and showed a hematologic phenotype indistinguishable from that of heterozygous beta-thalassemia.
|
6313095 |
1983 |
|
beta Thalassemia, heterozygous
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We studied a family in which four patients with heterozygous beta-thalassemia had HbA2 levels of 8.4% to 11.2%.
|
6288819 |
1982 |
|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
In Hb E-beta-thalassemia the betaA + betaE (alpha globin nRNA ratio observed were substantially lower than those obtained from reticulocytes of patients with heterozygous beta-thalassemia, or Hb S-betaO-thalassemia, while in Hb E trait, the betaA + betaE/alpha mRNA ratio was in the ranged observed for beta-thalassemia trait.
|
6166632 |
1981 |
|
beta Thalassemia, heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
Equal synthesis is probably due both to a decrease in alpha-chain synthesis and an increase in beta-chain synthesis in bone marrow erythroid cells and may contribute to the absence of overt hemolysis due to excess alpha-globin chain accumulation in heterozygous beta-thalassemia.
|
5032531 |
1972 |