|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Natural deletions involving alpha-major regulatory element constitute a particular category of alpha-thalassemia determinants in which the alpha-globin genes are physically intact but functionally inactive.
|
19048483 |
2008 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Over 80% of the α-thalassemia cases in southern China are caused by large deletions involving the α-globin gene cluster on chromosome 16p13.3.
|
20645100 |
2011 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Restriction endonuclease mapping of nondeletion alpha-thalassemia determinants from a variety of racial groups showed no detectable abnormalities within a 40-kilobase region of the zeta-alpha globin gene cluster.
|
6272319 |
1981 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have identified an individual with alpha-thalassemia in whom structurally normal alpha-globin genes have been inactivated in cis by a discrete de novo 35-kilobase deletion located approximately 30 kilobases 5' from the alpha-globin gene cluster.
|
1701260 |
1990 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The coinheritance of a nondeletional form of alpha thalassemia (alpha alpha T) was suspected because of the severity of the proband's phenotype and the presence of normal alpha-globin gene fragments in the father.
|
8193372 |
1994 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The alpha 2-globin gene from a patient with alpha thalassemia contains a pentanucleotide deletion in intron 1 immediately adjacent to exon 1.
|
7151175 |
1982 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
alpha-Thalassemia (alpha-thal) is a widespread genetic disorder throughout the world caused primarily by reduced synthesis of the alpha-globin chains, and it has been found at a high incidence in Turkey.
|
20332613 |
2010 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In alpha-thalassemia-1 and the nondeletion type of hemoglobin-H disease the two alpha-globin genes are at two loci on one chromosome and none reside on the other chromosome.
|
447845 |
1979 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Accurate genotyping of alpha globin determinant is absolutely required as there is a possibility that an interaction of this unusual double mutation with other common alpha0 thalassaemias (--/-alphaT) can give rise to a very severe, probably fatal, alpha thalassaemia.
|
12890155 |
2003 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Despite discoveries concerning the molecular abnormalities that led to the thalassemic syndromes, it still is not known how accumulation of excess unmatched alpha-globin in beta thalassemia and beta-globin in alpha thalassemia leads to red blood cell hemolysis in the peripheral blood, and in the beta thalassemias particularly, premature destruction of erythroid precursors in marrow (ineffective erythropoiesis).
|
11844995 |
2002 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions.
|
10691858 |
2000 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The most common causes of alpha-thalassemia are deletions that remove one or both functional alpha-globin genes, with a small proportion of cases involving nondeletional mutations of the alpha2- or alpha1-globin genes.
|
11960579 |
2001 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Reduced or absent alpha-globin (alpha-thalassaemia) or beta-globin (beta-thalassaemia) leads to anaemia and multifaceted clinical syndromes.
|
16684395 |
2006 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
From the nature of substituted residues in α2-globin, it is widely expected that this mutation leads to unstable and truncated protein and should be detected in couples at risk for α-thalassemia.
|
24979558 |
2014 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
To identify which of these factors may contribute to the modification of childhood homozygous, high-hemoglobin A2 (HbA2) beta-thalassemia in Greece, the interaction of alpha-thalassemia, types of beta-thalassemia mutations, and the presence of a polymorphic site 5' to the G gamma-globin gene, which has been described as associated with increased gamma-globin chain production in some cases, was assessed.
|
7703040 |
1995 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The frequency of deletional alpha-thalassaemia in a Javanese population sample (n = 103) was investigated at three restriction sites of the alpha-globin gene (BamHI, BglII and RsaI).
|
1459573 |
1992 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This genetic study supports the critical role of the LCR in the transcriptional activation of the human alpha-globin gene cluster and substantiates the importance of LCR deletions in the etiology of alpha-thalassemia.
|
1351037 |
1992 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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.
|
16042697 |
2005 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we describe an alpha thalassaemia mutation associated with terminal truncation of the short arm of chromosome 16 (within band 16p13-3) to a site 50 kb distal to the alpha globin genes, and show that (TTAGGG)n has been added directly to the site of the break.
|
1975428 |
1990 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The most frequent molecular lesions causing alpha-thalassemia are deletions of one or more alpha-globin genes.
|
9692395 |
1998 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
In addition to deletional types of alpha-thalassemia Hb, type Constant Spring should also be taken into consideration in alpha-thalassemia population studies, because it causes clinical alpha-thalassemia in the homozygous state or when present with both alpha-globin genes deleted in trans.
|
8707307 |
1996 |
|
alpha-Thalassemia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
In this study we have carried out alpha-globin gene mapping, hemoglobin (Hb) Bart's quantitation serum bilirubin, and red blood cell indices determination in a group of Sardinian appropriate for gestational age premature infants (from 32 to 35 wk gestation) in order to define the incidence in this population of the different alpha-thalassemia syndromes, their expression rate, and the correlation between the alpha-globin genotype and phenotype at this developmental stage.
|
3797101 |
1986 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Study of Asians has previously indicated that deletion of alpha-globin structural genes is the predominant lesion in alpha-thalassemias and that Hb H disease occurs when three of four normal alpha loci per cell are deleted.
|
455460 |
1979 |
|
alpha-Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Expression of (hu)alpha-globin reaches a level of 36% of that of endogenous mouse alpha-globin ((mu)alpha-globin) on a heterozygous mouse alpha-thalassemia background ((mu)alpha-globin knockout, (mu)alpha(+/-)).
|
16284800 |
2005 |
|
alpha-Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A variety of mutated alpha-globin genes was found in the patients with nondeletional type of hemoglobin H disease.
|
10954762 |
2000 |