|
Hb H disease
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427T > C).
|
26757782 |
2016 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The result showed 97% sensitivity in α-thalassemia carriers with 2 α-globin genes deletion and Hb H disease.
|
25450870 |
2015 |
|
Hb H disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here, we studied α-globin gene abnormalities and clinical features in Taiwanese patients with Hb H disease.
|
25309906 |
2014 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Coinheritance of two defective α-globin genes usually gives rise to a symptomatic condition, hemoglobin (Hb) H disease.
|
24081251 |
2014 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our study showed that in most of the alpha thalassemia carriers just one copy of alpha globin gene was absent and they are not at risk of having children with Hb H disease or hydrops fetalis; however, up to 2.2% of neonates were carriers for ααα(anti3.7) triplication and they will be at risk for having a child with thalassemia intermediate if they marry a person which is a carrier of beta thalassemia.
|
24074530 |
2014 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Nondeletional hemoglobin (Hb) H disease is caused by a deletion of both alpha-globin genes on one chromosome 16 and of an alpha(+)-thalassemia point mutation on the other chromosome 16.
|
20516677 |
2010 |
|
Hb H disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The absence of HS-40 in homozygosity, found in a patient with Hb H disease, strongly downregulates the expression of alpha-globin genes but it is not associated with a complete absence of alpha-globin chain production.
|
20580289 |
2010 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The alpha-globin genotypes of 100 Chinese patients in Hong Kong with haemoglobin H (Hb H) disease were characterised.
|
17018682 |
2007 |
|
Hb H disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Subsequent confirmation of Hb H disease was done by DNA-based diagnostics for alpha-globin genotyping.
|
11551109 |
2001 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Seven unrelated patients with hemoglobin (Hb) H disease and 27 individuals with alpha-chain structural alterations were studied to identify the alpha-globin gene mutations present in the population of Southeast Brazil.
|
10973135 |
2000 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Haemoglobin H (Hb H) disease is the severest form of alpha-thalassaemia compatible with post-natal life and occurs when alpha-thalassaemia mutations interact to reduce alpha-globin synthesis to levels approximately equivalent to the output of a single alpha-globin gene.
|
11122156 |
2000 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The results confirm the importance of the alpha 2 alpha 1-mRNA for the synthesis of alpha chains in alpha-thalassemia-2 homozygotes (-alpha/-alpha) and in patients with Hb H disease due to the deletion of three alpha-globin genes (-alpha/--).
|
8611658 |
1996 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The study depended on (a) most of the Hb H disease in Taiwan having an alpha-thalassemia-1 of the Southeast Asia type (--SEA) in one allele and (b) the differences of X box of alpha-globin gene cluster in the other allele.
|
8110877 |
1994 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We utilized the PCR method to amplify the alpha-thalassemia-1 breakpoint area of the Southeast Asia type and several regions of the alpha-globin gene cluster to diagnose rightward deletion (-alpha 3.7), leftward deletion (-alpha 4.2) or nondeletion forms of the Hb H disease.
|
8140856 |
1993 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this population sample we did not find either heterozygous carriers of alpha 0 thalassemia (deletion of both alpha genes in "cis") or individuals showing hemolytic anemia due to inactivation of three alpha-globin genes (Hb H disease).
|
3169739 |
1988 |
|
Hb H disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Analysis of DNA from members of a Melanesian family from Papua New Guinea with haemoglobin (Hb) H disease revealed that all four alpha globin genes are intact in affected subjects.
|
2892939 |
1987 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The only infant with the deletion of 3 alpha-globin structural genes had 25% Hb Bart's associated with a moderate microcytic anemia at birth and developed the clinical picture of Hb H disease.
|
3797101 |
1986 |
|
Hb H disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
The chromosomes showing loss of one alpha-globin gene in alpha-thalassemia-2 and Hb H disease were characterized by the so-called rightward deletion form exhibiting loss of a 3.7 kb DNA fragment in the alpha-gene cluster.
|
6094337 |
1984 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that in those Hb H disease patients with the non-deletion [(alpha alpha)th] determinant, two alpha globin genes produce fewer alpha globin chains than a single alpha globin locus.
|
6317863 |
1983 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In a previous study, molecular cloning of the alpha-globin genes from a patient with nondeletion Hb-H disease (genotype--/alpha alpha) showed that a single nucleotide mutation (CTG to CCG) in one of the genes resulted in a leucine to proline substitution.
|
6826718 |
1983 |
|
Hb H disease
|
0.400 |
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 |
|
Hb H disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The patient had only one alpha-globin structural gene, located in a DNA fragment shorter than that found in normal or alpha-thalassemia trait individuals, but similar to that present in other patients with Hb H disease.
|
479366 |
1979 |