|
Hemoglobin H Disease
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
These results suggest that the milder clinical course of HbH disease in Blacks is not a result of greater alpha globin production in that population of thalassaemics.
|
427029 |
1979 |
|
Hemoglobin H Disease
|
0.600 |
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 |
|
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The liquid hybridization analysis showed that in HbQ-alpha 2 74 Asp replaced by His beta 2-alpha-thalassemia, as in HbH disease, only one-fourth of the usual number of alpha-globin genes is present.
|
508945 |
1979 |
|
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We found deletions of three of the four normal alpha-globin genes in individuals with HbH disease.
|
508947 |
1979 |
|
Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
This heterogeneity depends on the fact that the alpha 2-globin gene produces 2-3 times alpha-globin chains than the alpha 1-gene and the single remaining alpha 1-like globin gene in the -alpha 3.7 chromosome has a compensatory increase in the alpha-globin chain output. alpha-Globin gene mapping of HbH disease patients may be useful for predicting the clinical outcome and to improve genetic counseling.
|
1414154 |
1992 |
|
Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Separation and study of corrinoid cobalt-ligand isomers by high-performance liquid chromatography.
|
2050764 |
1991 |
|
Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces a frameshift and a termination codon.
|
2831226 |
1988 |
|
Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
DNA samples from 60 Chinese patients with haemoglobin H disease were analysed by restricted endonuclease mapping to determine the patterns of alpha-globin gene organisation and the distribution of these patterns in China.
|
2857363 |
1985 |
|
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The results establish that in these black subjects HbH disease is associated with dysfunctional alpha-globin genes (genotype: -alpha/-alpha T).
|
2891296 |
1987 |
|
Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
These data showed that factor(s) in the mouse erythroleukemia cell can genetically complement the alpha-globin gene defect in these preleukemia patients with acquired hemoglobin H disease and suggest that altered expression of a gene in trans to the alpha-globin gene may be responsible for the acquisition of hemoglobin H disease in these patients.
|
3031681 |
1987 |
|
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
An alpha-globin gene initiation codon mutation in a black family with HbH disease.
|
3620699 |
1987 |
|
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Combination of three alpha-globin gene loci deletions and hemoglobin New York results in a severe hemoglobin H syndrome.
|
3826056 |
1987 |
|
Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Unequal crossing-over: a common basis of single alpha-globin genes in Asians and American blacks with hemoglobin-H disease.
|
6246995 |
1980 |
|
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Cloning and sequence analysis of the alpha-globin genes from a Sardinian patient with the nondeletion type of hemoglobin-H disease revealed a new type of thalassemia lesion.
|
6490612 |
1984 |
|
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Restriction enzyme analysis indicates that the child's HbH disease results from the inheritance of an alpha-thalassaemia 2 chromosome (-alpha/) from his mother and, from his father, a chromosome which has undergone a deletion including the zeta- and alpha-globin genes as well as an undefined length of DNA.
|
6704328 |
1984 |
|
Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
The presence of hemoglobin H (beta 4), resulting from a deficiency of alpha-globin chain synthesis, was observed as an acquired characteristic in the red cells of five elderly patients with myeloproliferative disorders or preleukemia.
|
6881169 |
1983 |
|
Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
In a Chinese patient with nondeletion hemoglobin-H disease (- -/alpha alpha T) (both alpha-globin genes are present but not fully functional) a normal ratio was maintained between the levels of alpha 1- and alpha 2-globin mRNA, implying that mRNA production from both alpha-globin genes is suppressed in a balanced manner.
|
6894931 |
1981 |
|
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These studies show that there are two different types of human chromosome 16 in this patient and that the nondeletion mutation of human alpha-globin genes leading to hemoglobin H diseases in this patient acts in cis to the two alpha-globin genes remaining in his cells.
|
6929717 |
1980 |
|
Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mice with three dysfunctional alpha-globin genes generated by breeding the 5' alpha-globin knockouts (.alpha/alpha alpha) and the deletion type alpha-thalassemia mice (../alpha alpha) produce severe hemoglobin H disease and they die in utero.
|
8781443 |
1996 |
|
Hemoglobin H Disease
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
To determine serum immunoreactive erythropoietin (Epo) and soluble transferrin receptors (sTfR) levels in patients with hemoglobin H (HbH) disease and the correlation with HbH levels and alpha-globin genotype.
|
9856674 |
1998 |
|
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A variety of mutated alpha-globin genes was found in the patients with nondeletional type of hemoglobin H disease.
|
10954762 |
2000 |
|
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The analysis of the alpha-globin gene organization in 111 HbH patients showed 76 cases (68.5%) were of the deletion type, 8 had Hb Constant Spring and the other cases were of non-deletion type.
|
11694246 |
2001 |
|
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This alpha+-thalassaemia deletion was found to give rise to an atypical haemoglobin H (HbH) disease characterized by a non-transfusion-dependent moderate microcytic hypochromic anaemia in combination with a poly adenylation signal mutation of the alpha-globin gene (alpha2 AATAAA --> AATA-- --).
|
12542500 |
2003 |
|
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Alpha-2-globin gene polyadenylation (AATAAA-->AATAAG) mutation in hemoglobin H disease among Kuwaitis.
|
16103716 |
2005 |