Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
The deletional HbH disease had higher levels of RBC counts, total Hb, pack cell volume (PCV), mean corpuscular Hb (MCH), mean corpuscular Hb concentration (MCHC), HbA, and HbA2 than did the nondeletional HbH disease.
|
29346671 |
2018 |
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Moreover, specific types of non-deletional HbH disease with production of mutant alpha-globin chains that do not bind to AHSP (Hb Constant Spring and Hb Pakse) showed the highest AHSP expression.
|
28337528 |
2017 |
Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427T > C).
|
26757782 |
2016 |
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Haemoglobin (Hb) Adana (HBA2:c.179>A) interacts with deletional and nondeletional α-thalassaemia mutations to produce HbH disorders with varying clinical manifestations from asymptomatic to severe anaemia with significant hepatosplenomegaly.
|
27271331 |
2016 |
Hemoglobin H Disease
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Hence, more investigation needs to identify factors like other genetic loci linked and/or unlinked to the α-globin genes affecting molecular mechanisms that influence clinical expression of HbH disease.
|
26460264 |
2015 |
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
α-Globin gene deletions corresponding to α-thalassemia trait or silent carrier were observed in all samples with the HbH less than 2% phenotype.
|
23955447 |
2013 |
Hemoglobin H Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
We successfully applied this to characterize the α-globin gene status in 150 Omani cord blood samples with Hb Barts and 32 patients with HbH disease.
|
23668236 |
2013 |
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Of these patients, 60 (70%) had HbH, 23 (27%) had HCS, and 3 (3%) had other, nondeletional forms of hemoglobin H disease.
|
21345100 |
2011 |
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A novel frameshift mutation cd 43/44(-C) at the α2-globin gene was identified in a Chinese boy with hemoglobin H disease by sequencing.
|
20691621 |
2010 |
Hemoglobin H Disease
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
We studied the alpha-globin gene abnormalities, the clinical features, hematologic values, growth assessment, transfusion therapy, and serum ferritin levels of patients with hemoglobin H (HbH) disease in southern Thailand.
|
19390853 |
2009 |
Hemoglobin H Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Alpha-2-globin gene polyadenylation (AATAAA-->AATAAG) mutation in hemoglobin H disease among Kuwaitis.
|
16103716 |
2005 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |