|
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 |
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 |
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 |
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 |
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 |
We found deletions of three of the four normal alpha-globin genes in individuals with HbH disease.
|
508947 |
1979 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |