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GenomicsA CpG mutational hotspot in a ONECUT (HNF6) binding site accounts for the prevalent variant of Hemophilia B Leyden
Hemophilia B, or the 'Royal Disease', arises from mutations in the Coagulation Factor IX (F9) gene. Mutations within the F9 promoter are associated with a remarkable form of the disease, termed Hemophilia B Leyden, in which symptoms ameliorate after puberty. Mutations at the -5/-6 site account for t...
ORGANISM(S): Mus musculus 
2013-03-06 | E-MTAB-890 | biostudies-arrayexpress
ProteomicsExploring red blood cells as an antigen delivery system to modulate the immune response towards FVIII in hemophilia A
Background: The main complication in hemophilia A treatment is the development of inhibitory antibodies against factor (F)VIII. Immune tolerance induction, the gold standard for eradicating anti-FVIII antibodies, is efficient in only 60% to 80% of cases. This underscores the need for more efficient in...
ORGANISM(S): Homo sapiens (Human) 
2025-10-02 | PXD069058 | Pride
Hemophilia a Erythrocytes Inhibitors Immunity Factor viii 
TranscriptomicsRecombinant and plasma-derived Factor VIII products induce distinct splenic cytokine microenvironments in hemophilia A
To investigate the gene expression in dendritic cells after treating hemiphilic mice with HBSS, plasma derived or recombinant factor VIII Gene expression in dendritic cells were measured 24 hours post treatment Hemophilic mice with treated with either (HBSS, rFVIII or pdFVIII) 24 hours post treatmen...
ORGANISM(S): Mus musculus 
2010-05-19 | E-GEOD-15809 | biostudies-arrayexpress
TranscriptomicsSmall ncRNA expression-profiling of blood from Hemophilia A patients identifies miR-1246 as a potential regulator of Factor 8 gene
Hemophilia A (HA) is a bleeding disorder caused by deficiency of functional plasma clotting factor VIII (FVIII). In addition to genetic mutations in the gene encoding FVIII (F8), there is evidence that other molecular mechanisms may be involved in the pathobiology of HA. In this study, global small ...
ORGANISM(S): Homo sapiens 
2015-02-04 | E-GEOD-65581 | biostudies-arrayexpress
UnknownPrimary postpartum hemorrhage in women with von Willebrand disease and carriers of hemophilia: a retrospective analysis.
Not available
S-EPMC11334897 | biostudies-literature
GenomicHIV-Resistant People with Hemophilia

Rare individuals are highly resistant to infection with human immunodeficiency virus (HIV). Studies of candidate genes resulted in the discovery of a 32bp deletion in the CC-chemokine receptor 5 gene (CCR5Δ32), which rendered this critical co-receptor for primary HIV infection to be non-func...

phs000445 | dbGaP
UnknownDelays in maturation among adolescents with hemophilia and a history of inhibitors.
Not available
S-EPMC2077314 | biostudies-literature
GenomicsMulticenter Hemophilia Cohort Studies (MHCS-BioLINCC)
Multicenter Hemophilia Cohort Studies (MHCS-BioLINCC)
PRJNA1406793 | ENA
GenomicsMulticenter Hemophilia Cohort Studies (MHCS-BioLINCC)
Multicenter Hemophilia Cohort Studies (MHCS-BioLINCC)
PRJNA1406792 | ENA
UnknownGlobal patterns of hemophilia drug trials, hemophilia care, and health care measures.
Not available
S-EPMC11992419 | biostudies-literature
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