Severe hemophilia A
Synonyms: Severe congenital F8 deficiency · Severe congenital factor VIII deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe hemophilia A | Severe congenital F8 deficiency · Severe congenital factor VIII deficiency |
| fr | Hémophilie A sévère | Déficit congénital sévère en F8 · Déficit congénital sévère en facteur VIII |
| de | Hämophilie A, schwere | Faktor-VIII-Mangel, kongenitaler, schwerer · Schwerer angeborener F8-Mangel |
| es | Hemofilia A grave | Deficiencia grave congénita de F8 · Deficiencia grave congénita de factor VIII |
| it | Emofilia A grave | Deficit congenito grave del fattore VIII · Deficit congenito grave di F8 |
| nl | Ernstige hemofilie A | Ernstige congenitale F8-deficiëntie · Ernstige congenitale deficiëntie van factor VIII |
| pt | Hemofilia A grave | Deficiência congénita grave de F8 · Deficiência congénita grave de factor VIII |
| pl | Ciężka hemofilia A | Ciężki Niedobór czynnika VIII |
| cs | Těžká hemofilie A | Těžký deficit faktoru VIII |
| uk | Важка форма гемофілії А | Тяжка вроджена недостатність F8 · Тяжкий вроджений дефіцит фактора VIII |
| zh | 重度血友病A型 | 重度因子VIII缺乏 |
| tr | Ağır hemofili A | Ağır faktör VIII eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 306700 | NTBT | validated | |
| ICD-10 | D66 | NTBT | attributed | validated |
| ICD-11 | 3B10.0 | NTBT | attributed | validated |
| MONDO | 0015719 | E | validated | |
| UMLS | C0272322 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98878Hemophilia A
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| F8 | Disease-causing germline mutation(s) in | Assessed | HGNC:3546 | ENSG00000185010 | 300841 | Xq28 | coagulation factor VIII | 20301578[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.8 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
27 annotations · validated 2019-12-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0003125 | Reduced factor VIII activity | |
| Frequent (79-30%) | ||
| HP:0000978 | Bruising susceptibility | |
| HP:0000421 | Epistaxis | |
| HP:0005261 | Joint hemorrhage | |
| HP:0001386 | Joint swelling | |
| HP:0030140 | Oral cavity bleeding | |
| HP:0001934 | Persistent bleeding after trauma | |
| HP:0001058 | Poor wound healing | |
| HP:0004846 | Prolonged bleeding after surgery | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0002829 | Arthralgia | |
| HP:0012541 | Cephalohematoma | |
| HP:0100310 | Epidural hemorrhage | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002315 | Headache | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0012233 | Intramuscular hematoma | |
| HP:0003121 | Limb joint contracture | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0012587 | Macroscopic hematuria | |
| HP:0000132 | Menorrhagia | |
| HP:0005187 | Progressive joint destruction | |
| HP:0030137 | Prolonged bleeding following circumcision | |
| HP:0008330 | Reduced von Willebrand factor activity | |
| HP:0100309 | Subdural hemorrhage | |
| HP:0100769 | Synovitis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 23815950[PMID]_12648975[PMID]_20301578[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169802
- This record as JSON: /data/d/169802.json