Hemophilia A
| Disorder | |
|---|---|
| OMIM #: | #306700 (Click to access OMIM database) |
| Disorder: | Hemophilia A |
| Also known as: | COAGULATION FACTOR VIII, INCLUDED F8, INCLUDED, COAGULATION FACTOR VIIIC, PROCOAGULANT COMPONENT, INCLUDED F8C, INCLUDED |
| Clinical | |
| Phenotype: | bleeding tendency, hemarthrosis, factor VII deficiency |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | X-linked recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | F8 |
| Base Change: | |
| Amino Acid Change: | Intron 22-A inversion |
| Last updated: | 2022-11-05 |
| References |
|---|
| Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98. PubMed ID: 18348266 |
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