Amish, Mennonite, and Hutterite
Genetic Disorder Database

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: other bleeding tendency, hemarthrosis 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: F8
Base Change:
Amino Acid Change: Intron 22-A inversion
Last updated: 2010-07-22 

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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