Amish, Mennonite, and Hutterite
Genetic Disorder Database

Hemophilia B

Disorder
OMIM #: #306900  (Click to access OMIM database)
Disorder: Hemophilia B 
Also known as: HemB
Christmas disease
Factor IX deficiency
Plasma thromboplastin component 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: F9
Base Change: C>T, at nucleotide 31008
Amino Acid Change: thr 296 --> met
2   Amish  
Gene: F9
Base Change: C>T, at nucleotide 1025
Amino Acid Change:
Last updated: 2019-07-03 

References
Ketterling RP, Bottema CD, Koeberl DD, Ii S, Sommer SS. (1991) T296---M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection. Human Genet. 87:333-337.
PubMed ID: 1864609 
Personal communication; seen at CSC.  

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