Amish, Mennonite, and Hutterite
Genetic Disorder Database

Hereditary hemochromatosis

Disorder
OMIM #: #235200  (Click to access OMIM database)
Disorder: Hereditary hemochromatosis 
Also known as:  
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: HFE
Base Change: C>G, at nucleotide 187
Amino Acid Change:
2   Unknown / Other Mennonite  
Gene: HFE
Base Change: G>A, at nucleotide 845
Amino Acid Change: cys 282 --> tyr
Last updated: 2019-07-03 

References
Hinckley JD, Abbott DM, Burns TL, Heiman M, Shapiro AD, Wang K, Di Paola J. (2013) Quantitative trait locus linkage analysis in a large Amish pedigree identifies novel candidate loci for erythrocyte traits . Mol Genet Genomic Med 1(3): 131-141.
PubMed ID: 24058921 
Personal communication; seen at CSC.  

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