Hemochromatosis Support Group
Hemochromatosis is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. It is the main iron overload disorder. Hemochromatosis is notorious for having symptoms that are often initially misattributed to other diseases.
My 3 kids have all tested positive for the C282Y/C282Y mutation recently. My 20 year old son has his results since March 2016, and is being treat for Hemochromatosis. My 8 & 13 year old daughter were just diagnosed with the gene mutation today. With all three of my kids testing positive for the mutation, what are the odds of both my husband and I for having the same thing?
An MRI of my spine this month indicated 'profoundly abnormal bone marrow, possibly from anemia'. I found out about this yesterday. If I knew of my daughters mutation diagnosis yesterday, I could have asked my doctor if this abnormality could be related to undiagnosed hemochromatosis in me and requested a genetic test for myself along with the other blood work. Do we as parents of C282Y/C282Y have this same problem?
By the way, I'm a new poster here, hello everyone!
An MRI of my spine this month indicated 'profoundly abnormal bone marrow, possibly from anemia'. I found out about this yesterday. If I knew of my daughters mutation diagnosis yesterday, I could have asked my doctor if this abnormality could be related to undiagnosed hemochromatosis in me and requested a genetic test for myself along with the other blood work. Do we as parents of C282Y/C282Y have this same problem?
By the way, I'm a new poster here, hello everyone!
HH is far more common than people have realised in the past.
I have full blown HH C282Y and my wife is a carrier, so my daughter is a full blown HH and my son is a carrier who looks as if he will also suffer HH issues although only a carrier.
HH is the most common, but most undiagnosed genetic disease around,
If your children are all full blown HH then the reality is that both you and your husband are at the very least carriers of faulty HH genes if not full HH positive.
However if caught early it can be controlled but not cured, regular monitoring of blood levels is required and phlebotomies when required are a must if you want to minimise the related organ damage.
Please share your experiences and ask any questions on this forum as we are all here to help each other with this condition.
take care
Steve
I forgot to add that if you have it diagnosed in your family you should advise family members to be tested as it is likely that they are also suffering from the genetic disease and should seek treatment.
Untreated it can cause cancer, liver disease, heart disease, dementia and other not too pleasant issues like joint pains, cramps, mobility issues.
regards
Steve
I agree with Steve. If the biological children of two parents have one or more copies of the genetic mutation from HH this would have to have come from one or both parents .
If a biological child has two copies of the HH gene that means each parent will carry one or two copies of the HH mutation.
There is a simple explanation of the genetic pathways on http://patient.info/health/haemochromatosis-leaflet.
So each parent will either be a carrier of one copy of the gene or two copies of it. The genes don't always switch on so neither parent may have symptoms of HH.
There are instances where a person with one copy of the mutated gene develops HH (see https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis#inheritance for information on Type 4 hemochromatosis (which is distinguished by its autosomal dominant inheritance pattern) as opposed to Types 1, 2, and 3 hemochromatosis which are inherited in an autosomal recessive pattern.)
Christine