Hemachromatosis...

Hi @dazlin, I would like to invite back @joejan to Connect and this discussion as they also posted about their husband being diagnosed with hemachromatosis.

@dazlin, what information has been shared with you from your provider in regards to this potential diagnosis?

My hubby was told like 20 years ago by his former PCP that his blood was "thick" and that he needed to donate blood as often as possible. He's been doing that all these years, about every 3 months I think, at Stanford because it is convenient to his work. About a year ago, Stanford would not take his blood because his hemoglobin was like 19. He was referred to an oncologist/hematologist in our town who suspected polycythemia vera and did a bone marrow biopsy which was sent out to confirm but came back negative. Doc said that the test was not 100% accurate but that they would treat him to reduce his hemoglobin by blood-letting every 2 months in their office. This did in fact bring down the hemoglobin and consequently, the iron to acceptable levels but raised the hematocrit to 53 and now he's blood-letting every 2 weeks and the 53 is stubbornly staying put! We're hoping he doesn't have to start blood-letting every week. In the meantime, my husband is 65 years old, otherwise healthy and this condition puts him at very high risk for stroke and heart attack so...I hope your doctors are able to regulate your blood.

I’ve had multiple blood testing done. It shows I have hemochromatosis and I do phlebotomy every 56 days. I recently had additional blood work done and the results says,
Elect Interp
Your Value
Indication: Monoclonal protein
Altered migration and/or decreased level of
alpha-1 antitrypsin (AAT):
The AT band exhibits altered migration
and/or quantitative AAT levels are
decreased. This is suggestive of a variant
form of AAT. AT variants are genetically
determined and can be associated with lung
and liver injury. In view of the possible
clinical consequences and the implications
for family members, AAT phenotype analysis
is suggested.
Can anyone elaborate on what this means for me or family members. I’m unsure if this is the correct place to ask this question.

I would definitely ask your hematologist that question. When we learned that my husband's condition came specifically from the rare genes of his mother and the same rare genes of his father, we asked if our kids would be affected. They explained that since I did not have the gene, our kids were safe. Both parents have to have it for it to be passed on. Looks like this caution is about something like that since it refers to consequences and implications for family members. Blessings,