Does anyone else have ferroportin disease, AKA hemochromatosis Type 4?

You're not alone. I know it feels like it at times, but HH, as I have come to find out, isn't common. It's rarely diagnosed, but Mayo is the best place to be.
My issue is that I didn't realize what it does to the body and mind. The brain fog, joint pain, and no one experiences the same symptoms.
Glad you came on here, it's nice to have other people who can relate.

Thanks to everyone who is contributing to this thread. It is helpful, informative and supportive.

@swalex
Hi! Thank you so much for stepping forward and sharing this.

It is incredibly heartening to see more of us with the SLC40A1 mutation connecting here. Finding fellow patients with this exact rare condition feels like discovering a lighthouse in the dark.

Thank you for spending the time to gather all this scientific research and generously sharing your blog link. I am definitely going to dive into your compiled notes, and I am very much looking forward to exchanging experiences and learning from each other as we navigate this journey together.

Welcome to our little corner of support!

@mayo99824
Thank you so much for writing back. Hearing about your situation in Alaska helps me understand your isolation, and it must be incredibly frustrating to deal with doctors who dismiss your condition. Please know that your disease is real, and your struggles are completely valid.

Please don’t be hard on yourself for feeling exhausted. Navigating the unknowns of a rare condition and trying to figure out how to handle it all is incredibly draining, both mentally and emotionally. It makes perfect sense that you feel tired, so please give yourself some grace.

I completely understand your worry for your children. But please remember: knowledge is power, and their future will be different. Because you have found the answer now, your children can be monitored early, and this can be managed before it ever becomes a serious problem. You are already protecting them just by seeking this information.

Please take things one day at a time and be gentle with yourself. I am cheering for you from Taiwan!

@cyj297 Hello, and thank you.
I, too, have Type 4 Hemochromatosis caused by mutations in the SLC40A1 gene.

Over time, I have gathered a considerable amount of scientific research and information about this rare condition.
If anyone is interested, I would be happy to share what I've found and exchange experiences.
https://swaresearch.blogspot.com/2025/11/hemochromatosis-understanding-iron.html

I have hereditary hemochromatosis as well as ET Jak2. The type of hemochromatosis was never mentioned. I get a monthly phlebotomy to reduce iron with the goal of keeping it under 100. I try to eat low iron diet. I’m also on Hydrea for the ET. So balancing blood counts and HGB with iron levels is closely monitored. I tend to bruise and bleed more and am always tired. I will check on hemochromatosis types. Thanks for the info and all the best.

@cyj297
What a lovely response. I live in a relatively small community in Alaska so specialists are not available on a regular basis. From time to time we have visiting specialists but so far not one who even believes ferroportin disease is really a thing. I appreciate your reminder to look for a specialist. Most times I am just tired and forget to look after myself. I worry more about my children and whether they may have problems. Thanks for your support.

Hi there,

I read your post and immediately wanted to reach out to let you know that you are definitely not alone. I know exactly how isolating it feels when even doctors seem puzzled by what you’re going through.

I am writing to you from Taiwan. I recently underwent genetic testing after struggling with elevated liver enzymes, high ferritin, and very high serum iron and transferrin saturation levels. Just recently, my results came back confirming a mutation in the SLC40A1 gene (Ferroportin Disease / Hemochromatosis Type 4).

I noticed you mentioned your doctor wasn't sure how to proceed. I am currently in the process of setting up a treatment plan with a hematologist here in Taiwan. According to my genetic report and the clinical guidelines my doctors are looking at, therapeutic phlebotomy (blood removal) is indicated as an effective treatment option for managing the iron overload in this specific type. Perhaps you could bring up "therapeutic phlebotomy" to your physician or seek a second opinion from a hematologist who specializes in iron overload disorders.

Also, I wanted to gently share something that might bring you some peace of mind. I know you mentioned a heartbreaking history in your family with members not making it past 55. However, in my family, we have the exact same genetic background, but my elders have lived long, healthy lives well past that age without these severe complications. This disease can manifest very differently from one person to another based on the exact mutation site and genetic background.

Your family's history is incredibly heavy to carry, but your story doesn't have to be the exact same. Now that you are searching for answers and raising awareness, you are already changing your path.

We are in this together, even from across the world. Please hang in there!

Emails just say Nebula Genomics. It was a few years ago. My son ordered it for me as a Christmas gift.

Hi - I have hemochromatosis symptoms as well and have already been tested for the common genes associated with it which I don't have. I had not heard of type 4 before today and have been looking at various genetic testing sites to find one to test for the SLC40A1. May I ask which version of the Nebula test you had done that provided you with those results? Thank you