Rare H63d Gene Phlebotomy and links

Rare H63d Gene with phlebotomy

I am on Phlebotomy number 13, done weekly.  The computer age allows me to see the doctors labs, which are done before each phlebotomy a few days later. Some numbers have dropped, while others increased.  Hematocrit levels watched closely, as ferritin is not a good indicator.


I was interested it HFE is a blood disorder, a blood cancer, or how it is defined, as it will last the rest of my life, like Multiple Sclerosis does. I have not read a clear answer. My Neurologist told me to ask my blood Dr at Cancer center.

Google answers asking of HFE gene,  provides a UK spelling.
"haemochromatosis an autoimmune disease?
In this severe disorder, iron builds up rapidly in the liver of the developing fetus. It is thought to be an autoimmune disease, in which the body attacks itself.

HFE link to protein government site
The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells.

The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body. The HFE protein regulates the production of another protein called hepcidin, which is considered the "master" iron regulatory hormone. Hepcidin is produced by the liver, and it determines how much iron is absorbed from the diet and released from storage sites in the body. When the proteins involved in iron sensing and absorption are functioning properly, iron absorption is tightly regulated. On average, the body absorbs about 10 percent of the iron obtained from the diet.

The HFE protein also interacts with two proteins called transferrin receptors; however, the role of these interactions in iron regulation is unclear.

I found a interesting video on Facebook, or youtube. This guy uses strong magnets to show a unexplainable answer, as Iron should be pulled towards the magnet, but not in HFE.   Facebook site to iron and magnets
 His full video with explaining is On YouTube
YouTube site to full explanation

MEDLINEPLUS SHOWS HFE is
Autosomal recessive

Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families.

An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.

Information

I found a layman's term of this gene Hereditary hechromatosis

Inheriting a specific disease, condition, or trait depends on the type of chromosome that is affected. The two types are autosomal chromosomes and sex chromosomes. It also depends on whether the trait is dominant or recessive.

A mutation in a gene on one of the first 22 nonsex chromosomes can lead to an autosomal disorder.

Genes come in pairs. One gene in each pair comes from the mother, and the other gene comes from the father. Recessive inheritance means both genes in a pair must be abnormal to cause disease. People with only one defective gene in the pair are called carriers. These people are most often not affected with the condition. However, they can pass the abnormal gene to their children.

CHANCES OF INHERITING A TRAIT

If you are born to parents who carry the same autosomal recessive change (mutation), you have a 1 in 4 chance of inheriting the abnormal gene from both parents and developing the disease. You have a 50% (1 in 2) chance of inheriting one abnormal gene. This would make you a carrier.

In other words, for a child born to a couple who both carry the gene (but do not have signs of disease), the expected outcome for each pregnancy is:

A 25% chance that the child is born with two normal genes (normal)A 50% chance that the child is born with one normal and one abnormal gene (carrier, without disease)A 25% chance that the child is born with two abnormal genes (at risk for the disease)

Note: These outcomes do not mean that the children will definitely be carriers or be severely affected.

And another government page shows:

Although a direct association has not been established between HFE mutations and MS susceptibility or clinical outcome 109, a recent retrospective study on patients who were homozygous for HFEC282Y concluded that autoimmune conditions were common among individuals with hemochromatosis

 For technical readers,
Autoimmunity with Multiple sclerosis see page 18
Shows
Autoimmunity with Multiple Sclerosis:

From a different perspective, enhanced immune responses by mutated HFEC282Y may favor the appearance of autoimmunity. Various reports have described autoimmune conditions in association with hemochromatosis. In particular a higher prevalence of the HFEC282Y mutation was observed among cases of multiple sclerosis (MS) and was present among MS patients that had an accelerated onset of the disease and more severe MS symptoms 109, 110, 111. Although a direct association has not been established between HFE mutations and MS susceptibility or clinical outcome 109, a recent retrospective study on patients who were homozygous for HFEC282Y concluded that autoimmune conditions were common among individuals with hemochromatosis 15. Expression of the HFEC282Y mutation could increase the self‐reactivity of CD8+ T cells that cross the blood‐brain barrier, via increased MHC I antigenic presentation. The HFEC282Y mutation may result in an increased presentation of auto‐antigens related to MS beyond a recognition threshold causing the onset and progression of the disease, unlike HFEWT which could inhibit presentation and maintain immunosuppression 109, 111.

The Article goes on to talk about cancers also.

Iron overload is rare in patients homozygous for the H63D mutation
iron overload is Rare with H63d Gene

Excess Iron and Brain Degeneration: The Little-Known Link
Iron in the brain

 Further restart led me to Suppression of Iron-Regulatory Hepcidin by Vitamin D. Hepcidin is a hormone, so I sent the article to my Endocrinologist, and my blood doctor.







From the blood journal, Hepcidin and vitamin D

http://www.bloodjournal.org

Blood journalI. 

Treating iron overload with hepcidin. 

Liver not making hepcidin? Hemochromatosis 

the blood journal

Suppression of Iron-Regulatory Hepcidin by Vitamin D
https://jasn.asnjournals.org/content/25/3/564.full




But mine is just opposite of what article talks about, as I have High Iron. Was on 150,000 iu Vitamin D, to keep my levels up, followed by endocrinologist.  I was found initially with vitamin D in Ricketts stage. They phlebotomy has made some drastic changes to my #s increasing, along with Testosterone. Adjustments were made, to my daily regime of meds, and to retest in a month, and again two months later. Such a rare H63d gene, then doctors monitoring, I am keeping notes. Perhaps a movie or book in their making? I lowered vitamin D to 70,000 iu/week, after being off it for a month, due to overly high levels.


I belong to All of Us research program. They sent me a email back when asking about the rare H63d Mutation I have

"Indeed, the mutation you have is quite rare so thank you for bringing this to our attention.  I am happy to report that one of the very first actions to be taken by the NIH All of Us Research Program will be to sequence the DNA samples you kindly provided when you allowed us to collect a sample of your blood. This, and any other notable mutations, will be detected by the NIH team and investigators studying this mutation or condition will be notified."

 Those interested can contact

Samrrah A. Raouf
Clinical Research Coordinator
All of Us Research Program
UC Davis Health
Office: (916) 734 5772
Mobile (call/text): (916) 502-5605
Allofus@ucdavis.edu
www.joinallofus.org
www.joinallofus.org

The next question is the HFE is classified as a blood cancer?

A video from YouTube
https://m.facebook.com/story.php?story_fbid=2224175634267849&id=479163965435700&anchor_composer=false
Facebook

 YouTube iron
Shows iron in the blood does opposite.
A complete explanation is On his YouTube channel. Something scientist should look into.
YouTube explanation of iron and magnets with bloo d

Also
/UK hematochromotis
 Is another link to check out.  Haemochromatosis

Any comments or articles of research?
Thank you for reading
JoeY

Hormone hepcidin