Phlebotomy Or Venipuncture number nine

Phlebotomy  venipuncture number nine, with Wil in the background.

For my UK audiences,

Phlebotomy is the collection of blood by one of several methods. These methods include: 1) performing a finger puncture with a small lancet to let blood drain from capillaries, which is then collected into a very fine glass tube (capillary tube), a pediatric (microtainer) collection tube, or onto blotter paper; 2) a heel puncture, in lieu of a finger puncture, for neonates and infants; 3) venipuncture; and 4) arteriopuncture or arterial puncture.

Venipuncture, as it relates to phlebotomy, is using a needle to puncture a vein from which to collect blood into a syringe or evacuated tube. (Venipuncture can also be used to introduce into a vein a fluid, such as a medication or a contrast for radiology, but that falls outside the scope of phlebotomy.)

I've decided to get more technical. Found this video on Facebook, but the actual explanation is done on Brainiac75 YouTube channel

Monster Magnet meets blood
https://m.youtube.com/watch?v=IVsWTkD2M6Qblood

So what can be learned by scientists with this tidbit of information? I'f you are high or low in iron?  Would love comments.


I was interested it HFE is a blood disorder,
 a blood cancer,
or how it is defined, as it will last they test of my life, like Multiple Sclerosis does.

Google answers asking of HFE gene,  provides a 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. "


A government site shows this
https://ghr.nlm.nih.gov/gene/HFE
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.



MEDLINEPLUS SHOWS

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

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.

Yet, 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,
Page 18 of https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569368/  click This link.  This government page
Shows
Autoimmunity

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
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071918
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071918/

Excess Iron and Brain Degeneration: The Little-Known Link
Life extension has interesting info
https://www.lifeextension.com/Magazine/2012/3/Excess-Iron-Brain-Degeneration/Page-01

Suppression of Iron-Regulatory Hepcidin by Vitamin D
Vitamin D and Iron
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 every three months. I was found initially with vitamin D in Ricketts stage. They phlebotomy has made some drastic changes to my #s increasing, along with my testosterone numbers. 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 scientists will look at, as I am quite rare.

Wikipedia defined Hepcidin

Hepcidin synthesis and secretion by the liver is controlled by iron stores within macrophages, inflammation, hypoxia, and erythropoiesis. Macrophages communicate with the hepatocyte to regulate hepcidin release into the circulation via eight different proteins: hemojuvelin, heriditrary hemochromatosis protein, transferrin receptor 2, bone morphogenic protein 6 (BMP6), matriptase-2, neogenin, BMP receptors, and transferrin.^[14]

Erythroferrone, produced in erythroblasts, has been identified as inhibiting hepcidin and so providing more iron for hemoglobin synthesis in situations such as stress erythropoiesis.^[15][16]

Vitamin D has been shown to decrease hepcidin, in cell models looking at transcription and when given in big doses to human volunteers. Optimal function of hepcidin may be predicated upon the adequate presence of vitamin D in the blood.^[17]

I belong to All of Us research program. They sent me a email back questioning 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.

In the meantime, I looked at the list of national clinical trials atClinicalTrials.gov that were studying hemochromatosis. There were about 46 studies listed and a handful currently recruiting in the USA. I am not advocating that you enroll in any, but thought you might like to see what kinds of alternative treatments are being studied for this condition."

 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

A update is I have became anemic first of the year 2019, from phlebotomy's. My numbers are still dropping eight weeks later. So no phlebotomy for now, but watching me close, so I do not get to low, as being anemic has its own items, I will talk about in another blog




Thanks for reading
Joey