Thread by @oceana1009

I stayed up most of the night reading about beta thalassemia, a supposed rare blood disorder that could be the basis of most autoimmune illnesses and I'm still shrieking, on the inside

This could be the key to cure EDS, chronic fatigue syndrome, MCAS, ADHD, dementia, like so many illnesses I can't handle this knowledge, I don't know what to do about it except like wordlessly scream for a hundred years

I can't figure out what to do because if this is right everyone who is sick right now can be cured, like not right away, but very soon. I thought about trying to email some scientists and tell them where their research is wrong but who would listen to me?

there's a series of biological mechanisms starting in the blood that can interact with a central collagen forming process to create EDS, there's a lack of response to fighting viruses that can cause CFS, there's a handful of key metabolic processes creating autoimmunity

Doctors wrongly assumed that people who are heterozygous for beta thalassemia do not express any symptoms and are silent carriers of this blood disorder, but the illness can be activated by time, heavy metal exposure, falling down, heat, cold, emotional trauma, pressure, etc

It falsely looks like iron deficiency anemia on blood testing, either silent, mild or extreme, but if a doctor did further blood testing through hemoglobin electrophoresis they would find abnormal hemoglobin structures

It's very common among Asians and African descended people, and generally in hot regions with malaria, because beta thalessemia creates sickle cell anemia in a homozygous recessive form

It is also common in areas near the Mediterranean Sea, England, and Scotland, for unknown reasons

Iron poisoning from inability to remove iron buildup in tissues, kills mitochondrial function wherever it is, also messing up immune function. It causes heart arrhythmia in heart, diabetes in the pancreas, respiratory disease in the lungs, dementia in the brain, and etc

Iron chelation medications can reverse the slow, long term iron damage of thalessemia, and low dose naltrexone can counteract the autoimmune part of iron poisoning

Thalessemia can alter the immune systems response to properly creating fat cells, creating both metabolic syndrome, and type 2 diabetes

side effect of thalessemia in some people is hemolytic anemia, both a metabolic kind plus autoimmunity. Hemolytic anemia causes mitral valve prolapse. Hemolysis can be triggered in some people spontaneously, causing blood cells to get shredded and die, sometimes in large amounts

This can set off very dramatic blueish pallor and fainting spells. Some people get hemolytic anemia symptoms from loud sounds, or getting stressed, even minor injury, and possibly is the basis of factitious disorder/Munchausen

Thalessemia has been connected to many mental illnesses, including schizophrenia, bipolar and many others. The blood disorder when activated changes both the structure of the brain during childhood, and also the function of the brain

Thalessemia has both a variable expression over time and also can be very different from person to person, because it involves 2 key genetic changes inherited as one pair from each parent, the sum of the pair of genes determines the course of the illness

The fundamental mechanism of it is actually the changing of mast cell functions, and other immune system functions, when it's active or set off, it turns off key immune functions and alters others. It also turns off one of the key anti inflammatory functions of the immune system

Thalessemia can be treated by regular blood infusions and iron chelation, but it can also be completely cured by a bone marrow transplant from a matched donor who produces regular hemoglobin

People with severe forms of thalassemia are at serious risk of heart failure, kidney disease, seizures, diabetes, spleen rupture and gallstones, but have a good chance of survival with treatment, but also a poor chance of survival without any treatment

Thalessemia changes the function of a key collagen forming process, that can result in any kind of collagen disorder, including Marfans, EDS, PXE, and unspecified collagen disorders. This could be why no one has found an EDS gene

Thalessemia can change bone growth patterns and cause uneven growth of bone by increasing bone marrow activity randomly to deal with genetic anemia. This often results in mismatched symmetry, and scoliosis

Thalassemia often activates around puberty in heterozygous carriers, and can cause dsyfunctional hormone levels that might increase the risk of developing pelvic pain syndrome, and/or endometriosis

The most obvious sign of having it is just, chronic fatigue, intolerance to exercise, problems sleeping, and problems thinking. Most people are very pale and have a lack of blood flow at the the surface of the skin. It causes either low body temperature or hot chronic fevers

Thalessemia dramatically increases the activity of an enzyme called Angiotensin-converting enzyme, or ACE, that narrows blood vessels and increases blood pressure causing hypertension

This causes a variety of illnesses depending on the locations of the ACE enzyme, such as coronary heart disease and migraines.

Medications that turn off the over active ACE enzyme are called ACE inhibitors mayoclinic.org/diseases-condi…

Thalassemia also highly increases the activity of an enzyme called arginase, which carries out a key metabolic pathway. However too much arginase activity decreases activity of NO synthase, an enzyme that relaxes smooth muscles and allows sexual function en.m.wikipedia.org/wiki/Arginase

Possibly a key part of what causes both chronic erectile dsyfunction and kinds of dyspareunia, lowered muscle growth, slow healing, blood sugar problems, inflammation of the digestive tract, and possibly growth hormone problems as well

Unfortunately there's currently no direct way to turn off overactive arginase with medications, although some people can manage the worst of it by taking large amounts of L-Arginine, the amino acid supplement that binds to arginase, which lowers competition with NO synthase

This website has some introduction info to thalassemia and the areas of the world where it is common, and some mention of related hemoglobin illnesses, like hemoglobin E, common in Asia thalassemia.com/demographics.a…

There isn't much medical treatment discovered yet for thalassemia or it's complications, but an herbal medicine plant called skullcap was discovered in North America by natives to have benefits in large amounts, and it's also used in traditional chinese medicine

Which has been studied and found to contain some compounds that alter metabolic pathways in some circumstances. these have the potential to lower disease activity from many illnesses including thalassemia en.wikipedia.org/wiki/Scutellar…

This research suggests that sickle cell anemia and MCAS have a shared genetic basis, as all the sickle cell patients in the study also met criteria for MCAS. Of course the connecting link could be that thalessemia genes can cause both illnesses ncbi.nlm.nih.gov/pmc/articles/P…

It's possible that some people can develop mast cell activation disorders without having any genes for thalassemia, which seems likely, as it's a collection of illnesses

However the other way around, maybe everyone w/genes for thalassemia develops MCAS and autoimmunity is true

For example thalessemia increases the risk of developing the lung autoimmune disease, asthma. In a survey of patients, more patients who have thalessemia developed asthma than patients without it ncbi.nlm.nih.gov/pubmed/15984316

Beta thalessemia down regulates the production of a part of the immune system that is anti inflammatory, the production of natural hemorphins. This lack of an off switch for inflammatory processes can cause autoimmunity ncbi.nlm.nih.gov/pubmed/21793795

Low dose naltrexone, a medicine for many different illnesses could be an important treatment for thalassemia and it's complications, as it's action is to increase some kinds of missing hemorphins, like enkephalin ncbi.nlm.nih.gov/pubmed/28766982

Whew, long thread so far. I have some thoughts on what this means, and I'm tired so this is taking a while to write out

1. Errors in metal metabolism, such as both iron poisoning and iron deficiency could be more important than anyone thought. Mostly rare genetic disorders cause metal metabolism problems but maybe there are more common kind of metal metabolism errors

2. In people with thalessemia that leads to other illnesses they might have a clear course of treatment already available to reduce diseases activity through treating thalassemia, since most people with the "silent" form are undiagnosed especially if they don't show symptoms

3. A disease model of thalessemia where a simple genetic error can mess up so many vital processes from a known genetic error (with clear inheritance), could help create a way to test theories on heart disease, immune function, autoimmune diseases and more

4. Inherited blood disorders are considered rare genetic illnesses that affect very few, through the blood and other things then affected by blood

Studying hemoglobiniopathies in general could help reveal the degree to which blood changes/errors perpetuate chronic illness

5. looking for genetic illnesses through widespread genetic testing might be a better strategy of diagnosing patients, then waiting to do genetics tests only when someone has a clearly genetic illness

6. That many illnesses disproportionately affect minorites, the way that thalessemia affects mostly black, asians, arabs, natives, etc who are less likely to get good medical care in the first place is a terrible kind of mistake in medicine right now

7. A fundamental mistake in diagnostic medicine is to assume patients have one unknown illness, when in general most chronically ill patients have more than one illness, acting all together at the same time, in a tangled up way