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5 Rare Diseases Treated by Plasma Protein Therapies

Plasma is the often forgotten part of blood. It is the serum portion of blood that does not contain cells. It does, however, contain a variety of proteins.

Healthy plasma contains proteins that clot blood and protect against infection. Plasma proteins also control body fluids, control blood pressure, and support the immune system. When plasma proteins are low or missing, serious health conditions can result.

There are about 250 proteins found in plasma, including albumin, a blood protein produced by the liver. Albumin is most commonly found in blood and is the main protein in plasma. Albumin is a protein that is produced by the liver. It is a major component of blood plasma. Plasma helps in the clotting process, transports nutrients and carries waste products out of the body.

Plasma protein therapies are used to treat a variety of rare diseases and conditions. Many of these diseases are genetic disorders. Here are 5 of the rare diseases treated by plasma protein therapies.

1. Tay-Sachs Disease

Tay-Sachs is a progressive, genetic disease. It is a lipid storage disorder that involves an enzyme deficiency. People with Tay-Sachs can have problems with their muscles, eyes and nervous system. Alzheimer’s disease is more common in individuals with this disease. This disease can cause brain atrophy, mental retardation, and blindness. Children with Tay-Sachs usually die within their first 5 years of life. There is no cure for this disease, but enzyme replacement therapy is used to treat the symptoms.

Plasma protein therapies are used throughout the world to treat this disease. This gene therapy is used to treat the missing enzyme in individuals with Tay-Sachs disease. Healthy donor cells are collected and their plasma is separated. The plasma is treated and placed into the individual with Tay-Sachs.

2. Hemophilia

Hemophilia is a rare genetic disorder. It is characterized as a bleeding disorder, and it affects males. Hemophilia can be caused by minor injuries, or a simple blood draw. Cut wounds or surgical procedures can cause internal bleeding in people with hemophilia.

People with this condition have a severe deficiency in the clotting factors important to blood clotting (clotting factors are protein-coated molecules that hold the blood cells together).

Plasma protein therapies are used to treat people with hemophilia. This is a gene therapy that uses healthy donor cells to replace the missing clotting factor. Untreated hemophiliacs have a risk of brain hemorrhage, bleeding into joints and muscles, and internal bleeding. People with hemophilia must receive treatment before each surgery, and after each serious injury.

3. IgA deficiency

IgA deficiency is the most common primary antibody deficiency. IgA plays a critical role in protecting the body from invaders and toxins. IgA deficiency can cause serious illness, including infections affecting the eyes, ears, and sinuses. Autoimmune disorders and allergies can also develop. 

4. Neonatal Isoimmune Thrombocytopenia

Neonatal Isoimmune Thrombocytopenia (NIIT) is a rare, inherited bleeding disorder. It is characterized by the presence of antibodies that attack the body’s own platelets. Patients may develop bleeding in the brain, eyes, skin, and intestines. Only five cases have been reported to date.

5. Thrombotic thrombocytopenic purpura (TTP)

Thrombotic thrombocytopenic purpura (TTP) is a rare autoimmune disease. It occurs when there is a malfunction in the body’s clotting system. This leads to small blood clots in the blood vessels, which prevents blood from properly flowing through the body. Patients can experience confusion, headaches, and high fever. TTP can lead to extreme bleeding, kidney failure, and death.


Plasma proteins are a vital part of the human body. Unfortunately, diseases can deplete the body’s supply of plasma proteins. This can lead to a variety of illnesses and potentially life-threatening conditions.

Plasma protein therapies are used to treat a variety of rare diseases and conditions. People with hemophilia, Tay-Sachs, or IgA deficiency can use these therapies to replace the missing or low-levels of proteins.

If you are interested in plasma donation in NJ, get in touch with Thplasma. We are a reliable plasma donation center that’s driven by innovation and guided by genuine care for our donors. Contact us now to learn how to become a donor.