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What is Aplastic Anemia?

"Aplastic" is a Greek word meaning "not to form". 

Anemia is when the red blood cell count is low.

Aplastic anemia is a rare blood disorder. Approximately 600 patients in the United States every year are newly diagnosed. Most patients are children or young adults. The disease destroys bone marrow and lowers the number of functional blood cells in the body. Bone marrow failure can lead to anemia, hemorrhage, and increased risk of infections. In its severe form, aplastic anemia is often fatal if not treated. Aplastic anemia can occur for a number of reasons, including benzene exposure, radiation, hepatitis, or an inherited defect. In most cases, the patient's own immune system destroys the marrow.

Regular blood transfusions, Immunosuppressive Therapy are some ways to treat Aplastic Anemia, but the only known "cure" is a bone marrow transplant.

A bone marrow transplant is also called a stem cell transplant or hematopoietic stem cell transplant The procedure replaces unhealthy blood-forming stem cells with healthy ones and offers some patients the possibility of a cure. But for many patients, a bone marrow transplant is not an option due to the risks and potential long-term side effects.


What is MDS?

Myelodysplastic syndromes

(MDS) is a family of rare disorders in which the bone marrow fails to make enough healthy red blood cells, white blood cells and platelets. Instead, it produces underdeveloped, or immature, cells that have an abnormal shape, size or look.

What does "myelodysplastic” mean?

Myelo = blood cells

Dysplastic = abnormal cell development

Early on there are typically no symptoms. Later symptoms may include feeling tired, shortness of breath, easy bleeding, or frequent infections. Some types may develop into acute myeloid leukemia.

Risk factors include previous chemotherapy or radiation therapy, exposure to certain chemicals such as tobacco smoke, pesticides, and benzene, and exposure to heavy metals such as mercury or lead. Problems with blood cell formation result in some combination of low red blood cells, low platelets, and low white blood cells.

Some types have an increase in immature blood cells, called blasts, in the bone marrow or blood. The types of MDS are based on specific changes in the blood cells and bone marrow.

Treatments may include supportive care, drug therapy, and stem cell transplantation. Supportive care may include blood transfusions, medications to increase the making of red blood cells, and antibiotics. Drug therapy may include the medication lenalidomide, antithymocyte globulin, and azacitidine, among others. Certain people can be cured with chemotherapy followed by a stem cell transplant from a donor.

About 7 per 100,000 people are affected with about 4 per 100,000 people newly acquiring the condition each year. The typical age of onset is 70 years old.

The outlook depends on the type of cells affected, the amount of blasts in the bone marrow or blood, and the changes present in the chromosomes of the affected cells. The conditions were first recognized in the early 1900s. The current name came into use in 1976.

There are many subtypes of MDS. Some cases are mild, while others are more severe, and carry a high risk of becoming acute myelogenous leukemia (AML). The subtype you have, and the severity of your case, depend on many factors, including how low your blood counts are and any genetic changes you have in your bone marrow cells.

Studies suggest that 12,000 to 15,000 MDS cases are newly diagnosed annually in the U.S., and an estimated 50,000 to 75,000 people currently live with MDS. The exact number of people living with MDS is unknown.

All people with MDS have two things in common:

1. They have a low blood cell count for at least one blood cell type. This is called a cytopenia.

2. Their bone marrow and blood contain blood cells with an abnormal shape, size or look.

Mr. Dave's Gift, Inc. Board Member, Mike Jacques: 

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What is PNH?

Paroxysmal nocturnal hemoglobinuria

(PNH) is an ultra-rare bone marrow failure disease in which red blood cells break apart. Normal red blood cells have a shield of proteins that protect them from coming under attack by the body's own immune system. PNH occurs because that protein shield is missing.

Paroxysmal nocturnal hemoglobinuria from:

Paroxysmal - means "sudden and irregular"

Nocturnal - means "at night"

Hemoglobinuria - means "hemoglobin in urine";

hemoglobin, the red part of red blood cells, makes urine look dark

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disease that causes red blood cells to break apart. Doctors call this breaking apart "hemolysis." It happens because the surface of a person’s blood cells are missing a protein that protects them from the body's
immune system.

When red blood cells break apart, the hemoglobin inside is released. Hemoglobin is the red part of red blood cells that carries oxygen around the body. The release of hemoglobin causes many of the PNH symptoms.

PNH can appear at any age and in any race or gender but is diagnosed most often in people in their 30s and 40s. Experts estimate between 400 and 500 cases are diagnosed in the U.S. each year.

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