Where on Chromosome is Problem?

Mutations in at least 15 genes can cause Aplastic anemia. Proteins produced from these genes are involved in a cell process known as the FA pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway sends certain proteins to the area of damage, which trigger DNA repair so DNA replication can continue. Eighty to 90 percent of cases of Aplastic anemia are due to mutations in one of three genes, FANCA, FANCC, and FANCG.

What Is the Problem?

The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together, which stops the process of DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs. The problem is, that there are some many different ways to get it genetically and non-genetically that there is no way to safeguard you.

What is the Prognosis?

Aplastic anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infections; and platelets, which are necessary for normal blood clotting. Approximately 90 percent of people with Aplastic anemia have impaired bone marrow function that leads to a decrease in the production of all blood cells (aplastic anemia). Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). People with Aplastic anemia may also develop myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally.

Cite Your Sources

Quick information about Aplastic Anemia

American Cancer Society: Aplastic Anemia