How many Fanconi anemia proteins are there?

ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs. Eight proteins associated with Fanconi anemia group together to form a complex known as the FA core complex. The FA core complex activates two proteins, called FANCD2 and FANCI.

What part of the body does Fanconi anemia affect?

Fanconi anemia is a rare disease passed down through families (inherited) that mainly affects the bone marrow. It results in decreased production of all types of blood cells. This is the most common inherited form of aplastic anemia.

What is the pathophysiology of Fanconi anemia?

Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital anomalies, bone marrow failure, and leukemia susceptibility. FA cells show chromosome instability and hypersensitivity to DNA cross-linking agents such as mitomycin C.

What is the genetic cause of Fanconi anemia?

Fanconi anemia is an inherited disease caused by mutations in certain genes, known as FA genes. These genes provide instructions to help the body repair certain types of DNA damage. The cells of healthy people often repair DNA damage, but cells affected by Fanconi anemia cannot make these repairs.

What is Fanconi Anemia Group A?

Fanconi anemia, group A is an autosomal recessive disease caused by pathogenic variants in the gene FANCA. While it has been detected in multiple ethnicities, it is most prevalent Sephardic Jewish individuals from northern Africa, as well as the Roma population in Spain.

What is the function of protein S?

Protein S is involved in many cellular activities, including inhibition of the blood coagulation cascade, inhibition of inflammation, clearance of apoptotic bodies, angiogenesis and cell survival. Protein S functions as an anticoagulant by inhibiting FIXa and by serving as a cofactor for APC and TFPI.

What is the oxygen binding protein found in erythrocytes?

The protein that binds oxygen in human blood is called hemoglobin. It is a multisubunit protein with four subunits that each consists of a prosthetic…

What is the FA pathway?

The FA pathway, also called the FA-BRCA pathway, is a fundamental DNA repair pathway that recognizes DNA damage and orchestrates DNA damage responses, especially for DNA interstrand crosslink (ICL) repair (Su and Huang, 2011).

What do FA genes do?

Eight proteins form a complex known as the FA core complex, which activates two genes to make proteins, called FANCD2 and FANCI. The activation of these two proteins brings DNA repair proteins to the area of DNA damage.

How is Fanconi anemia treated?

Stem cell transplant is the current standard treatment for Fanconi anemia that is causing major bone marrow failure. Growth factors—are natural or man-made growth substances that help the body make more red and white blood cells.

What is red cell aplasia?

Acquired Pure Red Cell Aplasia is a rare bone marrow disorder characterized by an isolated decline of red blood cells (erythrocytes) produced by the bone marrow. Affected individuals may experience fatigue, lethargy, and/or abnormal paleness of the skin (pallor).

How does Fanconi anemia affect DNA replication?

Eight proteins associated with Fanconi anemia group together to form a complex known as the FA core complex. The FA core complex activates two proteins, called FANCD2 and FANCI. The activation of these two proteins brings DNA repair proteins to the area of the ICL so the cross-link can be removed and DNA replication can continue.

Does Fanconi anemia increase the risk of cancer?

Individuals with Fanconi anemia have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML) or tumors of the head, neck, skin, gastrointestinal system, or genital tract. The likelihood of developing one of these cancers in people with Fanconi anemia is between 10 and 30 percent.

What are the symptoms of Fanconi anemia?

Other possible symptoms of Fanconi anemia include malformed thumbs or forearms and other skeletal problems including short stature; malformed or absent kidneys and other defects of the urinary tract; gastrointestinal abnormalities; heart defects; eye abnormalities such as small or abnormally shaped eyes; and malformed ears and hearing loss.

What is the frequency of Fanconi anemia in the Ashkenazi population?

The carrier frequency in the Ashkenazi Jewish population is about one in 90. Genetic counseling and genetic testing are recommended for families who may be carriers of Fanconi anemia.