Anemia fanconi’s disease is a blood disorder in the bone marrow that does not make enough blood cells or makes abnormal blood cell types.
Anemia fanconi is a rare genetic disease and can cause impaired response to DNA damage. Although this is a rare disorder, this study and other bone marrow failure syndromes have improved paramedic understanding of the mechanism of normal bone marrow function and cancer development.
Bone marrow is spongy material in the bone that produces white blood cells and red blood and blood platelets. Red blood cells carry oxygen throughout the human body, and white blood cells help fight infections in the body and platelets help clotting. All of these cells die after a certain period of time.
Most people with fanconi anemia are generally diagnosed between the ages of 2 to 15 years. People who have this anemia may only live for 20 to 30 years according to medical predictions.
Symptoms of fanconi anemia
Fanconi’s anemia is characterized by bone marrow failure, solid tumors, and developmental abnormalities. Other symptoms include abnormal thumbs, short stature, skin hyperpigmentation, abnormal facial features (triangular face, microcephaly), abnormal kidneys, and decreased fertility. Many fanconi anemia patients (about 30%) do not have classic physical findings, but chromosomal fragility testing shows an increase in chromosomal rest can make a diagnosis. Approximately 80% of anemia will experience bone marrow failure at the age of 20 years.
The first sign of a hematologic problem is usually bruising, pale appearance, feeling tired, and infection. Because macrocytosis usually precedes low platelet counts, patients with typical congenital anomalies associated with fanconi anemia should be evaluated for an increase in the average cell volume of red blood cells.
Causes of fanconi anemia
From several world studies Thirteen genes have been linked to this disease. If one of your parents has fanconi anemia, you might carry the gene and can pass it on to your children later on, even if you don’t have the condition.Gejala anemia Fanconi
Here are some of the signs and symptoms of Fanconi anemia:
- Birth defects involving the kidneys, hands, feet, bones, spine, eyesight, up to hearing
- birth weight is very low
- difficulty eating
- lack of appetite
- learning disability / difficulty understanding something that is taught
- slow growth in the body
- head tapers
- fatigue / weakness during activities
- anemia or an always low amount of blood
Bone marrow failure, also called aplastic anemia, means that your body does not make enough red blood cells, white blood cells, when your body does not produce enough red blood cells or anemia. And not producing enough white blood cells, you are very at risk of infection, if your body does not make enough platelets, you are at risk for bleeding problems that can be fatal.
Other symptoms may appear later. For example, women with Fanconi anemia may menstruate slower than their peers and have difficulty conceiving or they may experience early menopause.
Treatment of Fanconi anemia
Medical personnel and researchers have many approaches to treat Fanconi anemia. But depending on your age and how well your bone marrow works, these are possible treatments:
- Provision of antibiotics to help fight infections.
- Perform operations to correct birth defects or digestive problems.
- Blood transfusion although it is considered a short-term option.
- Medications that can help the body make blood cells more effective.
- Blood cell and stem marrow transplantation, you receive blood cells from other people. If successful, the cells donated to your body will likely make their own red blood cells, white blood cells and platelets.
- With androgen therapy.
- Synthetic growth factors, this method is a drug to help your body produce more red blood cells, white blood cells and platelets.
- With gene therapy. KLIK READ MORE