Main Image

About Adult-onset autosomal recessive sideroblastic anemia

What is Adult-onset autosomal recessive sideroblastic anemia?

Adult-onset autosomal recessive sideroblastic anemia (ARSA) is a rare inherited disorder characterized by a deficiency of red blood cells (anemia) and the presence of abnormal iron-containing granules (sideroblasts) in the bone marrow. It is caused by mutations in the ALAS2 gene, which is responsible for the production of an enzyme involved in heme synthesis. Symptoms of ARSA include fatigue, weakness, pale skin, and shortness of breath. Treatment typically involves blood transfusions and iron chelation therapy.

What are the symptoms of Adult-onset autosomal recessive sideroblastic anemia?

The symptoms of Adult-onset autosomal recessive sideroblastic anemia include fatigue, weakness, pale skin, shortness of breath, rapid heart rate, headaches, dizziness, and coldness in the hands and feet. Other symptoms may include jaundice, an enlarged spleen, and an enlarged liver.

What are the causes of Adult-onset autosomal recessive sideroblastic anemia?

Adult-onset autosomal recessive sideroblastic anemia is caused by mutations in the ALAS2 gene, which is responsible for the production of an enzyme called aminolevulinic acid synthase 2. This enzyme is involved in the production of heme, a component of hemoglobin. Mutations in the ALAS2 gene can lead to a decrease in the production of heme, resulting in anemia. Other causes of adult-onset autosomal recessive sideroblastic anemia include exposure to certain toxins, such as lead, and certain medications, such as chloramphenicol.

What are the treatments for Adult-onset autosomal recessive sideroblastic anemia?

1. Blood transfusions: Blood transfusions can help to temporarily increase the number of red blood cells in the body, providing relief from symptoms such as fatigue and shortness of breath.

2. Iron chelation therapy: Iron chelation therapy is a treatment that helps to remove excess iron from the body. This can help to reduce the risk of complications associated with iron overload.

3. Vitamin B6 supplementation: Vitamin B6 supplementation can help to reduce the amount of iron in the body and can also help to reduce the symptoms of anemia.

4. Folic acid supplementation: Folic acid supplementation can help to increase the production of red blood cells and can also help to reduce the symptoms of anemia.

5. Bone marrow transplant: A bone marrow transplant can help to replace the defective bone marrow with healthy bone marrow, which

What are the risk factors for Adult-onset autosomal recessive sideroblastic anemia?

1. Inherited genetic mutations
2. Exposure to certain medications, such as chloramphenicol, isoniazid, and phenytoin
3. Exposure to certain toxins, such as lead
4. Alcoholism
5. Malnutrition
6. Chronic liver disease
7. Certain infections, such as HIV/AIDS and hepatitis C
8. Certain cancers, such as leukemia and lymphoma

Is there a cure/medications for Adult-onset autosomal recessive sideroblastic anemia?

There is no known cure for adult-onset autosomal recessive sideroblastic anemia. Treatment typically involves managing the symptoms and complications of the condition. Medications such as iron chelators, vitamin B6, and folic acid may be prescribed to help reduce the amount of iron in the body and improve anemia symptoms. Other medications, such as corticosteroids, may be used to reduce inflammation and suppress the immune system. In some cases, a bone marrow transplant may be recommended.