Severe autosomal recessive macrothrombocytopenia is a rare inherited blood disorder characterized by abnormally low levels of platelets in the blood. Platelets are important for clotting and help to prevent excessive bleeding. People with this disorder may experience frequent nosebleeds, bruising, and bleeding from the gums. Treatment typically involves medications to help increase platelet levels and prevent bleeding.

The symptoms of Severe autosomal recessive macrothrombocytopenia can vary from person to person, but may include:

-Easy bruising
-Frequent nosebleeds
-Excessive bleeding from cuts or scrapes
-Heavy menstrual bleeding
-Prolonged bleeding after dental procedures
-Blood in the urine or stool
-Fatigue
-Pale skin
-Enlarged spleen
-Joint pain
-Headaches
-Nausea
-Abdominal pain

1. Mutations in the ANKRD26 gene
2. Mutations in the MYH9 gene
3. Mutations in the GFI1 gene
4. Mutations in the GP1BA gene
5. Mutations in the ITGA2B gene
6. Mutations in the ITGB3 gene
7. Mutations in the WAS gene
8. Mutations in the RBM8A gene
9. Mutations in the STXBP5 gene
10. Mutations in the DOCK8 gene

1. Platelet transfusions: Platelet transfusions are the mainstay of treatment for severe autosomal recessive macrothrombocytopenia. Platelet transfusions can help to temporarily increase the platelet count and reduce the risk of bleeding.

2. Splenectomy: Splenectomy is a surgical procedure to remove the spleen. This can help to reduce the destruction of platelets and improve the platelet count.

3. Immunosuppressive therapy: Immunosuppressive therapy can help to reduce the destruction of platelets by the immune system. This can help to improve the platelet count.

4. Bone marrow transplant: Bone marrow transplant is a procedure to replace the bone marrow with healthy bone marrow from a donor. This can help to improve the platelet count.

5. Gene therapy: Gene

1. Family history of the disorder
2. Genetic mutations in the MYH9 gene
3. Low platelet count
4. Abnormal platelet size
5. Abnormal platelet function
6. Bleeding episodes
7. Low levels of clotting factors
8. Abnormal liver function tests
9. Abnormal kidney function tests
10. Abnormal white blood cell count

At this time, there is no cure for severe autosomal recessive macrothrombocytopenia. Treatment focuses on managing symptoms and preventing complications. Medications such as corticosteroids, immunoglobulins, and platelet transfusions may be used to help manage symptoms. In some cases, a bone marrow transplant may be recommended.