Congenital autosomal recessive small-platelet thrombocytopenia (CARST) is a rare inherited disorder characterized by a decrease in the number of platelets in the blood. Platelets are important for normal blood clotting, and a decrease in their number can lead to excessive bleeding. CARST is caused by mutations in the gene that codes for the platelet glycoprotein Ibα (GPIbα). Symptoms of CARST can include easy bruising, nosebleeds, and bleeding from the gums. Treatment typically involves platelet transfusions and medications to help reduce bleeding.

The symptoms of Congenital autosomal recessive small-platelet thrombocytopenia (CARST) vary from person to person, but may include:

- Easy bruising

- Excessive bleeding from cuts or injuries

- Nosebleeds

- Bleeding gums

- Blood in the urine or stool

- Heavy menstrual bleeding

- Fatigue

- Pale skin

- Weakness

- Shortness of breath

- Headaches

- Dizziness

- Confusion

- Abnormal bleeding during or after surgery

Congenital autosomal recessive small-platelet thrombocytopenia is caused by mutations in genes that are involved in the production of platelets. These genes include GFI1, WAS, ITGA2B, and ITGB3. Mutations in these genes can lead to a decrease in the production of platelets, resulting in thrombocytopenia.

1. Platelet transfusions: Platelet transfusions can be used to temporarily increase the number of platelets in the blood.

2. Splenectomy: Splenectomy is a surgical procedure to remove the spleen, which can help to increase the number of platelets in the blood.

3. Immunosuppressive therapy: Immunosuppressive therapy can be used to reduce the body’s immune response, which can help to increase the number of platelets in the blood.

4. Bone marrow transplant: A bone marrow transplant can be used to replace the defective bone marrow with healthy bone marrow, which can help to increase the number of platelets in the blood.

5. Gene therapy: Gene therapy is a new and experimental treatment that involves introducing a healthy gene into the body to replace the defective gene. This

1. Family history of the disorder
2. Maternal exposure to certain medications or infections during pregnancy
3. Maternal age over 35
4. Maternal diabetes
5. Maternal obesity
6. Maternal smoking
7. Maternal alcohol consumption
8. Maternal use of certain drugs, such as anticonvulsants or antibiotics
9. Maternal exposure to radiation
10. Maternal exposure to certain chemicals or toxins

There is no cure for Congenital autosomal recessive small-platelet thrombocytopenia. Treatment is focused on managing symptoms and preventing complications. Medications such as corticosteroids, immunoglobulins, and platelet transfusions may be used to help manage symptoms.