Question

Write 4 absolute indications amongst rare inherited disorders.

Hint:

For inherited disorders like SCID and Wiskott-Aldrich Syndrome, early diagnosis and HSCT offer the best outcomes, preventing life-threatening complications.

Answer 1

Absolute indications for haemopoietic stem cell transplantation (HSCT) among rare inherited disorders are conditions where the benefits of transplantation significantly outweigh the risks, offering potential for a cure or long-term survival.
Step 1: Common Indications for HSCT in Inherited Disorders:
1. Severe Combined Immunodeficiency (SCID): SCID is a group of rare genetic disorders characterized by a severe defect in the immune system. HSCT is the treatment of choice to restore immune function.
2. Wiskott-Aldrich Syndrome: This rare inherited disorder affects the immune system and platelets. HSCT can provide a cure for this condition and prevent life-threatening infections and bleeding.
3. Hurler Syndrome (Mucopolysaccharidosis type I): This genetic disorder affects multiple organs. HSCT can help improve organ function and reduce symptoms if performed early in life.
4. Fanconi Anemia: A rare inherited blood disorder that increases the risk of leukemia and other cancers. HSCT can improve blood counts and decrease the risk of cancer in these patients.