How is Sideroblastic Anemia caught?

Sideroblastic anemia is diagnosed with specific tests, including:

Peripheral blood smear: A blood sample is examined under a microscope to look for abnormal red blood cells. In sideroblastic anemia, the red blood cells may be small and pale, and they may contain iron deposits.

Bone marrow aspiration and biopsy: A small sample of bone marrow is removed from the hip bone and examined under a microscope. This test can show the presence of sideroblasts, which are red blood cell precursors that contain iron deposits.

Iron studies: Blood tests can measure the levels of iron in the blood and serum. In sideroblastic anemia, the serum iron level may be high, while the iron stores in the bone marrow may be low.

Genetic testing: Genetic testing can identify mutations in genes that are involved in iron metabolism and erythropoiesis (red blood cell production). These mutations can cause sideroblastic anemia.

A doctor may also order other tests, such as liver function tests, to rule out other conditions that can cause anemia.