Knowra Sideroblastic anemia Sideroblastic anemia Sideroblastic anemia is a group of disorders in which developing red blood cells accumulate mitochondrial iron around their nuclei because heme production is impaired. It may be inherited or acquired.
Heme biosynthesis : The biochemical pathway that produces heme from glycine and succinyl-CoA, with steps in mitochondria and cytosol. Disruptions in this pathway leave iron unused for heme and accumulating in erythroblast mitochondria.
ALAS2 : A mitochondrial enzyme that catalyzes the first, rate-limiting step of heme synthesis in erythroid cells. Pathogenic variants in this gene cause the most common X-linked inherited sideroblastic anemia.
Bone marrow examination : A diagnostic procedure that samples marrow to assess blood-forming cells, their maturation, and marrow architecture. Iron staining of marrow can establish the presence and proportion of ring sideroblasts.
Iron deficiency anemia : An anemia caused by insufficient iron for hemoglobin synthesis, typically with low iron stores and microcytic red cells. Unlike sideroblastic anemia, iron deficiency reflects too little available iron rather than iron trapped in erythroblast mitochondria.
Ring sideroblast : An erythroblast with iron-laden mitochondria arranged in a ring around its nucleus, visible with Prussian blue staining. This marrow finding gives the disorder group its name and reflects mitochondrial iron accumulation.
X-linked sideroblastic anemia : An inherited sideroblastic anemia usually caused by pathogenic variants in ALAS2. It is a defined inherited form in which impaired erythroid heme synthesis can respond to pyridoxine.
Complete blood count : A blood test measuring red cells, white cells, platelets, hemoglobin, and related indices. It establishes the anemia and helps characterize red-cell size and other blood-cell abnormalities.
Thalassemia : A group of inherited disorders caused by reduced or absent production of one or more globin chains. Both conditions can cause microcytosis, but thalassemia arises from globin-chain imbalance rather than defective heme synthesis.
Erythropoiesis : The process by which hematopoietic stem cells develop into mature red blood cells. Sideroblastic disorders disrupt red-cell production, often causing ineffective erythropoiesis.
Myelodysplastic neoplasm with ring sideroblasts : A clonal myelodysplastic neoplasm characterized by dysplasia and ring sideroblasts in bone marrow. This acquired marrow disease is a major cause of ring sideroblasts in older adults.
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