D64.0

HCC Category Mapping

What This Code Means

An inherited genetic disorder where the body cannot properly use iron to make hemoglobin, resulting in abnormal red blood cells and anemia.

Coding Tips

• •Document family history when available to support the hereditary nature of the condition
• •Specify the type of hereditary sideroblastic anemia if documented (X-linked, autosomal, etc.)

Clinical Significance

Hereditary sideroblastic anemia is a group of inherited disorders affecting mitochondrial heme biosynthesis, most commonly caused by mutations in the ALAS2 gene (X-linked sideroblastic anemia), resulting in defective hemoglobin production and characteristic ring sideroblasts visible on bone marrow iron staining. Despite having anemia, patients accumulate excess iron in their tissues because the body cannot properly incorporate iron into hemoglobin. The combination of ineffective erythropoiesis and transfusion-dependent anemia can lead to severe iron overload affecting the liver, heart, and endocrine organs.

Documentation Requirements

• ✓Document bone marrow biopsy showing ring sideroblasts (at least 15% of erythroid precursors).
• ✓Record the hereditary nature through family history, inheritance pattern, or genetic testing results identifying the specific mutation.
• ✓Include hemoglobin level, mean corpuscular volume (often microcytic in X-linked forms), serum iron studies (ferritin, transferrin saturation typically elevated), and evidence of iron overload.
• ✓Document treatment with pyridoxine (vitamin B6) supplementation (responsive in some X-linked forms), phlebotomy or chelation therapy for iron overload, and transfusion requirements.

Commonly Confused Codes