Hereditary sideroblastic anemia
ICD-10 D64.0 is a billable code used to indicate a diagnosis of hereditary sideroblastic anemia.
Hereditary sideroblastic anemia is a rare genetic disorder characterized by the body's inability to properly incorporate iron into hemoglobin, leading to the production of abnormal red blood cells known as sideroblasts. These sideroblasts accumulate in the bone marrow, resulting in ineffective erythropoiesis and subsequent anemia. The condition can be inherited in an X-linked recessive pattern or through autosomal recessive inheritance, depending on the specific genetic mutation involved. Patients often present with symptoms of anemia, such as fatigue, pallor, and weakness, alongside potential complications like splenomegaly and iron overload due to increased intestinal absorption of iron. Diagnosis typically involves a combination of clinical evaluation, complete blood count (CBC), peripheral blood smear, and bone marrow biopsy, which reveals the presence of ringed sideroblasts. Management may include vitamin B6 supplementation, blood transfusions, and chelation therapy to manage iron overload. Understanding the genetic basis and clinical implications of hereditary sideroblastic anemia is crucial for effective treatment and management.
Detailed family history, genetic testing results, and comprehensive lab findings.
Patients presenting with unexplained anemia, requiring further investigation into genetic causes.
Consideration of iron overload and its management in treatment plans.
Genetic test results, family pedigree charts, and detailed patient history.
Patients with a family history of anemia or unexplained hematological disorders.
Understanding the inheritance patterns and implications for family members.
Used to evaluate anemia severity and monitor treatment response.
Document the reason for the CBC and any relevant clinical findings.
Hematologists may require additional tests based on CBC results.
Hereditary sideroblastic anemia is primarily caused by genetic mutations that affect the heme synthesis pathway, leading to ineffective production of red blood cells.
