Hereditary spherocytosis
ICD-10 D58.0 is a billable code used to indicate a diagnosis of hereditary spherocytosis.
Hereditary spherocytosis (HS) is a genetic disorder characterized by the production of abnormally shaped red blood cells (RBCs) that are spherical rather than the typical biconcave disc shape. This condition is primarily caused by defects in the proteins that make up the red blood cell membrane, leading to increased fragility and hemolysis (destruction of red blood cells). Patients with HS often present with symptoms of hemolytic anemia, including fatigue, pallor, jaundice, and splenomegaly. The condition is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for the disease to manifest. The severity of HS can vary widely among affected individuals, with some experiencing mild symptoms while others may require medical intervention such as splenectomy. Diagnosis is typically confirmed through blood tests showing spherocytes on a peripheral blood smear, elevated reticulocyte counts, and osmotic fragility tests. Management may include folic acid supplementation, blood transfusions, and in severe cases, surgical intervention.
Complete blood count (CBC) results, reticulocyte counts, and genetic testing results.
Patients presenting with anemia, jaundice, or splenomegaly.
Ensure that all laboratory results and clinical findings are documented to support the diagnosis.
Family history of hereditary conditions, genetic test results, and counseling notes.
Patients undergoing genetic testing for hereditary spherocytosis.
Documentation must clearly outline the inheritance pattern and any genetic counseling provided.
Used to evaluate anemia in patients suspected of having hereditary spherocytosis.
Document the reason for the CBC and any relevant clinical findings.
Hematology specialists should ensure that all lab results are clearly linked to the diagnosis.
Common symptoms include fatigue, pallor, jaundice, and splenomegaly. Patients may also experience episodes of hemolytic crises.
