Hereditary elliptocytosis
ICD-10 D58.1 is a billable code used to indicate a diagnosis of hereditary elliptocytosis.
Hereditary elliptocytosis (HE) is a genetic condition characterized by the presence of elliptically shaped red blood cells (RBCs) in the bloodstream. This abnormality is primarily due to defects in the proteins that make up the red blood cell membrane, leading to increased fragility and susceptibility to hemolysis. Patients with HE may experience varying degrees of hemolytic anemia, which can manifest as fatigue, pallor, jaundice, and splenomegaly. The severity of symptoms often correlates with the degree of elliptocytosis and the extent of hemolysis. Genetic factors play a crucial role in the inheritance of HE, which is typically passed down in an autosomal dominant pattern. While many individuals with HE remain asymptomatic, some may require treatment, including folic acid supplementation or, in severe cases, splenectomy. The diagnosis is confirmed through blood smear analysis, which reveals the characteristic elliptical RBCs, and additional tests may be performed to rule out other hemolytic anemias and conditions such as thalassemias or sickle cell disease.
Detailed blood test results, family history, and clinical symptoms.
Diagnosis and management of patients with hemolytic anemia.
Ensure accurate differentiation from other types of anemia.
Genetic testing results and family pedigree.
Counseling patients on hereditary conditions.
Documenting the inheritance pattern is crucial.
Used to evaluate anemia severity in patients with HE.
Document the reason for the CBC and any relevant findings.
Hematologists may require additional tests for comprehensive evaluation.
Hereditary elliptocytosis is a genetic disorder characterized by the presence of elliptically shaped red blood cells, leading to hemolytic anemia.
Diagnosis is made through blood smear analysis showing elliptocytes and may be confirmed with genetic testing.
Treatment may include folic acid supplementation, monitoring for anemia, and in severe cases, splenectomy.
