Constitutional (pure) red blood cell aplasia
ICD-10 D61.01 is a billable code used to indicate a diagnosis of constitutional (pure) red blood cell aplasia.
Constitutional (pure) red blood cell aplasia is a rare hematological disorder characterized by the selective failure of erythropoiesis, leading to a significant reduction in red blood cell production. This condition is often congenital and can be associated with genetic mutations affecting erythroid progenitor cells in the bone marrow. Patients typically present with symptoms of anemia, including fatigue, pallor, and shortness of breath. The diagnosis is confirmed through bone marrow biopsy, which reveals a marked reduction or absence of erythroid precursors while other hematopoietic lineages remain intact. Aplastic anemia, a broader category that includes various forms of bone marrow failure, can also lead to red blood cell aplasia but is distinguished by the involvement of multiple blood cell lineages. Treatment options may include supportive care, erythropoietin-stimulating agents, and in severe cases, bone marrow transplantation. Understanding the underlying causes and appropriate management strategies is crucial for improving patient outcomes.
Detailed lab results, bone marrow biopsy reports, and treatment plans.
Diagnosis of constitutional red blood cell aplasia in pediatric patients, management of anemia in adults.
Ensure accurate differentiation from other hematological disorders and document any genetic testing results.
Growth and developmental assessments, family history of hematological disorders.
Evaluation of anemic children with suspected congenital disorders.
Consider the implications of genetic counseling and family history in coding.
Used to evaluate anemia severity and monitor treatment response.
Document the reason for the CBC and any relevant findings.
Hematologists should ensure that the CBC is interpreted in the context of the patient's overall clinical picture.
Constitutional red blood cell aplasia is primarily caused by genetic mutations affecting erythroid progenitor cells in the bone marrow, leading to a failure in red blood cell production.