D56.1
Beta thalassemia
Clinical Classification Guidelines
Inclusion Terms
- Beta thalassemia major
- Cooley's anemia
- Homozygous beta thalassemia
- Severe beta thalassemia
- Thalassemia intermedia
- Thalassemia major
Excludes Type 1
- beta thalassemia minor (D56.3)
- beta thalassemia trait (D56.3)
- delta-beta thalassemia (D56.2)
- hemoglobin E-beta thalassemia (D56.5)
- sickle-cell beta thalassemia (D57.4-)
Medical Intelligence & Overview
Beta thalassemia is a hereditary blood disorder characterized by reduced or absent production of hemoglobin chains, leading to anemia and other health issues. The severity of the condition can vary, ranging from mild to severe, and it is classified in different forms including thalassemia major, often known as Cooley's anemia. This condition is inherited in an autosomal recessive pattern and primarily affects persons of Mediterranean, Middle Eastern, Southeast Asian, and African descent.
Causes & Symptoms
Clinical Causes: Inherited genetic mutation affecting the beta globin gene Homozygous inheritance, meaning both parents pass the defective gene Autosomal recessive pattern, requiring both copies of the gene to be affected
Key Symptoms: Persistent fatigue and weakness Pale or jaundiced skin (yellowing) Delayed growth and development in children Facial deformities, such as a prominent forehead or cheekbones Enlarged spleen and liver Dark urine due to hemolysis Leg ulcers in severe cases Severe anemia often requiring regular blood transfusions
Diagnostic & Treatment
Diagnosis Path: Diagnosis typically involves blood tests to evaluate hemoglobin levels, complete blood counts (CBC), and hemoglobin electrophoresis. Genetic testing can confirm mutations in the beta globin gene. In infants and young children, additional tests might be performed to assess the extent of anemia and organ involvement, including ultrasound imaging and bone marrow examination.
Treatment Protocols: Treatment options focus on managing symptoms and preventing complications. These include:
Clinical Advice & FAQs
Billing Guidance
Is D56.1 a billable ICD-10 code?
Yes, D56.1 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report D56.1?
Clinical documentation must specify the nature of Beta thalassemia and any associated comorbidities for accurate reporting.
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