ICD-10: D56.1

ICD-10 code D56.1 refers specifically to Beta thalassemia, a genetic blood disorder characterized by a deficiency in the production of beta globin chains of hemoglobin. Here are the key clinical details and descriptions associated with this condition:

General Description

• Beta Thalassemia: This condition is part of a broader group of disorders known as thalassemias, which are characterized by a deficiency in hemoglobin. It can manifest in various forms, including:
• Beta Thalassemia Major: Also known as Cooley's anemia, this is the most severe form, requiring regular blood transfusions.
• Beta Thalassemia Intermedia: A milder form that may not require regular transfusions but can still cause significant health issues.
• Beta Thalassemia Minor: Often asymptomatic, this form usually does not require treatment and is often discovered incidentally during blood tests.

Clinical Features

• Symptoms: Patients may experience symptoms such as fatigue, weakness, pallor, and growth delays in children. Severe cases can lead to complications like splenomegaly (enlarged spleen) and bone deformities due to marrow expansion.
• Diagnosis: Diagnosis typically involves blood tests that reveal anemia and abnormal hemoglobin patterns. Genetic testing can confirm mutations in the beta globin gene.

Genetic Mutations

• Types of Mutations: Beta thalassemia is caused by mutations that either reduce (Beta+) or completely eliminate (Beta0) the synthesis of beta globin chains. These mutations can vary widely among individuals and populations.

Treatment

• Management: Treatment options may include regular blood transfusions, iron chelation therapy to manage iron overload from transfusions, and in some cases, bone marrow or stem cell transplants.

Related Codes

• Other related ICD-10 codes include:
• D56.2: Delta-beta thalassemia
• D56.3: Thalassemia minor

This comprehensive understanding of Beta thalassemia under ICD-10 code D56.1 highlights its clinical significance and the need for appropriate management strategies to improve patient outcomes [1][2][3][5].