D57.4
Sickle-cell thalassemia
Clinical Classification Guidelines
Inclusion Terms
- Sickle-cell beta thalassemia
- Thalassemia Hb-S disease
Medical Intelligence & Overview
Sickle-cell thalassemia, also known as sickle-cell beta thalassemia or thalassemia Hb-S disease, is a genetic blood disorder that combines features of sickle-cell disease and thalassemia. It affects the production of hemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. People with this condition often face anemia and related health issues due to the abnormal shape and decreased lifespan of their red blood cells.
Causes & Symptoms
Clinical Causes: Inherited genetic mutation from both parents Presence of abnormal hemoglobin gene (hemoglobin S combined with beta thalassemia mutation) Autosomal recessive inheritance pattern, meaning both copies of the gene must be affected for the disease to manifest
Key Symptoms: Chronic anemia leading to fatigue and weakness Episodes of pain (especially in the chest, abdomen, and joints) Swelling in hands and feet Frequent infections Delayed growth and puberty in children Jaundice (yellowing of the skin and eyes) Poor appetite and weight loss Paleness or tiredness Difficulty breathing during pain crises
Diagnostic & Treatment
Diagnosis Path: Diagnosis typically involves blood tests such as a hemoglobin electrophoresis to identify abnormal hemoglobin types. A complete blood count (CBC) can reveal anemia, while genetic testing confirms the presence of specific gene mutations. Additional tests may include ultrasound or imaging to assess organ health and possible complications.
Treatment Protocols: While there is no universal cure, treatment focuses on managing symptoms and preventing complications. Approaches may include:
Clinical Advice & FAQs
Billing Guidance
Is D57.4 a billable ICD-10 code?
Yes, D57.4 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report D57.4?
Clinical documentation must specify the nature of Sickle-cell thalassemia and any associated comorbidities for accurate reporting.
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