Thalassemia
Chapter 3:Diseases of the blood and blood-forming organs
ICD-10 D56 is a billable code used to indicate a diagnosis of thalassemia.
Thalassemia is a group of inherited blood disorders characterized by reduced or absent synthesis of one or more of the globin chains that make up hemoglobin. This results in ineffective erythropoiesis and hemolytic anemia. The condition is classified into two main types: alpha thalassemia and beta thalassemia, depending on which globin chain is affected. Alpha thalassemia occurs due to deletions or mutations in the alpha-globin genes, while beta thalassemia results from mutations in the beta-globin gene. Patients with thalassemia often present with symptoms such as fatigue, pallor, and splenomegaly due to chronic hemolysis. The severity of the disease can vary widely, with some individuals being asymptomatic carriers, while others may require regular blood transfusions and chelation therapy to manage iron overload. Genetic counseling is essential for affected families, as thalassemia is inherited in an autosomal recessive manner. Diagnosis typically involves complete blood counts, hemoglobin electrophoresis, and genetic testing to confirm the specific type of thalassemia.
Detailed lab results, genetic testing, and treatment plans.
Management of chronic anemia, blood transfusion therapy, and iron overload.
Ensure accurate documentation of the specific type of thalassemia and any associated complications.
Family history, genetic testing results, and counseling notes.
Genetic counseling for families with a history of thalassemia.
Document the inheritance pattern and any genetic counseling provided.
Used to monitor hemoglobin levels in thalassemia patients.
Document the reason for the CBC and any relevant symptoms.
Hematology specialists should ensure accurate interpretation of results.
Alpha thalassemia results from mutations in the alpha-globin genes, while beta thalassemia is due to mutations in the beta-globin gene. The clinical severity and management may differ based on the type.
