Hemoglobin E-beta thalassemia
ICD-10 D56.5 is a billable code used to indicate a diagnosis of hemoglobin e-beta thalassemia.
Hemoglobin E-beta thalassemia is a genetic blood disorder characterized by the production of abnormal hemoglobin, specifically Hemoglobin E, in conjunction with beta thalassemia. This condition arises from mutations in the HBB gene, which encodes the beta-globin subunit of hemoglobin. Patients with Hemoglobin E-beta thalassemia typically exhibit varying degrees of anemia, which can range from mild to severe, depending on the specific genetic mutations inherited. The condition is prevalent in Southeast Asian populations and can lead to symptoms such as fatigue, pallor, and splenomegaly due to increased hemolysis and ineffective erythropoiesis. Laboratory findings often reveal microcytic hypochromic anemia, elevated levels of Hemoglobin E, and abnormal red blood cell morphology. Management may include regular monitoring, blood transfusions, and iron chelation therapy to prevent iron overload. Genetic counseling is also recommended for affected individuals and their families to understand inheritance patterns and reproductive options.
Detailed lab results, genetic testing reports, and clinical assessments.
Management of anemia, blood transfusion therapy, and monitoring for complications.
Ensure accurate representation of hemoglobin levels and types in documentation.
Family history, genetic counseling notes, and test results.
Genetic testing for family members and counseling regarding inheritance.
Documentation must reflect the genetic basis of the condition and implications for family members.
Used to monitor hemoglobin levels and anemia status.
Document results of CBC and any relevant symptoms.
Hematology specialists should ensure comprehensive lab results are included.
Hemoglobin E-beta thalassemia is primarily caused by mutations in the HBB gene, leading to abnormal hemoglobin production and resulting in anemia.
