Alpha thalassemia
ICD-10 D56.0 is a billable code used to indicate a diagnosis of alpha thalassemia.
Alpha thalassemia is a genetic blood disorder characterized by reduced production of alpha globin chains, which are essential components of hemoglobin. This condition arises from mutations in the HBA1 and HBA2 genes located on chromosome 16. The severity of alpha thalassemia varies based on the number of affected genes: individuals with one or two gene deletions may be asymptomatic or exhibit mild anemia, while those with three or four deletions can develop more severe forms, such as hemoglobin H disease or alpha thalassemia major, respectively. Symptoms often include fatigue, pallor, and splenomegaly due to increased hemolysis. Diagnosis typically involves a complete blood count (CBC), hemoglobin electrophoresis, and genetic testing. Management may include regular blood transfusions, iron chelation therapy, and in some cases, hematopoietic stem cell transplantation. Understanding the genetic basis and clinical implications of alpha thalassemia is crucial for effective patient management and counseling.
Detailed lab results, genetic testing reports, and treatment plans.
Management of patients with varying severity of alpha thalassemia, including transfusion protocols.
Ensure accurate documentation of hemoglobin levels and any complications arising from the condition.
Family history, genetic counseling notes, and results of genetic tests.
Counseling families with a history of thalassemia and discussing reproductive options.
Documentation must clearly outline the genetic basis and implications for family members.
Used to evaluate anemia in patients suspected of having alpha thalassemia.
Ensure CBC results are included in the patient's medical record.
Hematologists may require additional tests based on CBC findings.
Alpha thalassemia results from mutations affecting alpha globin chain production, while beta thalassemia involves mutations affecting beta globin chains. The clinical manifestations and management strategies differ based on the type and severity of the thalassemia.
