An additional concern for adults is hepatitis C virus infection, which may have been acquired via a blood transfusion prior to the start of blood donor screening in the 1990s. Hepatitis C combined with iron overload in the liver can worsen fibrosis and promote hepatocellular carcinoma. Most cases observed by Drs Taher and Cappellini have been in patients older than 45. However, direct-acting antiviral drugs for the treatment of hepatitis C are improving survival and reducing recurrence rates in patients with hepatocellular carcinoma.
Drs Taher and Cappellini emphasized that diagnosis and management of liver disease in patients with beta-thalassemia should be closely monitored in collaboration with a hepatologist for iron overload, hepatitis infection, and hepatic injury.
Due to abnormalities in platelets and red blood cells, patients with beta-thalassemia are in a hypercoagulable state and at risk for clinical thrombosis. Clinical thrombosis is a leading cause of mortality in patients with beta-thalassemia and is 4 times more common in patients with non-transfusion-dependent thalassemia than in transfusion-dependent patients.
When treating patients with beta-thalassemia, Drs Taher and Cappellini follow the same standard local and international guidelines for treating thrombotic disease as in patients without thalassemia. When prophylaxis is needed, they use enoxaparin. Furthermore, the team explains that transfusion therapy has been associated with lower rates of thromboembolic events in patients with non-transfusion-dependent thalassemia in their clinics; they promote an individualized approach for determining a transfusion schedule for such patients depending on their clinical responses. Finally, the authors also administer aspirin to all splenectomized patients regardless of platelet counts in those patients.
Pulmonary hypertension is associated with anemia, hemolysis, and platelet coagulability, and it often presents in patients with beta-thalassemia as pulmonary arterial hypertension. The authors note that this hypertension may arise secondary to chronic thromboembolic disease. Similar to thrombotic disease, non-transfusion-dependent patients exhibit pulmonary hypertension 5 times more than transfusion-dependent patients.
As with thrombotic disease, transfusion therapy was found to be effective at preventing pulmonary hypertension in their clinics. Drs Taher and Cappellini advise that this approach should be scheduled based on patients’ individual responses to therapy.
An Individualized, Multidisciplinary Strategy
“The only current cure available now is bone marrow transplant,” explained Drs. Taher and Cappellini. “We are waiting to see the final results of gene therapy studies to see if there is now a new option for a cure, at least in a subset of patients. Otherwise, the main aim is to treat patients with adequate transfusion and iron chelation from early childhood to prevent later complications and to ensure multidisciplinary management teams are caring for existing adult patients with multiple morbidities.”
The authors recommend that in addition to working closely with hepatologists and cardiologists, patients with beta-thalassemia should receive psychological care for issues that may develop surrounding their relationships and marriages, workplace and financial duties, and medical maintenance.
Taher AT, Cappellini MD. How I manage medical complications of beta-thalassemia in adults [published online ahead of print, September 11, 2018]. Blood. doi:10.1182/blood-2018-06-818187.