Abstract
Rationale: Beta thalassemia is a congenital defect in the production of the beta globin chain. Patients with beta thalassemia major will have higher levels of hemoglobin F (HbF), which is suboptimal in releasing oxygen to tissue. Herein, we describe the use of red blood cell (RBC) exchange transfusion, a therapy typically used in sickle cell patients, in the management of a patient with beta thalassemia with extensive extramedullary hematopoiesis and elevated levels of HbF.Patient concerns: A 34-year-old male of mixed African American and Southeast Asian descent with a known history of beta thalassemia major presented with progressive dyspnea on exertion with marked fatigue.Diagnoses: The patient was transferred to our facility for management of acute hypoxemic, hypercapnic respiratory failure associated with cor pulmonale.Interventions: The patient was initially managed with non-invasive positive pressure support ventilation (NIPPV) and intravenous diuresis. Hydroxyurea and epoprostenol nebulization were added to his treatment regimen; however, he progressively became more unstable, necessitating inotropic support. With extramedullary hematopoiesis leading to mass-like effect on critical organs and very high HbF (96%) thought to contribute to his presentation, red blood cell exchange transfusion was initiated once the blood pressure stabilized.Outcomes: The patient clinically improved, and was discharged home within a week on supplemental oxygen by nasal cannula and long-term red blood cell exchange.Lessons: We postulated that significantly elevated HbF contributed to the patient’s chronic hypoxia and subsequent respiratory complications. Based on the patient's clinical improvement following the intervention, we believe that RBC exchange transfusion could be considered in the management of beta thalassemia patients with significantly elevated levels of HbF.
Highlights
Thalassemia is a form of microcytic anemia where there is quantitatively decreased synthesis of structurally normal alpha or beta globin proteins
A separate vascular catheter was placed, for the purposes of exchange transfusion, and four units of donor-matched red blood cell (RBC) were transfused via automated exchange transfusion with subsequent hemoglobin electrophoresis showing hemoglobin F (HbF) 55%, hemoglobin A (HbA) 42%, and HbA2 3%
An increased incidence of cerebral thrombosis, venous thromboembolism, and pulmonary hypertension has been reported in beta thalassemia major and beta thalassemia intermedia following splenectomy, and these risks should be considered before splenectomy [6,7]
Summary
Thalassemia is a form of microcytic anemia where there is quantitatively decreased synthesis of structurally normal alpha or beta globin proteins. A 34-year-old male of mixed African American and Southeast Asian (Cambodian) descent presented to a regional hospital with progressive dyspnea on exertion He had a known history of beta thalassemia major (β0/β0) previously managed with splenectomy and jaw surgery due to extramedullary hematopoiesis. In the hospital course, the patient was transferred to our tertiary facility for management of acute hypoxemic, hypercapnic respiratory failure This presentation was complicated by cor pulmonale secondary, presumed to be secondary to beta thalassemia, and required prolonged high-pressure face mask ventilation. A separate vascular catheter was placed, for the purposes of exchange transfusion, and four units of donor-matched RBCs were transfused via automated exchange transfusion with subsequent hemoglobin electrophoresis showing HbF 55%, HbA 42%, and HbA2 3% Following this procedure, the patient clinically improved, coming off pressure-supported ventilation to high-flow nasal oxygen as well as milrinone, and was weaned to nasal cannula oxygen within one week. He was discharged with plans for monthly outpatient RBC exchange transfusions
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