Overview
Homozygous beta thalassemia is a severe genetic disorder characterized by the complete absence of beta-globin chain synthesis, leading to severe anemia and requiring lifelong management including transfusion therapy and potentially hematopoietic stem cell transplantation. 1Diagnosis
Hemoglobin levels typically below 7 g/dL
Elevated HbA2 levels (>9%)
Bilirubin and lactate dehydrogenase levels often elevated
Bone marrow examination showing markedly reduced or absent erythropoiesis
Genetic testing confirming homozygous mutation in HBB geneManagement
Regular red blood cell transfusions to maintain hemoglobin levels
Iron chelation therapy (e.g., deferoxamine, deferiprone, deferasirox) to manage iron overload
Splenectomy in cases of hypersplenism
Hematopoietic stem cell transplantation (HSCT) considered curative when a suitable donor is available 1Special Populations
Pregnancy: Limited data; close monitoring of transfusion needs and iron overload management required 1
Pediatrics: Early initiation of HSCT may improve outcomes 1
Elderly: Considerations for comorbidities and transplant eligibility; individualized treatment plans essential 1
Comorbidities: Management of complications like heart disease may necessitate combined organ transplantation (e.g., liver and heart) in selected cases 1Key Recommendations
Consider hematopoietic stem cell transplantation (HSCT) as a curative option in eligible patients (Evidence: Expert opinion) 1
Preserve inferior vena caval flow during combined liver and heart transplantation to minimize cardiopulmonary bypass duration (Evidence: Weak) 1
Regularly monitor and manage iron overload with chelation therapy in transfusion-dependent patients (Evidence: Moderate) 1References
1 Detry O, Honoré P, Meurisse M, Defraigne JO, Defechereux T, Sakalihasan N et al.. Advantages of inferior vena caval flow preservation in combined transplantation of the liver and heart. Transplant international : official journal of the European Society for Organ Transplantation 1997. link