Antoine N. Saliba, MD, and colleagues summarized current literature surrounding the frequent complications that bring patients with thalassemia into the ED.
In communities where consanguineous marriages are commonplace, nonsibling matched donor transplants may represent a viable option in patients with beta-thalassemia.
Preliminary results suggest that CRISPR-Cas9 editing of BCL11A may benefit patients with sickle cell disease and β-thalassemia by potentially eliminating vaso-occlusive episodes or the need for transfusion.
Among patients with transfusion-dependent β-thalassemia, comorbidity and mortality rates remain high, suggesting an unmet need among patients.
The FDA has granted Orphan Drug designation to mitapivat (AG-348; Agios Pharmaceuticals) for the treatment of thalassemia.
Compared to invasive prenatal diagnosis, a noninvansive assay may be a viable alternative for genotyping a fetus in pregnancy at high-risk for β-thalassemia.
The FDA has approved a twice-a-day formulation of Ferriprox® (deferiprone; Chiesi) for the treatment of transfusional iron overload due to thalassemia syndromes when current chelation therapy is inadequate.
For patients with β-thalassemia who undergo HSCT, exposure to a normal microenvironment and the impairment of HSCs may be reversible in the presence of a normal microenvironment and in vivo protein restoration.
When compared with placebo, luspatercept increased the percentage of patients with transfusion-dependent beta-thalassemia who had a reduction in transfusion burden.
As the life expectancy for patients with beta thalassemia continues to increase, more and more patients are experiencing age-related complications.
Both event-free and overall survival at 3 years were 96% for patients with transfusion-dependent thalassemia who underwent transplant.
Hypothyroidism, hyperglycemia, and low adrenocorticotrophic hormone levels are associated with lower bone mass in patients with thalassemia major.
Iron chelation therapy with deferasirox and deferoxamine led to significant improvements in bone mineral density and serum ferritin levels.
Renal complications occur in more than half of patients with beta thalassemia, but research on their epidemiology and treatment is limited.
Red blood cell alloantibodies were detected more than 4 times as frequently with flow cytometry compared with direct Coombs test.
Lack of resources and poor awareness of thalassemia can make it difficult for patients with beta thalassemia to receive necessary blood transfusions.
Recurrent headache was reported by 61% of patients with thalassemia compared with 22.5% of healthy individuals in a control arm.
Allogeneic HSC gene therapy may be an alternative to transplantation for patients with transfusion-dependent thalassemia.
A high percentage of patients with beta thalassemia demonstrated an increase in hemoglobin levels after receiving luspatercept.
A new oral iron chelator, deferasirox, may confer long-term benefits to patients with beta thalassemia major.
Modern tools for measuring health-related quality of life may not capture symptoms unique to patients with nontransfusion-dependent thalassemia.
Patients with beta thalassemia major may be at higher risk for atrial fibrillation, creating a need for attentive clinical management.
Accessing peripheral blood as a graft source is easier and less invasive than accessing bone marrow.
Iron overload that persists after HSCT can cause long-term organ damage.
Mortality in beta-thalassemia has decreased due to medical advances, allowing physicians to observe and manage disease-related complications in adult patients.