From the Guidelines
Mediterranean anemia, also known as thalassemia, is an inherited blood disorder that requires treatment based on severity, with severe forms necessitating regular blood transfusions and iron chelation therapy to prevent iron overload and improve quality of life 1.
Overview of Mediterranean Anemia
Mediterranean anemia is characterized by reduced or abnormal production of hemoglobin, leading to anemia. The disorder results from mutations in genes that produce hemoglobin components, causing red blood cells to be smaller, paler, and shorter-lived than normal.
Treatment Options
Treatment depends on the severity of the condition, with mild forms (thalassemia minor) often requiring no treatment beyond occasional iron supplements. For moderate forms (thalassemia intermedia), patients may need periodic blood transfusions during times of stress, infection, or pregnancy.
- Severe forms (thalassemia major) require:
- Regular blood transfusions every 2-4 weeks
- Iron chelation therapy with medications like deferasirox (Exjade, Jadenu), deferiprone (Ferriprox), or deferoxamine (Desferal) to prevent iron overload
- Folic acid supplements (1 mg daily) are often recommended
- Bone marrow or stem cell transplantation offers the only potential cure but carries significant risks
Importance of Early Identification and Management
Early identification of cardiac iron overload is crucial, and cardiac T2* magnetic resonance is the most important predictor of development of heart failure 1. Serum ferritin and liver iron concentration are not adequate surrogates for cardiac iron measurement.
Management of Cardiac Iron Overload
Acute decompensated heart failure is a medical emergency and requires urgent consultation with a center with expertise in its management. The first principle of management of acute heart failure is control of cardiac toxicity related to free iron by urgent commencement of a continuous, uninterrupted infusion of high-dose intravenous deferoxamine, augmented by other iron chelators as needed 1.
Considerations for Comorbidities
TM patients with cardiac iron overload also have iron overload in many endocrine glands, and endocrine and metabolic deficiencies can mimic or exacerbate heart failure. Glucose control must be considered in acute and chronic heart failure management, ideally by the use of insulin infusions, with meticulous avoidance of hypoglycemia and hyperglycemia 1.
From the Research
Definition and Prevalence of Mediterranean Anemia
- Mediterranean anemia, also known as beta-thalassemia, is a genetic disorder that affects the production of the beta-globin chains of hemoglobin, leading to anemia and other complications 2, 3, 4, 5, 6.
- It is a significant global health problem, with a high prevalence in Mediterranean countries, Southeast Asia, and Africa 2, 5.
Clinical Manifestations and Diagnosis
- Beta-thalassemia can manifest in different forms, including thalassemia major, thalassemia intermedia, and thalassemia minor 4, 5.
- Thalassemia major is a severe form of the disease that requires regular blood transfusions for survival 2, 4, 5.
- Diagnosis can be made through prenatal testing, blood smear, complete blood count, and DNA analysis 4, 6.
Treatment and Management
- Treatment for thalassemia major includes regular blood transfusions, iron chelation therapy, and bone marrow transplantation 2, 4, 5.
- Iron chelation therapy is essential to prevent cardiac failure and other complications due to iron accumulation 2, 4.
- Other treatment options include hematopoietic stem cell transplantation, stimulation of fetal hemoglobin production, and gene therapy 4, 6.
Complications and Prognosis
- Complications of beta-thalassemia include bone marrow expansion, extramedullary hematopoiesis, and iron deposition in peripheral tissues 6.
- Life expectancy has improved dramatically over the past 50 years with increased availability of blood transfusions and iron chelation therapy 6.
- Genetic counseling and screening in high-risk populations can assist in reducing the prevalence of thalassemia 5, 6.