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Thalassemia
Thalassemias are a heterogenous group of genetic disorders of hemoglobin synthesis. They are characterized by a reduced rate of synthesis of one or more alpha/beta globin chains.
- epidemiology
- signs and symptoms
- types of thalassemia
- pathophysiology
- causes and risk factors
- treatments
- course
- patient education
- community resources
- references
Epidemiology
Thalassemias are the most common inherited abnormalities of hemoglobin.
Signs and Symptoms
- history
- physical exam
- lab investigations
History
Types of Thalassemia
Beta thalassemia
- major is severe, leading to dependence on transfusions
- intermedia causes moderate to severe anemia
- minor can cause asymptomatic or mild anemia
typically presents when fetal hemoglobin transitions to
Alpha thalassemia:
- hydrops fetalis (barts)
- hemogobin H
Can present in newborn period
Pathophysiology
Mutations can be in regulatory genes.
Precipitation of excess chains can cause hemolysis and ineffective erythropoiesis
There are two beta genes and four alpha genes.
Causes and Risk Factors
Beta thalassemia is most common in Mediterranian populations, while alpha thalassemia is most common in southeast Asian populations.
Treatments
Treat with frequent transfusions
Course
Patient Education
Community Resources