Thalassemia is an inherited disorder in which the body makes too little alpha or beta globin, the protein chains of hemoglobin, so red cells are small and short-lived. Severity ranges from a silent carrier state or mild trait to severe forms that need lifelong transfusions.
Key symptoms
- Often none in trait, with mild anemia found on routine labs
- Fatigue, pallor and slow growth in severe forms
- Yellow skin or eyes and dark urine
- Abdominal fullness from a large spleen
- Bone changes of the face and skull in untreated severe disease
What you find on exam
- Pallor and jaundice
- Enlarged spleen and liver
- Frontal bossing and prominent cheekbones in severe forms
- Delayed growth and puberty; bronze skin from iron overload
Tests
- Blood count: low MCV with a normal or high red cell count (Mentzer index under 13)
- Ferritin to rule out iron deficiency
- Hemoglobin electrophoresis: high HbA2 in beta thalassemia trait
- Alpha globin gene testing when electrophoresis is normal; smear with target cells
Treatment basics
- Trait: no treatment, avoid unneeded iron, offer genetic counseling
- Severe forms: regular red cell transfusions
- Iron chelation with deferasirox or deferoxamine
- Folic acid; luspatercept in selected adults with beta thalassemia
- Stem cell transplant or gene therapy as possible cures; splenectomy in selected cases
Red flags
- Severe anemia with breathlessness or heart failure
- Fever after splenectomy: risk of overwhelming infection
- Signs of iron overload: heart failure, arrhythmia, diabetes
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Sources: NCCPA PANCE Content Blueprint; NBOME COMLEX-USA clinical presentations; AAMC Core Entrustable Professional Activities (Core EPAs). Written by Making Synapses. Making Synapses is not affiliated with these organizations.