Thalassemia syndromes are hereditary microcytic anemias that result from mutations that quantitatively reduce globin synthesis.
Normal hemoglobin (Hb) is a tetramer of 2 α and 2 β cha...
Severe α-thalassemia (4 gene deletion) presents prenatally by ultrasound or at birth with hydrops fetalis and severe anemia.
Severe β-thalassemia usually presents between 3 and 12 mont...
Silent carriers (single α gene deletion) and α- and β-thalassemia trait
Genetic counseling only
Distinguish from iron deficiency microcytosis to avoid excess iron supplementation
For HbH diseas...
Serum ferritin and liver function tests should be monitored.
Close monitoring of kidney function is necessary as some chelating agents a...
de Dreuzy E, Bhukhai K, Leboulch P, et al. Current and future alternative therapies for beta-thalassemia major. Biomed J. 2016;39(1):24–38. [View Abstract on OvidInsights]
282.40 Thalassemia, unspecified
282.43 Alpha thalassemia
282.44 Beta thalassemia
D56.9 Thalassemia, unspecified
D56.0 Alpha thalassemia
D56.1 Beta thalassemia
40108008 Thalassemia (diso...
Q: Is prenatal testing available?
Q: In a transfused patient, when does iron overload become a problem and when is chelation started?
A: Usually after the age of 3 to 4 years
Q: At what age sh...
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