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The thalassemias constitute a group of inherited anemias characterized by defective hemoglobin synthesis, without obvious structural change in the preponderant type of circulating hemoglobin. Different defects in hemoglobin synthesis may be responsible in different families. The author delineates 11 varieties of thalassemia, and suggests that there may be more. Clinical severity ranges from increased red blood cell count and no clinical manifestations, to fetal death with hydrops. There is often an increase in minor hemoglobin components. The globin of normal hemoglobin, type A, contains two alpha and two beta chains, α2β2. Fetal (type F) and A2 hemoglobins, normal minor components, are similarly designated α2γ2 and α2δ2, and in some thalassemias, elevations of one or both may be found. In others there may be abnormal chain combinations, H (β4), Bart's (δ4), or Lepore (fusion or crossing-over of portions of β and δ chains).
While these syndromes are more common in Mediterranean
Best WR. The Thalassaemia Syndromes. JAMA. 1966;195(2):147. doi:10.1001/jama.1966.03100020135056
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