Point mutation in the beta-globin gene==> reduced or even absent at all beta-globin chain.
Blood smear: target cells, anisopoikilocytosis; hypochromic, microcytic erythrocytes.
2 variants:
1) minor ( heterozygous ) : mild anemia, decreased MCV
2) major ( homozygous ): severe hemolytic anemia, decreased MCV, in infants; splenomegaly, bone abnormalities, hemosiderosis and => HF; increased Hb F.
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