haemoglobin C ( HbC ) disease
Last reviewed 01/2018
- genetic defect of haemoglobin due to a substitution of lysine for glutamic acid in the ß-globin chain at position 6 (same point as substitution in HbS)
- frequent in West Africa
- HbC tends to form rhomboidal crystals
- in homozygotes - mild haemolytic anaemia with marked target cell formation, microspherocytes and cells with rhomboidal shape; splenomegaly
- in heterozygotes (carriers) - a few target cells only