Hemoglobinopathies are inherited disorders in which hemoglobin production is altered as a result of quantitative or qualitative defects. Qualitative defects are usually due to point variants and are referred to as structural hemoglobinopathies. Some variants decrease the solubility of hemoglobin, and the precipitated hemoglobin decreases survival times of red blood cells (RBCs). These variants are referred to as unstable hemoglobins.
Last Update: July 2019