Abstract

EANDI EBERLE, Silvia Judith  and  FELIU TORRES, Aurora Silvia. Unstable hemoglobins. Acta bioquím. clín. latinoam. [online]. 2017, vol.51, n.3, pp.343-347. ISSN 0325-2957.

The structural hemoglobin variants mostly result from single amino-acid substitutions in globin chains. In many cases these are innocuous, but in others they may alter the stability or functional properties of hemoglobin, leading to clinical manifestations of variable severity. They represent a rare cause of congenital hemolytic anemia. Unstable hemoglobins cause alterations that reduce solubility, with increased tendency to Heinz Body formation, damaging red blood cell membrane and finally the premature destruction of red blood cells. Up to 150 unstable hemoglobins have been described; most of them cause chronic hemolytic anemia, aggravated by infections and or drugs. Diagnosis can be difficult, especially in non-splenectomized patients. Initially, identification requires a high degree of clinical suspicion, but due to the fact that basic laboratory tests might be inconclusive, molecular analysis is necessary for final confirmation.

Keywords : Unstable hemoglobins; Hemolytic anemia; Heinz body.