Red cell enzyme disorders

All cells are dependent on enzymes to keep them healthy. Enzymes are like little motors that carry out the different jobs of the cells.

In red blood cells, if the components of these enzymes are mutated, the cells become vulnerable and fragile and can fall apart. This makes the red blood cell burst open in a process called haemolysis.

There are different types of red cell enzyme disorders such as pyruvate kinase deficiency, and G6PD deficiency which are the commonest, but there are many other types as well.

Most people with red cell enzyme disorders do not need blood transfusions (though some of them do). Some will need their spleen removed (splenectomy). Most will need to take regular folic acid and can become jaundiced when they are not well.

In general, this is a disease that comes and goes with some periods of anaemia and other periods of feeling well.