Other red cell disorders: enzyme e.g. G6PD and membrane disorders e.g hereditary spherocytosis
What is a red cell?
Red Cells contain haemoglobin, the oxygen and iron containing molecule. They are made in the bone marrow and circulate around the body in the blood delivering oxygen to all parts of the body. The red cell has a coating known as a membrane and chemicals known as enzymes (e.g. G6PD) to keep it healthy and the haemoglobin inside it, safe.
What is a red cell disorder?
There are many disorders that can be inherited or acquired (develop later in life). Most these disorders result in anaemia (a low blood count) and jaundice (a yellow tinge to the eyes and skin) as the red cells become more fragile and break in the circulation. These disorders can be episodic (problems only happen from time to time) or chronic(ongoing problems) and may also be very mild to very severe in their effect on the person. Red cell disorders are usually due to problems with one of three components of the red cell: the membrane (membrane disorders e.g. hereditary spherocytosis); the enzymes (enzymopathies e.g. G6PD deficiency) and the haemoglobin (haemoglobinopathies e.g. sickle cell disease and thalassaemia). It is now possible to diagnose most of the conditions genetically. This allows for diagnosis when the patient has been transfused and also to determine carrier state in siblings or determine whether the foetus is affected in early pregnancy.
Sometimes it is because of an antibody that attacks and destroys the red cell, these are known as immune haemolytic anaemias and often happen later in life and are not inherited.
What can Dr Trompeter offer?
Working closely with specialised laboratories, Dr Trompeter can:
- make the appropriate diagnosis of such disorders e.g. G6PD deficiency
- recommend and initiate treatment where necessary
- monitor the effects of the treatment
- monitor the condition on a regular basis including coexisting iron overload if present
- genetic diagnosis