Red blood cell disorders

Red blood cells are the main components of blood and transport oxygen throughout the body. They consist of a membrane and mainly contain haemoglobin, as well as other components required for their proper functioning (enzymes, proteins, etc.). All of these components may be affected by a genetic (or hereditary) disease or an acquired disease (which develops during a person’s lifetime), such as an autoimmune disease.

These conditions include:

• Thalassaemia and other haemoglobin disorders.
• Hereditary spherocytosis and other membrane disorders (elliptocytosis, stomatocytosis).
• Enzyme deficiencies, such as G6PD deficiency or pyruvate kinase deficiency.
• Autoimmune haemolytic anaemia.

Other rarer diseases, such as congenital dyserythropoietic anaemia, are also treated in our department. These diseases result in anaemia of varying severity, which may require regular transfusions. Chronic destruction also affects the liver and iron metabolism.

As these various diseases have specific consequences and require specific management, the first step is to establish an accurate diagnosis.

To this end, our Haematology Department works closely with the Hospital’s Erythrocyte Chemistry, Genetics, Immunohaematology/Transfusion Laboratory.

Management consists of improving chronic anaemia and its consequences. This may require regular transfusions or medication aimed at increasing red blood cell production (erythropoietin) or reducing their destruction (immunosuppressants, targeted treatments).

Chronic destruction of red blood cells and the resulting anaemia, as well as transfusions, regularly lead to iron overload.

This overload causes liver damage, as well as damage to the organs responsible for hormonal regulation. It therefore requires specific monitoring and treatment (iron chelator).

As these diseases are most often transmitted genetically/inherited, it is important that patients and their families have access to a specific consultation known as genetic counselling.