This section includes more information about rare anaemias, including links to information leaflets made for patients and families.
General information
Here you will find information about the condition and our general service information leaflets.
Congenital dyserythropoeitic anaemia (CDA)
Pyruvate kinase deficiency
Diamond Blackfan anaemia
Hereditary spherocytosis and hereditary elliptocytosis
Hereditary Pyropoikilocytosis
G6PD deficiency
Congenital (X-linked) sideroblastic anaemia
Treatments
Blood transfusions are used in the management of some people with rare inherited anaemias. These are usually given at regular intervals (for example, every 4 weeks). People who don’t need regular transfusions may need blood transfusions when they are unwell, or their body is under stress for example during pregnancy.
Patients on regular blood transfusions will also likely need to be on medications called iron chelators which help to remove the extra iron in their body which comes from the blood transfusions.
Splenectomy (surgical removal of the spleen) is sometimes used if someone with inherited anaemias has a certain type of anaemia called haemolytic anaemia, where blood cells are destroyed inside the body before they should be. This results in a lower number of red cells than normal. Removing the spleen can be helpful to slow this down as red cells are destroyed in the spleen.
Folic acid is one of the building blocks of red cells. Most patients with haemolytic anaemias will be given folic acid to help them make more red cells to replace the ones that have been destroyed.
If you feel that any information is missing from this page, please submit this via the ‘contact us’ page and we will endeavour to include your suggested additions in our next update.