This section includes more information about rare anaemias, including links to information leaflets made for patients and families.

General information

About our service at UHBW

Congenital dyserythropoeitic anaemia (CDA)

• CDA type 1 information leaflets (CAN)

Pyruvate kinase deficiency

• PK deficiency information leaflet (CAN)
• Metabolic Support UK information page

Diamond Blackfan anaemia

• What is DBAS? Information poster (DBAS UK)

Hereditary spherocytosis and hereditary elliptocytosis

• Hereditary spherocytosis information leaflet

Hereditary Pyropoikilocytosis

• HPP information leaflet (CAN)

G6PD deficiency

• G6PD information leaflet
• G6PD deficiency information leaflet (CAN)
• G6PD Deficiency – UHBW Patient Information Leaflet

Congenital (X-linked) sideroblastic anaemia

• XLSA patient information

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.

• Exjade (deferasirox) handbook
• NHS Blood & Transplant – about blood transfusion

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.