Types of rare inherited anaemias:

• Diamond Blackfan anaemia (Congenital pure red cell aplasia)
• Deficiency of Adenosine deaminase 2 (DADA2)
• Congenital dyserythropoietic anaemia (CDA) Type I, Type II, Type III, Type IV, Type VI, Type other
• Congenital Sideroblastic anaemia
• Transfusion dependent membrane disorders eg Hereditary Spherocytosis
• Some types of G6PD deficiency
• Pyruvate Kinase Deficiency
• Glucose Phosphate Isomerase Deficiency
• Hexokinase Deficiency
• Unstable Haemoglobins
• Congenital Methaemoglobinaemia

Patients with rare inherited anaemia are a diverse group of patients and in addition to anaemia there may be other associated features e.g. growth and developmental delay, immunodeficiency.

For the patients who receive regular blood transfusions please refer to the previous sections under thalassaemia. Splenectomy is sometimes performed in individuals with transfusion dependent membrane and enzyme disorders, as this may ameliorate or significantly reduce the transfusion burden.

More information needed?

Contact our service or refer to the resources on rare inherited anaemias on the Homepage – Together We Can website.