Also Known As:

What is Diamond-Blackfan Anaemia?

Diamond-Blackfan Anaemia is an inherited blood disorder that occurs when your bone marrow doesn’t make enough red blood cells. This leads to a lack of healthy red blood cells needed to carry adequate oxygen throughout the body.

Causes

Diamond-Blackfan Anaemia is caused by mutations in several genes, some of which have been identified and some of which have not. It is now widely accepted that DBA is a ribosomal protein disease. The disorder results from an intrinsic progenitor cell defect in which erythroid progenitors and precursors are highly sensitive to death by apoptosis (self-destruction).

Symptoms

The symptoms of Diamond-Blackfan Anaemia include:
•   Fast heartbeat (Tachycardia)
•   Fatigue
•   Heart murmur
•   Pale skin
•   Short height
•   Weak bones

Diagnosis & Treatment

Diamond-Blackfan Anaemia is diagnosed by a Doctor using a physical examination and blood tests.

Treatments can include steroids that can help produce more red blood cells, red blood cell transfusions and bone marrow transplants.

Additional Information

The majority of Diamond-Blackfan Anaemia cases are isolated, but about 45% of people inherit this condition from a parent.

Adults with the disease may have hormonal problems in later life, especially Adrenal Insufficiency, Hypogonadism and Hypoparathyroidism.

Also see: Anaemia