Dyskeratosis congenita can cause problems with production of blood cells.
What is bone marrow?
Bone marrow is the place where blood cells are made.
‘Bone marrow failure’ occurs when the bone marrow doesn’t make enough blood cells to replace those that are used up. Bone marrow failure or insufficiency can occur in dyskeratosis congenita (and other telomere repair disorders).
What happens when insufficient blood cells are produced?
- Red blood cells. Insufficient red cells cause anaemia.
Mild anaemia is very common, especially in young women. Your doctor will ensure that any additional causes of anaemia are corrected.
Anaemia can cause fatigue, or if severe, shortness of breath, paleness of skin, and faintness.
- White blood cells are of several different types, which work together to prevent infection.
Severe reductions in white blood cells are associated with infections, which can sometimes be severe.
Platelets are essential for blood clotting.
Very low platelet numbers are associated with bruising, pinpoint rash which doesn’t disappear when pressed (‘purpura’) or bleeding.
Why does this happen?
Telomeropathies and effects on the Bone Marrow
Telomeres protect the ends of chromosomes. The name originates from the Greek telos (end) and meros (part).
Telomeres have been likened to the plastic caps that protect the ends of shoelaces to prevent them from fraying. If the telomere caps become too short, the cell dies. The protection provided by telomeres is vital during cell division, a stage of the ongoing process of cell replacement. Mutations in the genes responsible for maintaining healthy telomeres tend to produce more noticeable effects in groups of cells that normally undergo rapid division and replacement. This happens in the bone marrow where cells are constantly dividing to make and replace blood cells.
The effects on bone marrow can be extremely variable but can lead to reductions in the number of red blood cells (responsible for carrying oxygen around the body), white blood cells (important for fighting infection) and platelets (important for blood clotting). Telomeres in affected individuals can also be more sensitive to radiation (X-rays and CT scans), inflammation and some medical treatments.
You can find DC Action’s haematology ‘Cheat Sheet’ here: Haematology Aug 2023
You may find it useful to take this to your GP or specialist to help explain your symptoms.
http://Savage SA, Niewisch MR. Dyskeratosis Congenita and Related Telomere Biology Disorders. 2009 Nov 12 [Updated 2023 Jan 19]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK22301/