Haematology: Bone Marrow Failure Syndromes Flashcards
What is bone marrow failure also known as?
Aplastic anaemia
What is it characterised by?
A reduction or absence of all 3 main lineages in the bone marrow leading to peripheral blood pancytopenia
It can be inherited or…
Acquired
The acquired cases may be due to…
Viruses (hepatitis viruses)
Drugs - sulphonamides, chemotherapy
Toxins - benzene glue
Why are many cases labelled idiopathic?
Because cause cannot be identified
Can the condition be partial or complete?
Could be either
Can it start as failure of a single lineage and progress to all 3?
Yes
What is the clinical presentation?
Anaemia
Infection due to reduced WCC - especially neutrophils
Bruising and bleeding due to thrombocytopenia
What is the most common inherited form of aplastic anaemia?
Fanconi anaemia
Describe the inheritance pattern of Fanconi anaemia
Autosomal recessive
Mutation in one of the many FANC genes - most commonly FANCA
They play a role in DNA repair
The majority of children with Fanconi anaemia have congenital anomalies such as…
Short stature Abnormal radii and thumbs Renal malformations Microphthalmia Pigmented skin lesions
How may children with Fanconi anaemia present?
With one/more congenital abnormalities
Or signs/symptoms of bone marrow failure - usually not apparent until 5/6 years old
Do neonates with Fanconi anaemia have normal blood count?
Yes normally always
Diagnosed by demonstrating increased chromosomal breakage of peripheral blood lymphocytes
What are those with Fanconi anaemia at risk of?
Death from bone marrow failure
Transformation to ALL
How is Fanconi anaemia is treated?
BM transplant
