Aplastic anaemia Flashcards
What is aplastic anaemia
Pancytopenia with hypocellular bone marrow in the absence of an infiltrate (no tumor) and no increase in reticulin( shows no fibrosis)
Classification of aplastic anemia
Primary
Secondary
Primary aplastic anemia
Congenital or acquired
Secondary aplastic anemia
Occurs as a result of injury to blood stem cells
Pathogenesis of aplastic anemia
A problem with the hematopoietic stem cell that will cause it not to do its work.
Causes of congenital aplastic anemia
Fanconi anemia Dyskeratosis congenital Schwachman diamond syndrome Reticular dysgenesis Pearsons syndrome
Most common inherited aplastic anemia
Fanconi anemia
Method of inheritance of fanconi anemia
Autosomal recessive
Clinical features of fanconi anemia
Somatic abnormalities - horseshoe kidney, absent thumb, hypoplastic gonads
Progressive bone marrow failuire
Increased risk of malignancies
Diagnosis of fanconi anemia
Pancytopenia
Trephine biopsy
chromosomal fragility test
Gene deficiency in Dyskeratosis congenita
DKC1 gene
Method of inheritance of dyskeratosis congenita
X linked recessive disorder
Clinical features of dyskeratosis congenita
Muco cutaneous triad - abnormal skin pigmentation, nail dystrophy, mucosal leukoplakia
Non cutaneous abnormalities - developmental delay, pulmonary dx, early greying , deaf
Bone marrow failuire by 20
Management of dyskeratosis congenita
Androgens
HSCT
Method of inheritance in schwachmann diamond syndrome
Autosomal recessive disorder
