Aplastic Anaemia

Question 1

Definition of Aplastic Anaemia

Answer 1

Inability of BM to produce adequate blood cells

Haematopoeitic stem cell numbers reduced in BM trephines

Question 2

Clasifications of aplastic anaemia

Answer 2

Primary: Idiopathic 70%
Inherited 10%
Secondary: 10-15%
due to malginant infiltration, radiation, drugs

Question 3

Management of Aplastic Anaemia

Answer 3

Supportive: tranfusions, Abx, iron chelation

Drugs promoting BM

Question 4

Autosomal recessive
Pancytopenia
5-10 year olds
Skeletal abnormalities in radius and thumbs
Renal malformations, microopthalmia, short stature, skin pigmentation

Answer 4

Fanconi Anaemia
MDS 30%
AML risk 10%

Question 5

X Linked chromosome telomere shortening
Skin pigmentation
Nail distrophy
Oral leukoplakia
BM failure

Answer 5

Dyskeratosis Congenita

Question 6

Autosomal recessive.
Primary neutrophilia
Skeletal abnormalities, endocrine, pancreatic dysfunction, hepatic impairment, short stature

Answer 6

Schwachman Diamond syndrome

Question 7

Pure red cell aplasia
Normal WCC and platelets
Neonatal or 1 year old
Dysmorphology

Answer 7

Diamond-blackfan syndrome