Page 310 - Essential Haematology

296 / Chapter 22 Aplastic anaemia and bone marrow failure

present. CDA1 is associated with somatic abnor- not the patient s serum. The basic lesion in HEMPAS
’

malities. It is caused by mutation of the gene is a mutation of the gene SEC23B at 20q coding
CDAN1 or chromosome 15q15 active during the S for a protein involved in synthesis of endoplasmic
phase of the cell cycle. Type II is known as HEMPAS, reticulum derived vesicles destined for the Golgi
h ereditary e rythroblast m ultinuclearity with a p osi- compartment. α - Interferon has induced remission
tive a cidifi ed s erum lysis test, with some sera but in some cases.

SUMMARY ■ Aplastic anaemia presents as pancytopenia ■ Red cell aplasia causes anaemia with

normal white cell and platelet counts. It
(subnormal haemoglobin, neutrophils and
may be transient, usually caused by
platelets) associated with a hypoplastic
parvovirus infection, or chronic. This may
bone marrow.
be congenital (Diamond – Blackfan) or

■ Aplastic anaemia may be congenital
acquired associated with, e.g. systemic
(Fanconi) or acquired (idiopathic or due to
lupus erythematosus, lymphoma or chronic
drugs, viral infection or toxins).
lymphocytic leukaemia.
■ Fanconi anaemia is autosomal recessive,

associated with congenital skeletal, skin or ■ Congenital dyserythropoietic anaemias are
renal abnormalities. It is caused by a group of rare inherited disorders of
inherited mutations of genes involved in erythropoiesis.
DNA repair.

■ Acquired aplastic anaemia is treated with
immunosuppressive drugs (e.g.
antilymphocyte globulin, ciclosporin or by
stem cell transplantation.
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