3A60.1
category
Hereditary pure red cell aplasia
Definition
A condition caused by determinates arising during the antenatal period, leading to a change in the formation of erythrocytes. This condition is characterised by maturation arrest occuring in the formation of erythrocytes. This condition may present with severe anaemia. Confirmation is by identification of decreased red blood cell count in a blood sample.
Inclusions
- Blackfan-Diamond anaemia
Also indexed as
Aase syndromeAase-Smith 2 syndromeAase-Smith II syndromeBlackfan-Diamond anaemiaBlackfan-Diamond diseaseBlackfan-Diamond hypoplastic congenital anaemiaBlackfan-Diamond syndromeConstitutional pure red cell aplasiaFamilial hypoplastic anaemia with malformationsHereditary pure red cell aplasia