3A60.1
Hereditary pure red cell aplasia
Aplasia pura hereditária de células vermelhas
CategoryDefinition
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
Index Terms
Hereditary pure red cell aplasiaFamilial hypoplastic anaemia with malformationsConstitutional pure red cell aplasiaBlackfan-Diamond anaemiaBlackfan-Diamond syndromeAase syndromeBlackfan-Diamond diseaseBlackfan-Diamond hypoplastic congenital anaemiaAase-Smith 2 syndromeAase-Smith II syndrome