Congenital dyserythropoietic anaemia type II in a teenager presenting with severe anaemia.
BMJ Case Rep
; 16(2)2023 Feb 07.
Article
de En
| MEDLINE
| ID: mdl-36750299
ABSTRACT
Congenital dyserythropoietic anaemia (CDA) type II is a rare disease characterised by inefficient erythropoiesis and mononuclear cytopenia. Patients generally present with extravascular haemolytic anaemia, jaundice and splenomegaly. A female patient in her mid-teens presented with severe anaemia and abdominal distention. Medical history was significant for the diagnosis of ß-thalassaemia intermedia made in her infancy. However, subsequent investigations showed normal reticulocyte counts that were disproportionate to the severity of her anaemia and a negative ß-thalassemia mutation analysis, leading to concerns about a specific lineage disorder. A bone marrow trephine showed features typical of CDA type II-erythroid hyperplasia with multiple binucleate erythrocytes. CDA type II has often been mistaken for other congenital or acquired forms of anaemia; this case report intends to raise awareness among clinicians to consider CDA type II as a rare but possible cause of severe anaemia in a teenager with a previous presumptive diagnosis of ß-thalassaemia .
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Bêta-Thalassémie
/
Anémie dysérythropoïétique congénitale
Type d'étude:
Diagnostic_studies
Limites:
Adolescent
/
Female
/
Humans
Langue:
En
Journal:
BMJ Case Rep
Année:
2023
Type de document:
Article
Pays d'affiliation:
Inde