The diagnostic challenge of congenital dyserythropoietic anaemia: two cases of 'CDA type II'.

Abstract:

:The congenital dyserythropoietic anaemias (CDAs) are a group of rare hereditary disorders characterised by ineffective erythropoiesis and morphological abnormalities in the erythroblasts. Patients may present with jaundice or with symptoms of anaemia, gall stones or iron overload. The diagnosis can be challenging and cases have been confused with haemolytic anaemia, haemochromatosis or a haemoglobinopathy. A delayed diagnosis can lead to inappropriate treatment or delayed management of iron overload. We present two patients previously diagnosed as CDA type II in whom the diagnosis was revised to CDA type I and to hereditary spherocytosis. The conditions are compared and the approach to diagnosis is discussed.

journal_name

J Clin Pathol

authors

Dukka S,King MJ,Hill QA

doi

10.1136/jclinpath-2013-201779

subject

Has Abstract

pub_date

2014-04-01 00:00:00

pages

367-9

issue

4

eissn

0021-9746

issn

1472-4146

pii

jclinpath-2013-201779

journal_volume

67

pub_type

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