open access

Vol 4, No 2 (2013)
Case report
Published online: 2013-06-25
Get Citation

Diagnostic difficulties in a congenital hemolytic anemia

Ewa Mendek-Czajkowska, Justyna Spychalska, Krzysztof Warzocha
Hematologia 2013;4(2):179-183.

open access

Vol 4, No 2 (2013)
CASE REPORTS
Published online: 2013-06-25

Abstract

Difficulties encountered with making a diagnosis is described in a case study of a 20-year-old man
presenting with anaemia, fever, jaundice, lymphadenopathy and hepatosplenomegaly. The patient’s
medical records reveal that since early childhood, attempts had been made to resolve the reasons
behind a pre-existing anaemia and splenomegaly. However, after performing a complex series of
diagnostic tests, type II of congenital dyserythropoietic anemia (CDA) was finally diagnosed. This
accurate diagnosis, thus enabled chelator therapy to be commenced so as to prevent the occurrence
of secondary haemochromatosis.

Abstract

Difficulties encountered with making a diagnosis is described in a case study of a 20-year-old man
presenting with anaemia, fever, jaundice, lymphadenopathy and hepatosplenomegaly. The patient’s
medical records reveal that since early childhood, attempts had been made to resolve the reasons
behind a pre-existing anaemia and splenomegaly. However, after performing a complex series of
diagnostic tests, type II of congenital dyserythropoietic anemia (CDA) was finally diagnosed. This
accurate diagnosis, thus enabled chelator therapy to be commenced so as to prevent the occurrence
of secondary haemochromatosis.
Get Citation

Keywords

congenital dyserythropoietic anemia, pathogenesis, clinical features, therapy

About this article
Title

Diagnostic difficulties in a congenital hemolytic anemia

Journal

Hematology in Clinical Practice

Issue

Vol 4, No 2 (2013)

Article type

Case report

Pages

179-183

Published online

2013-06-25

Bibliographic record

Hematologia 2013;4(2):179-183.

Keywords

congenital dyserythropoietic anemia
pathogenesis
clinical features
therapy

Authors

Ewa Mendek-Czajkowska
Justyna Spychalska
Krzysztof Warzocha

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