Vol 4, No 2 (2013)
Case report
Published online: 2013-06-25
Page views
1035
Article views/downloads
5458
Diagnostic difficulties in a congenital hemolytic anemia
Hematologia 2013;4(2):179-183.
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.
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.
Keywords: congenital dyserythropoietic anemiapathogenesisclinical featurestherapy
