BMJ Case Reports 2009; doi:10.1136/bcr.07.2008.0386
  • Rare disease

Late diagnosis of a rare disease

  1. Noha Mohamed El Hossainy
  1. Internal Medicine Department, Cairo University, Egypt
  1. Noha Mohamed El Hossainy, dr_noha2002{at}
  • Published 14 April 2009


Rare diseases may be misdiagnosed if laboratory investigations show a common diagnosis instead. This is the story of 24-year-old male patient misdiagnosed as a case of hereditary spherocytosis at the age of 10 years. He received regular blood transfusions. Thorough investigations revealed microcytic anaemia, with results for all hereditary and acquired causes of haemolytic anemia negative, iron overload in the liver, stunted growth, insulin-dependent diabetes mellitis, hypercellular bone marrow and marked depletion of its iron stores. The transferrin level was very low when repeatedly measured, making congenital atransferrinaemia the most acceptable diagnosis for this case with haemochromatosis. Congenital atransferrinaemia is a very rare disease, with few cases recorded worldwide. Most cases died at a young age if not treated properly. Our patient is still alive although only recently diagnosed. He is now undergoing treatment with plasma transfusion, iron-chelating therapy and antituberculous treatment for pulmonary and osteoarthritic tuberculosis.


  • Competing interests: none.

  • Patient consent: Patient/guardian consent was obtained for publication.

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