An exceptional anaemia

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H. Kabboue, M. Al-Dulaimy, K.G. van der Hem

Woensdag 20 april 2016

15:10 - 15:20u in Zaal 0.4

Categorieën: Parallelsessie

Parallel sessie: Parallelsessie 3: Case reports/research

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A 19-year old Caucasian woman was recently referred to our outpatient clinic with anaemia. Her medical history reported an iron deficiency anaemia since 2010, suspected to be caused by menorrhagia. However, treatment with oral iron supplements was without response.

At referral, the patient presented with weariness and dizziness as a result of a low haemoglobin level of 6mmol/L. There was no pathological blood loss nor a family history with anaemia. Physical examination provided no diagnostics clues. Initial blood analysis showed a haemoglobin level of 6.1mmol/L with a mean cellular volume of 91, insufficiently elevated reticulocytes, elevated ferritin (209 ug/L) with otherwise normal iron studies and elevated bilirubin (40 µmol/l) with a normal haptoglobin level (0.73g/l). Abdominal ultrasound examination showed mild splenomegaly and cholecystolithiasis. This resulted in a differential diagnosis consisting of haemoglobinopathies, sideroblastic anaemia, hereditary spherocytosis and haemochromatosis. After additional examinations sideroblastic anaemia and other defects in erythropoiesis could not be excluded. Therefore, bone marrow examination was performed and showed a cellular pattern with > 10% of bi- and multinucleated erythroblasts, a diagnostic criterion for congenital dyserytropoetic anaemia type 2. Genetic analysis subsequently showed a mutation in the SEC23B-gene, confirming this diagnosis.

Congenital dyserythropoetic anaemia type 2, also known as HEMPAS, is a rare heterozygote hereditary anaemia. Patients have a normal life expectancy and are rarely transfusion dependent. They can profit from a splenectomy with afterwards a haemoglobin elevation of 0.5mmol/l and tend to develop haemochromatosis that should be treated to prevent complications.