Inborn Haemolytic Anaemia with Heinz Bodies

Overview

The authors describe in an 8-year-old girl congenital haemolytic anaemia which was clinically characterizedby medium severe anaemia, splenomegaly and hyperbilirubinaemia. Comprehensive haematological examinationafter ruling out membranous, enzymopathic and autoimmune types of haemolytic anaemia, in 90% erythrocytesHeinz bodies were found. Unstable non-specified haemoglobin was confirmed by heat precipitation. On electrophoresisof haemoglobin on acetate cellulose a drop of HbA1 to 72.2%, an elevated level of HbF (17.0%) and HbA2(3.6%) as well as pathological haemoglobin probably of type D in 7.2% was found. As the parents and juniorbrother were in good health it is assumed that in the patient de novo congenital haemolytic anaemia is involved onthe basis of unstable haemoglobin. By splenectomy a satisfactory clinical effect was achieved - improvement ofanaemia, hyperbilirubinaemia. The further couse of the disease was complicated 2.5 years after splenectomy bya febrile infection with anaemisation. Etiologically parvovirus B19 was involved. The child is followed up ona long-term basis and during the subsequent 5 years no serious complications developed and the child developsadequately. During repeated examinations laboratory characteristics persist (unstable non-specific pathologicalhaemoglobin).

Key words:
congenital haemolytic anaemia, Heinz bodies, electrophoresis of haemoglobin, unstable haemoglobin,splenectomy, parvovirus B19