Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD.

Background: The flow cytometric dihydrorhodamine 123 (DHR) assay is used as a screening test for chronic granulomatous disease (CGD), but complete myeloperoxidase (MPO) deficiency can also lead to a strongly decreased DHR signal. Our aim was to devise simple laboratory methods to differentiate MPO deficiency (false positive for CGD) and NADPH oxidase abnormalities (true CGD).

Methods: We measured NADPH-oxidase and MPO activity in neutrophils from MPO-deficient patients, CGD patients, NADPH-oxidase-transfected K562 cells and cells with inhibited and substituted MPO.

Hereditary spherocytosis is more frequent than expected: what to tell the patient?

Modern double beam laser technique allows screening for hereditary spherocytosis in the course of routine hematology. An incidence of 1:150 men and 1:800 women has been determined. The anomaly is symptomless in the majority of the cases.

Demonstration and quantification of "hyperchromic" erythrocytes by haematological analysers. Application to screening for hereditary and acquired spherocytosis.

The double laser beam diffraction of spherized RBC used in the ADVIA 120 haematological analyser allows quantitation of cells aberrant not only by their volume but also by their haemoglobin concentration. The present investigation provides arguments for the identification of hyperchromic RBC as spherocytes, mainly the close relation between % hyperchromic cells and % lysed by the cryohaemolysis test. The percentage of hyperchromic erythrocytes may no longer be considered an instrumental artefact.

Growing significance of myeloperoxidase in non-infectious diseases.

Myeloperoxidase (MPO) is a glycoprotein released by activated polymorphonuclear neutrophils, which takes part in the defense of the organism through production of hypochlorous acid (HOCl), a potent oxidant. Since the discovery of MPO deficiency, initially regarded as rare and restricted to patients suffering from severe infections, MPO has attracted clinical attention. The development of new technologies allowing screening for this defect has permitted new advances in the comprehension of underlying mechanisms.