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The thalassaemias are characterised by quantitative aberrations in the production of the globin chains that make up haemoglobin, and are a subgroup of the haemoglobinopathies. In this LabQuiz we show how thalassaemia carrier status can be indicated in the results of regular laboratory tests, and discuss the laboratory diagnostics that can confirm or rule out thalassaemia. In these two cases we will present a man of Moroccan descent, and two brothers of Filipino descent, all with anaemia and microcytosis. We show it is possible to differentiate between iron-deficiency anaemia and thalassaemia carrier status on the basis of a complete blood count and measurement of ferritin levels, and which laboratory diagnostics can be subsequently performed in order to confirm a suspicion of thalassaemia. The background section discusses the properties and pitfalls of routine laboratory diagnostics for the thalassaemias, and thalassaemia diagnostics in the Dutch newborn screening programme.

(Recurrent) pneumothorax developed spontaneously in three women aged 33, 35 and 36 years, two of whom were pregnant. Morbid-anatomical examination of lung biopsy samples in two of them revealed proliferation of smooth muscle cells which through infiltration of pleura, septa, and alveoli had led to loss of pulmonary parenchyma and formation of cystic lesions; the cystic lesions were visible in a CT scan in all three patients. The diagnosis in 2 patients was 'lymphangioleiomyomatosis'; the third patient had anomalies compatible with lymphangioleiomyomatosis, but these were interpreted as tuberous sclerosis because of the presence of renal angiomyolipomas. This disorder occurs exclusively in women in the reproductive age. Treatment consisted in drainage of the pneumothorax, pleurodesis and pleurectomy, with administration of medroxy-progesterone. One year later, the pneumothorax had not recurred.