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X-linked lymphoproliferative disease is characterized by immune deficiency, particularly to the Epstein-Barr virus and by a tendency to develop fatal infectious mononucleosis, acquired hypogammaglobulinaemia or malignant lymphoma. This disorder has been diagnosed in three boys, two brothers and a maternally related cousin, residing in Australia. The proband presented at 6 years of age with fulminating infectious mononucleosis. His 9 year old male cousin had developed an ileal Burkitt lymphoma one year earlier. Immunological and molecular genetic evidence is presented to support our view that his younger sibling is also affected with this condition. DNA linkage studies using probes to DXS10 and DXS37 provide confirmatory evidence for the diagnosis in the proband's brother and information on carrier status in female family members.

The effect of iron chelation using subcutaneous desferrioxamine on the iron-overloaded heart was studied prospectively over 4 years in 23 asymptomatic patients (mean age 13.2 +/- 5.3 years) with thalassaemia major and transfusion-dependent anaemia. The haemoglobin was maintained greater than 10 g/dl by transfusion and chelation therapy to achieve a negative iron balance. Chelation was closely supervised to ensure compliance. Despite an increase in calculated iron load due to transfusion from 34 +/- 27 g to 63 +/- 28 g, there was a sequential fall in serum ferritin levels from 3148 +/- 1956 ng/ml to 2228 +/- 1825 ng/ml (P less than 0.05). Abnormalities of left ventricular (LV) function, assessed by radionuclide angiography, were present at rest or during exercise in 18 of 23 patients (78%) prior to therapy. Normal LV function was restored in 11 of these 18 patients, five continuing to have abnormal function and two dying. There was a significant increase in resting LVEF from 50 +/- 8% to 57 +/- 6% (P less than 0.01). Peak exercise LVEF rose from 51 +/- 11% to 65 +/- 7% (P less than 0.001). We conclude that the common subclinical abnormalities of LV function induced by iron overload in unchelated patients with thalassaemia major can be reversed with long-term subcutaneous infusions of desferrioxamine.

We compared red cell exchange transfusions (RC Ex) on the Aminco Celltrifuge (continuous flow cell separator) with conventional transfusions in 17 patients aged between 7 and 24 years who have transfusion dependent homozygous beta-thalassaemia and two other patients with chronic transfusion dependent anaemias aged 20 and 22. We aimed to return the youngest cohort of cells ('Neocytes') from both donor blood and the patient and to discard older cells ('gerocytes'). Using RC Ex, red cell transfusion requirement was reduced by 30%, reducing significantly the iron load, and the transfusion interval was increased by 43%. There is a great demand by the patients to continue this therapy as they have appreciated the immediate benefit of reduced hospitalization.