Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.

Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFE gene. Non-C282Y HH is a heterogeneous group accounting for 15% of HH in Northern Europe. Pathogenic mutations of the transferrin receptor 2 (TfR2) gene have been identified in 4 Italian pedigrees with the latter syndrome.

Therapeutic plasma exchange: an update from the Canadian Apheresis Group.

In 1997, the Canadian Apheresis Group reviewed data on 103,416 plasma exchange procedures that had been collected since 1980. Although the number of plasma exchanges gradually increased (from 3189 to 8208 per year), the pattern changed. In 1981, the five most frequent indications for plasma exchange resulted in 55% of all such procedures; by 1997, the five most frequent indications for plasma exchange resulted in 81.

Treatment of refractory solar urticaria with plasma exchange.

Background: Solar urticaria is a photodermatosis that can be very disabling for patients who are highly sensitive to light and can also be very resistant to therapy.

Objective: To correlate the results of serial phototesting in a patient with severe and refractory solar urticaria before and after treatment with plasma exchange.

Methods: Plasma exchange was performed five times over a period of 10 days.

The Canadian experience using plasma exchange for immune thrombocytopenic purpura. Canadian Apheresis Group.

The effect of plasma exchange (PE) for the treatment of acute immune thrombocytopenic purpura (ITP) was assessed both through an analysis of the use of PE for ITP in Canada from 1980 to 1997, and in a study of 23 patients with acute ITP. Thirteen of these 23 patients were treated by PE (10 were exchanged with albumin and three with FFP) plus prednisone and 10 were treated with prednisone alone. At the 6 month follow-up, 11 of 19 patients were considered complete responders and six were considered partial responders.

Laboratory abnormalities in thrombotic thrombocytopenic purpura. Canadian Apheresis Group.

Thrombotic thrombocytopenic purpura is an uncommon disorder that requires prompt recognition and intervention to prevent death. To date, information regarding the classic laboratory abnormalities in the disease has been derived from small numbers of patients whose laboratory tests have been done at many different sites. We report the laboratory findings in 135 patients who presented with thrombotic thrombocytopenic purpura to 17 Canadian centres.