Pharmacogenetic Study in Patients Received Iron Chelating Agent

Pharmacogenetic Study in Patients Received Iron Chelating Agent

To investigate effect of genetic variations on the toxicities and find optimal target population, the investigators planned to analyze the genetic polymorphisms of UDP-glucuronosyltransferase.

Transfusion-associated iron overload induces systemic toxicity. Recently, deferasirox, a convenient long acting oral agent, has been introduced in clinical practice with promising efficacy. However, some patients experience drug-related toxicities and cannot tolerate it. To investigate effect of genetic variations on the toxicities and find optimal target population, we planned to analyze the genetic polymorphisms of UDP-glucuronosyltransferase 1A (UGT1A) subfamily, multi-drug resistance-associated protein 2 (MRP2) and breast cancer resistance protein (BCRP) among pediatric patients received deferasirox.

Inclusion Criteria:

1. Patients who received deferasirox because of transfusion associated iron overload (Transfusion associated iron overload was defined as ferritin ≥ 1,000 ng/mL in patients who needed over 8 units of RBC transfusions per a year).
2. Patients with written informed consents

Exclusion Criteria:

Patients or parents refusal