Management of Thalassemia Major

Transfusion Considerations

• Baseline RBC antigen typing prior to treatment
• leukocyte poor, ABO/Rh matched blood
• antibody screen and CBC prior to each transfusion
• aim for pre-transfusion hematocrit of 30 and < 6 nRBCs
• follow total transfusion requirement.  More than 200 cc/kg/year or rapid increases may indicate the need for splenectomy or workup of other causes of increased blood volume or RBC destruction

Chelation

• Start when Fe/TIBC > 80% and desferal challenge shows a chelatable pool of iron
• 30-50 mg/kg SC over 8-12 hours, 7 days/wk optimal; 6 nights/wk practical
• aim for ferritin of 1000-1500 (at least < 2500) and [TIBC] - [Fe] about 50 to 150; should be drawn within one hour of completion of desferal infusion -- check q 3 months

Monitoring for Desferal Toxicity

• Annual hearing and ophtho exams
• Annual 24 hour urine for Ca/PO4; follow creatinine
• Check infusion sites for swelling, tenderness, erythema

Monitoring for Iron Overload

• Cardiac baseline at age 10, then q 2 years for a few years, then q year; EKG, Holter, echo, treadmill
• Endocrine evaluation prn
• monitor growth and puberty
• IV glucose tolerance test -- same schedule as cardiac
• yearly TFTs
• serum Ca, Mg, P, alk phos, vit D, PTH
• yearly bone age, knee films if delayed growth
• If unable to counter iron load with chelation therapy, consider erythrocytopheresis.

Infectious Disease Considerations

• All should get HepB immunizations -- document conversion
• Splenectomized patients: HIB, Pneumococcal, Meningococcal (boost recommended)
• Follow LFTs and Hep B, C status
• Consider HIV testing
• Increased risk of sinusitis, yersinia colitis

Genetic Counseling

• Should be provided
• Prenatal diagnosis is available