Additional Considerations

In addition to finding the best treatment course for children with DBA syndrome, it is important to optimize their growth and development. While children with DBA syndrome may be shorter than their peers, these children should still follow a growth curve and should be regularly monitored by their health team, including an endocrinologist. If necessary, to improve growth, a “steroid holiday” can be offered where patients stop steroids during puberty for 1-3 years to maximize growth. Growth hormone injections may be considered in children, usually during puberty or just before, and are not believed to increase cancer risk. Steroids may prevent growth hormone from working properly and therefore, the best candidates would be those not on steroid therapy.

In general, vaccinations are safe for patients with DBA syndrome. If the patient has a normal immune system and is not on high dose steroids, he or she should undergo a standard regimen of childhood immunizations, including live vaccines. Typically, patients who present with anemia prior to 6 months of age are treated with transfusions and steroid therapy is delayed until 1 year of age. Therefore, infants can safely receive all early immunizations without interruption. It is recommended to give the 12-month live vaccines (varicella [chickenpox] and MMR [measles, mumps, rubella]) at least 2-3 weeks before starting a steroid trial. DBA syndrome patients should also receive influenza (flu) vaccines every year. If steroids must be started sooner than 12 months of age, live vaccines can be held until the patient is on weaning doses of prednisone (less than 2 mg/kg or less than 20 mg for patients over 10 kg). In these patients, inactivated (not live) vaccines can be given; however, steroids may dampen the immune response to the vaccine and the patient may not receive the full effect of the vaccination.

Rarely, patients with DBA syndrome have an immune system component to their disease. These patients should work with their immunologist to determine the best course regarding vaccinations, but most patients can still receive inactivated vaccines. Patients with neutropenia can typically receive all vaccinations, including live vaccinations, but should follow the guidance of their doctors.

Although most patients with DBA syndrome are diagnosed early in life, DBA syndrome may not be diagnosed until adulthood in some individuals, particularly in family members. For those diagnosed in childhood, to avoid interruptions in treatment, transition to adult care should be carefully planned. A bone marrow biopsy may be recommended just before or upon transition to adult care to serve as a baseline for future comparison. Treatment of anemia, including transfusions and steroids, should be monitored closely and adjusted as needed. Some adults with DBA syndrome may require higher hemoglobin levels to function well on a regular basis and work. Chelation therapy may also require adjustments in dosing or it may be necessary to add a different chelator. Proper monitoring of iron overload remains crucial into adulthood and patients should have annual Ferriscans/T2* MRI scans. Specialists should be consulted to monitor therapy-related organ dysfunction such as thyroid problems, hypogonadism, and heart problems. Immunodeficiency has been reported in patients with DBA syndrome and should be monitored through blood work. DBA syndrome patients of all ages are at increased risk for cancers and should be screened early and regularly, as outlined in the Cancer Risk section.

Patients with DBA syndrome carry a 50% chance of passing down the disease to their children and the severity of the disease may vary. For example, the parent with DBA syndrome may be in remission, but the child of that individual may be transfusion dependent. DBA syndrome is not known to cause decreased fertility. Female patients should plan carefully for pregnancy if possible. Iron chelation should be optimized prior to pregnancy as these medications are usually contraindicated during pregnancy. Pregnancy complications, such as vascular-placental problems, may be more common in patients with DBA syndrome. Experts recommend that hemoglobin be maintained at 10.0 g/dL or greater during pregnancy and therefore, those on steroids may require transfusions during pregnancy.