DBA post-HCT screening recommendations
| Late effect/organ system . | Disease specific abnormality . | Recommendations . |
|---|---|---|
| Cancer screening | • Colon cancer • Osteogenic sarcoma | • Colonoscopies starting at 1 year after HCT and every 5 years if normali • Awareness and education of risk of osteogenic sarcoma • Patients with total-body irradiation or chest RT require screening mammography starting at age 25 or 8 years after radiation exposure (no later than 40 years)1 |
| Ophthalmological | • Cataracts | • Evaluation for vision changes/cataracts in patients pretreated with steroids |
| Endocrinology | • Iron overload depositing in endocrine organs | • Evaluation of all endocrine organs: growth hormone, TSH, free T4, diabetes screening, parathyroid, gonadal axis screening on an annual basis |
| Neurocognitive | • Impact on neurodevelopment and educational performance | • Screening for neurodevelopmental issues particularly in patients with craniofacial abnormalities |
| Iron overload | • Iron overload burden increased in DBA compared with rest of IBMFS | • T2-weighted MRI of the heart and liver • Monitor liver function testing and consider referral to hepatology if abnormal • Phlebotomizing per Table 1 |
| Bone mineral density | • Fractures/osteopenia secondary to steroid use | • Screening with DXA scan prior to HCT and every 2-3 years if abnormal post-HCT |
| Obstetrics | • Risk for premature delivery | • Discussion with obstetrician for pregnancy planning |
| Late effect/organ system . | Disease specific abnormality . | Recommendations . |
|---|---|---|
| Cancer screening | • Colon cancer • Osteogenic sarcoma | • Colonoscopies starting at 1 year after HCT and every 5 years if normali • Awareness and education of risk of osteogenic sarcoma • Patients with total-body irradiation or chest RT require screening mammography starting at age 25 or 8 years after radiation exposure (no later than 40 years)1 |
| Ophthalmological | • Cataracts | • Evaluation for vision changes/cataracts in patients pretreated with steroids |
| Endocrinology | • Iron overload depositing in endocrine organs | • Evaluation of all endocrine organs: growth hormone, TSH, free T4, diabetes screening, parathyroid, gonadal axis screening on an annual basis |
| Neurocognitive | • Impact on neurodevelopment and educational performance | • Screening for neurodevelopmental issues particularly in patients with craniofacial abnormalities |
| Iron overload | • Iron overload burden increased in DBA compared with rest of IBMFS | • T2-weighted MRI of the heart and liver • Monitor liver function testing and consider referral to hepatology if abnormal • Phlebotomizing per Table 1 |
| Bone mineral density | • Fractures/osteopenia secondary to steroid use | • Screening with DXA scan prior to HCT and every 2-3 years if abnormal post-HCT |
| Obstetrics | • Risk for premature delivery | • Discussion with obstetrician for pregnancy planning |
These recommendations have been adapted from published guidelines.1-4
DXA, dual energy X-ray absorptiometry analysis; MRI, magnetic resonance imaging; T4, thyroxine; TSH, thyroid stimulating hormone.
Lipton JM, Molmenti CL, Hussain M, et al. Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: preliminary recommendations from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer. 2021;68:e28984. doi:10.1002/pbc.28984.