Children with haemoglobinopathies undergoing HSCT are not exposed to total body irradiation but have specific endocrine issues, especially pubertal and growth delay related to iron toxicity. Experience is growing in HSCT in patients with haemoglobinopathies worldwide, but data on endocrine late-effects is scanty.
Aims To evaluate the endocrine late-effects seen in children with β-thalassaemia major(β-thal) and sickle cell disease(SCD) post-HSCT focusing on gonadal, growth and thyroid effects.
Methods A retrospective audit was undertaken of all NHS patients aged less than 18 years who underwent HSCT and late-effects follow up at our centre from January 2001 to December 2011. The data was collected from hospital and electronic records.
Results 46 post-HSCT patients were identified; 29 with β-thal and 17 with SCD amounting to a total of 232 follow-up years. One patient(SCD) died on day 20 post-HSCT. Male to female ratio was 0.84(21/25). Median age at transplant was 8.68 years(range 2.2–17.6 years). 41/45(91.1%) patients received busulphan and cyclophosphamide as part of their conditioning regime. The remaining 4 received a reduced intensity regime(fludarabine, treosulfan, thiotepa and thymoglobulin). These patients have been excluded from late-effect analysis.
Gonadotrophins were abnormally raised in 10/22(45.5%) females and 4/19(21.1%) males during post-HSCT follow-up. More females 9/16(56.3%) than males 1/10(10.0%) in the pubertal age group required either pubertal induction or sex steroid replacement. FSH(Mean 45.56U/L) was more elevated than LH(Mean 20.68U/L) in all 9 females, indicating ovarian damage. Estrogen was used for secondary amenorrhoea in 3 patients(all SCD).
Only 4/41(9.8%) patients had compensated hypothyroidism post-HSCT. None required treatment.
At least 2 points of growth data were available in 34/45 patients. SCD patients(mean height SDS-0.21) were taller than those with β-thal(mean height SDS-1.32) pre-HSCT. There was no significant change in height SDS during follow-up. Only 1 male(β−thal) had severe growth failure with a low IGF-1 but a normal GH stimulation test. He responded well to empirical GH.
Conclusion Hormonal evidence of gonadal failure is more common post-HSCT in females than males. Growth and thyroid adverse effects are rare. Children with haemoglobinopathy seem to have a decreased burden of endocrine late-effects post-HSCT compared with oncology patients.