Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemia.

AIM: To conduct a retrospective case analysis of the clinical efficacy and adverse effects of deferiprone in our population. METHODS: All patients with transfusion-dependent thalassaemia at KK Hospital who have been on deferiprone were included in the study. Outcomes measured include the change in ferritin levels and cardiac T2* values during deferiprone therapy, and incidence of side effects. RESULTS: Thirty-three (47.1%) of the total cohort of 70 patients have been on deferiprone, out of which 26 were on combination therapy with desferrioxamine. Majority of the patients (76%) had stable cardiac iron load during deferiprone therapy, and four patients with moderate to severe cardiac iron load showed improvement. Ten patients (30.3%) had improvement in their ferritin levels. Three patients (9.1%) developed mild neutropenia at 3, 18 and 26 months, respectively, and two patients (6.1%) had agranulocytosis at 4 and 10 months, respectively. Their neutrophil counts improved spontaneously after cessation of deferiprone. Thrombocytopenia developed in 27.3% of the patients and was transient in majority (77.8%) of the patients. Five patients (15.2%) developed arthritis that improved after cessation of deferiprone therapy, and one patient had transient arthralgia that resolved spontaneously. Three patients (9.1%) had nausea and abdominal pain. CONCLUSION: Deferiprone effectively reduced or stabilised cardiac iron load in our patients. Thrombocytopenia, arthropathy, neutropenia and agranulocytosis are the most important side effects. It is recommended that patients on deferiprone have their full blood counts monitored weekly for the first year of therapy and subsequently fortnightly as long as they are on deferiprone.

Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation. Our patient had craniosynostosis, anorectal malformation and short stature, but did not have the microtia or patella hypoplasia. Our report also highlights the value of WES in aiding diagnosis of patients with rare genetic diseases. In conclusion, our case report and review of the literature illustrates the unique features of CDC45-related MGS as well as the benefits of WES in reducing the diagnostic odyssey for patients with rare genetic disorders.