Hypoplastic Anemia in Cartilage-Hair Hypoplasia—Balancing between Iron Overload and Chelation - 25/03/13
, Sanna Toiviainen-Salo, MD, PhD 2, Jouko Lohi, MD, PhD 3, Pentti Vuolukka, MD 4, Michaela Gräsbeck, MD 5, Outi Mäkitie, MD, PhD 6, 7
Reprint requests: Mervi Taskinen, MD, PhD, Department of Pediatric Hematology, Oncology, and Stem Cell Transplantation, Children’s Hospital, Helsinki University Central Hospital, P.O. Box 281, FIN-00029 HUS, Helsinki, Finland.Abstract |
Objective |
To evaluate the severity of iron overload and the success of iron chelation therapy in patients with cartilage-hair hypoplasia (CHH) and hypoplastic anemia, with particular focus on adverse effects of iron chelators.
Study design |
Four of the 23 presently surviving Finnish patients with CHH under 18 years of age are dependent on regular red blood cell transfusions. Their hospital records were reviewed for history of anemia and chelation therapy. Cumulative iron load from transfusions was calculated. Efficacy of the chelation therapy was evaluated biochemically and by liver iron content assessments.
Results |
At the introduction of iron chelation, the patients had received on average 99 (37-151) transfusions; the mean cumulative iron overload was 4640 (800-8200) mg, the annual iron accumulation rate 0.35 (0.25-0.41) mg/kg/d, and the mean plasma ferritin was 2896 (1217-6240) μg/L. Liver iron content, determined by biopsy in 3 patients, was on average 20.0 (6.6-30.0) mg/g liver dry weight. All patients, except 1 with Hirschsprung disease, tolerated deferoxamine, deferiprone, and deferasirox therapy well, showing only mild adverse effects typical for the agents. Plasma ferritin levels and liver magnetic resonance imaging T2* of iron overload showed successful chelation.
Conclusion |
Iron chelation is well tolerated in patients with CHH, with possible exception of patients with Hirschsprung disease. Successful chelation will prepare for hematopoietic stem cell transplantation in patients with CHH with persistent transfusion dependency.
Il testo completo di questo articolo è disponibile in PDF.Keyword : ALAT, BM, CHH, GH, Hb, HSCT, LIC, MRI, RBC, RMRP
Mappa
| Supported by the Foundation for Pediatric Research (to O.M.), the Sigrid Juselius Foundation (to O.M.), the Academy of Finland (to O.M.), the Helsinki University Central Hospital Research Funds (to M.T. and O.M.), Folkhälsan Research Center, and the Nona and Kullervo Väre Foundation (to M.T.). The authors declare no conflicts of interest. |
Vol 162 - N° 4
P. 844-849 - Aprile 2013 Ritorno al numero
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