title: Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatric Hematology, Oncology, and Stem Cell Transplantation, Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland. mervi.taskinen@hus.fi
authors.forename: Mervi
authors.initials: M
authors.lastname: Taskinen
authors.forename: Sanna
authors.initials: S
authors.lastname: Toiviainen-Salo
authors.forename: Jouko
authors.initials: J
authors.lastname: Lohi
authors.forename: Pentti
authors.initials: P
authors.lastname: Vuolukka
authors.forename: Michaela
authors.initials: M
authors.lastname: Gräsbeck
authors.forename: Outi
authors.initials: O
authors.lastname: Mäkitie
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000740:Anemia; D000741:Anemia, Aplastic / Q000150:complications / Q000175:diagnosis*; D002614:Chelating Agents / Q000494:pharmacology*; D002648:Child; D002675:Child, Preschool; D017707:Erythrocyte Transfusion; D005260:Female; D005387:Finland; D005838:Genotype; D006197:Hair / Q000002:abnormalities; D006627:Hirschsprung Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis*; D007501:Iron / Q000378:metabolism; D019190:Iron Overload; D008099:Liver / Q000378:metabolism; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000151:congenital* / Q000175:diagnosis; D000081207:Primary Immunodeficiency Diseases; D013997:Time Factors
chemical_list: D002614:Chelating Agents; D007501:Iron