The natural history of severe anemia in cartilage-hair hypoplasia

Am J Med Genet A. 2005 Sep 15;138(1):35-40. doi: 10.1002/ajmg.a.30902.


Anemia is seen in over 80% of patients with cartilage-hair hypoplasia (CHH). While this is usually mild and self-limited, some patients demonstrate a severe, persistent anemia resembling that seen in Diamond-Blackfan anemia (DBA). This paper examines the natural history of 12 patients with CHH and severe anemia. Phenotypic features and mutation data (where available) were reviewed, but no significant differences were found that predicted severe anemia. Severe anemia is estimated to occur in approximately 6% of CHH patients and is permanent in more than half of these patients. Thrombocytosis, though not previously reported in CHH, was noted in five patients, similar to that seen in DBA. The role of possible gene-gene and gene-environment interactions is discussed.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Adult
  • Anemia / pathology*
  • Bone and Bones / diagnostic imaging
  • Cartilage Diseases / pathology*
  • Child, Preschool
  • DNA Mutational Analysis
  • Endoribonucleases / genetics
  • Female
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Osteochondrodysplasias / pathology*
  • Point Mutation
  • Radiography


  • Endoribonucleases
  • mitochondrial RNA-processing endoribonuclease

Associated data

  • OMIM/250250