The natural history of severe anemia in cartilage-hair hypoplasia.

  title={The natural history of severe anemia in cartilage-hair hypoplasia.},
  author={Marc S. Williams and Robert S. Ettinger and Pia Hermanns and Brendan Lee and G{\"o}ran U. Carlsson and Mervi Taskinen and Outi M{\"a}kitie},
  journal={American journal of medical genetics. Part A},
  volume={138 1},
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… CONTINUE READING