The natural history of severe anemia in cartilage-hair hypoplasia

Abstract excerpt

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...

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