title: The natural history of severe anemia in cartilage-hair hypoplasia.
abstract: 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.
authors.affiliation: Intermountain Health Care Clinical Genetics Institute, LDS Hospital, Salt Lake City, Utah 84103, USA. marc.williams@ihc.com
authors.forename: Marc S
authors.initials: MS
authors.lastname: Williams
authors.forename: Robert S
authors.initials: RS
authors.lastname: Ettinger
authors.forename: Pia
authors.initials: P
authors.lastname: Hermanns
authors.forename: Brendan
authors.initials: B
authors.lastname: Lee
authors.forename: Göran
authors.initials: G
authors.lastname: Carlsson
authors.forename: Mervi
authors.initials: M
authors.lastname: Taskinen
authors.forename: Outi
authors.initials: O
authors.lastname: Mäkitie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000740:Anemia / Q000473:pathology*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002357:Cartilage Diseases / Q000473:pathology*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004722:Endoribonucleases / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000473:pathology*; D017354:Point Mutation; D011859:Radiography
chemical_list: D004722:Endoribonucleases; C058330:mitochondrial RNA-processing endoribonuclease