The natural history of severe anemia in cartilage-hair hypoplasia

Intermountain Health Care Clinical Genetics Institute, LDS Hospital, Salt Lake City, Utah 84103, USA.
American Journal of Medical Genetics Part A (Impact Factor: 2.16). 09/2005; 138(1):35-40. DOI: 10.1002/ajmg.a.30902
Source: PubMed


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.

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    • "Respiratory or general infections in infancy or early childhood recurred more frequently in 13 subjects, but were of no concern in 10 other patients. In Patient #27, a young infant, severe macrocytic anemia (''þþ'' in RBC column) had been diagnosed at 2 months of age (Patient #1 [Williams et al., 2005] "
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    ABSTRACT: Cartilage hair hypoplasia (CHH) or McKusick type metaphyseal chondrodysplasia (MCD) (OMIM # 250250) is due to either the homozygous or compound heterozygous mutations in the nuclear encoded, non-coding RNA gene RMRP. Twenty-seven CHH patients were referred for molecular evaluation of the clinical diagnosis. RMRP mutations were found in 22 patients. The phenotype in one of the five mutation-negative patients was fully congruent with the adopted case definition of CHH. In a second of these patients, the diagnosis of Schmid type MCD (OMIM # 156500) was made and confirmed by the detection of a mutation in the COL10A1 gene. The remaining patients most likely represent one or more MCDs hitherto not yet delineated. The pattern of cumulative growth in infancy and early childhood in the latter four patients was the single feature with greatest negative predictive power for CHH. Fourteen mutations detected here, had not been reported previously. In this ethnically heterogeneous population, we performed a retrospective study to compare the prevalence of clinical features compared to previous reports based mostly on more ethnically homogenous groups.
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  • No preview · Article · Sep 2005 · American Journal of Medical Genetics Part A
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