X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?
Haematological features are subtle and can be easily overlooked, and individual patients may not display all the abnormal features. X-linked ataxias are rare and incorrect genetic advice may be given if the diagnostic haematological features of X-linked sideroblastic anaemia are overlooked. Males with early onset ataxia should have a haematological evaluation including a blood film, with a bone marrow examination if abnormal blood count indices and measurement of FEP concentrations raise suspicion. The condition has parallels with Pearson's syndrome and Friedreich's ataxia. All three conditions are associated with mitochondrial iron handling defects and ataxia. The human ATP binding cassette gene (hABC7) is a candidate gene and requires further investigation.
Children with CH showed significantly earlier AR compared to normal British children. This showed significant negative correlation with BMI SDS at 10 years. AR in CH does not appear to be directly related to the initial severity of hypothyroidism or to treatment factors.