Abstract
Transfusion dependent congenital sideroblastic anaemia occurred in infancy in two unrelated girls. One girl developed early organ failure which was not prevented by standard chelation treatment. The combination of modest iron burden and putative intrinsic mitochondrial dysfunction could have accounted for the clinical picture. The other girl remained well, receiving regular transfusion and standard chelation treatment. She had normal liver function and no other evidence of organ damage. The syndrome is unlikely to be due to extreme lyonisation in carriers of the usual X-linked condition. The contrasting clinical patterns seen in these two patients suggest that transfusion dependent congenital sideroblastic anaemia may comprise a heterogeneous group of disorders. It is suggested that such children be carefully monitored for evidence of increasing iron overload so that organ damage can be prevented.
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Selected References
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- Aoki Y. Multiple enzymatic defects in mitochondria in hematological cells of patients with primary sideroblastic anemia. J Clin Invest. 1980 Jul;66(1):43–49. doi: 10.1172/JCI109833. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cartwright G. E., Edwards C. Q., Skolnick M. H., Amos D. B. Association of HLA-linked hemochromatosis with idiopathic refractory sideroblastic anemia. J Clin Invest. 1980 May;65(5):989–992. doi: 10.1172/JCI109785. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Fosburg M. T., Nathan D. G. Treatment of Cooley's anemia. Blood. 1990 Aug 1;76(3):435–444. [PubMed] [Google Scholar]
- Robins-Browne R. M., Prpic J. K. Desferrioxamine and systemic yersiniosis. Lancet. 1983 Dec 10;2(8363):1372–1372. doi: 10.1016/s0140-6736(83)91136-4. [DOI] [PubMed] [Google Scholar]
- Weatherall D. J., Pembrey M. E., Hall E. G., Sanger R., Tippett P., Gavin J. Familial sideroblastic anaemia: problem of Xg and X chromosome inactivation. Lancet. 1970 Oct 10;2(7676):744–748. doi: 10.1016/s0140-6736(70)90221-7. [DOI] [PubMed] [Google Scholar]
- van Waveren Hogervorst G. D., van Roermund H. P., Snijders P. J. Hereditary sideroblastic anaemia and autosomal inheritance of erythrocyte dimorphism in a Dutch family. Eur J Haematol. 1987 May;38(5):405–409. doi: 10.1111/j.1600-0609.1987.tb01436.x. [DOI] [PubMed] [Google Scholar]