Abstract
It has previously been suggested that the non-deletion form of the alpha thalassaemia/mental retardation syndrome may be an X linked disorder. We describe four brothers with this syndrome in whom the diagnosis was first suspected because of their characteristic clinical features, although these varied somewhat from one sib to another. The diagnosis was confirmed in each case by showing Hb H inclusions in a proportion of their red blood cells. The identification of four similarly affected boys in this pedigree is consistent with an X linked pattern of inheritance. In support of this, very rare Hb H inclusions could be found in the red blood cells of the mother and one sister who both share some facial features with the affected boys and are presumably carriers of this disorder. This pedigree thus provides further evidence that this is an X linked syndrome and indicates the clinical and haematological variability that may exist even within a single affected family.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Jarman A. P., Nicholls R. D., Weatherall D. J., Clegg J. B., Higgs D. R. Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster. EMBO J. 1986 Aug;5(8):1857–1863. doi: 10.1002/j.1460-2075.1986.tb04437.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lauer J., Shen C. K., Maniatis T. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions. Cell. 1980 May;20(1):119–130. doi: 10.1016/0092-8674(80)90240-8. [DOI] [PubMed] [Google Scholar]
- Proudfoot N. J., Gil A., Maniatis T. The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene. Cell. 1982 Dec;31(3 Pt 2):553–563. doi: 10.1016/0092-8674(82)90311-7. [DOI] [PubMed] [Google Scholar]
- Wilkie A. O., Pembrey M. E., Gibbons R. J., Higgs D. R., Porteous M. E., Burn J., Winter R. M. The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance. J Med Genet. 1991 Oct;28(10):724–724. doi: 10.1136/jmg.28.10.724. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Wilkie A. O., Zeitlin H. C., Lindenbaum R. H., Buckle V. J., Fischel-Ghodsian N., Chui D. H., Gardner-Medwin D., MacGillivray M. H., Weatherall D. J., Higgs D. R. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. Am J Hum Genet. 1990 Jun;46(6):1127–1140. [PMC free article] [PubMed] [Google Scholar]