Abstract
In 1990 the existence of an X linked form of the alpha thalassaemia/mental retardation syndrome was postulated after the description of six isolated cases who were all cytogenetically male. The segregation pattern in the family described here supports X linked inheritance. The clinical details of our two patients are remarkably similar to the previously delineated phenotype. In addition, renal anomalies were identified in one patient, but their significance will remain uncertain until further cases have been assessed. Affected subjects could be identified by the presence of Hb H inclusions, and were also noted to have abnormalities of several haematological indices. Examination of blood from obligatory carriers in this family suggests that Hb H inclusions are not an invariable finding and that haematological indices appear to be unaffected by the condition in female heterozygotes.
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- Chudley A. E., Lowry R. B., Hoar D. I. Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome. Am J Med Genet. 1988 Dec;31(4):741–751. doi: 10.1002/ajmg.1320310404. [DOI] [PubMed] [Google Scholar]
- Harvey M. P., Kearney A., Smith A., Trent R. J. Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male. J Med Genet. 1990 Sep;27(9):577–581. doi: 10.1136/jmg.27.9.577. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Holmes J., May A., Geddes D., Jacobs A. A family study of congenital X linked sideroblastic anaemia. J Med Genet. 1990 Jan;27(1):26–28. doi: 10.1136/jmg.27.1.26. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Peto T. E., Pippard M. J., Weatherall D. J. Iron overload in mild sideroblastic anaemias. Lancet. 1983 Feb 19;1(8321):375–378. doi: 10.1016/s0140-6736(83)91498-8. [DOI] [PubMed] [Google Scholar]
- Weatherall D. J., Higgs D. R., Bunch C., Old J. M., Hunt D. M., Pressley L., Clegg J. B., Bethlenfalvay N. C., Sjolin S., Koler R. D. Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Engl J Med. 1981 Sep 10;305(11):607–612. doi: 10.1056/NEJM198109103051103. [DOI] [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]