Abstract
A Saudi Arab boy presented in early childhood with thrombocytopenia, morphologically large and normal sized platelets, increased mean platelet volume, and a hypermegakaryocytic bone marrow. There was no clinical and laboratory evidence of any significant immunological abnormalities. Similar findings in two other brothers suggested strongly that they were all suffering from an X linked recessive thrombocytopenic disorder. Results of DNA analysis with the probe M27 beta are consistent with X linkage and indicate also that the locus of the relevant gene lies close to or is identical to the locus of the gene for the Wiskott-Aldrich syndrome (WAS). Because of various features which include the presence of large and normal sized platelets (rather than small platelets) and freedom from significant immune deficiencies, it is likely that the X linked recessive thrombocytopenia in this family is an isolated entity quite distinct from the classical WAS phenotype. However, a modified expression of the WAS gene producing a mild phenotypic variant cannot be excluded entirely.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Chiaro J. J., Dharmkrong-at A., Bloom G. E. X-linked thrombocytopenic purpura. I. Clinical and genetic studies of a kindred. Am J Dis Child. 1972 Jun;123(6):565–568. doi: 10.1001/archpedi.1972.02110120089008. [DOI] [PubMed] [Google Scholar]
- Donnér M., Schwartz M., Carlsson K. U., Holmberg L. Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. Blood. 1988 Dec;72(6):1849–1853. [PubMed] [Google Scholar]
- Greer W. L., Mahtani M. M., Kwong P. C., Rubin L. A., Peacocke M., Willard H. F., Siminovitch K. A. Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction. Hum Genet. 1989 Oct;83(3):227–230. doi: 10.1007/BF00285161. [DOI] [PubMed] [Google Scholar]
- Kwan S. P., Lehner T., Hagemann T., Lu B., Blaese M., Ochs H., Wedgwood R., Ott J., Craig I. W., Rosen F. S. Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3. Genomics. 1991 May;10(1):29–33. doi: 10.1016/0888-7543(91)90480-3. [DOI] [PubMed] [Google Scholar]
- Notarangelo L. D., Parolini O., Faustini R., Porteri V., Albertini A., Ugazio A. G. Presentation of Wiskott Aldrich syndrome as isolated thrombocytopenia. Blood. 1991 Mar 1;77(5):1125–1126. [PubMed] [Google Scholar]
- Peacocke M., Siminovitch K. A. Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome. Proc Natl Acad Sci U S A. 1987 May;84(10):3430–3433. doi: 10.1073/pnas.84.10.3430. [DOI] [PMC free article] [PubMed] [Google Scholar]