Knox-Macaulay H H, Bashawri L, Davies K E
Department of Pathology, College of Medicine, King Faisal University, Dammam, Kingdom of Saudi Arabia.
J Med Genet. 1993 Nov;30(11):968-9. doi: 10.1136/jmg.30.11.968.
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.
一名沙特阿拉伯男孩在幼儿期出现血小板减少症，血小板形态上大小不一，既有大的也有正常大小的，平均血小板体积增加，骨髓中巨核细胞增多。没有任何明显免疫异常的临床和实验室证据。另外两个兄弟也有类似发现，强烈提示他们都患有X连锁隐性血小板减少症。用探针M27β进行DNA分析的结果与X连锁一致，也表明相关基因的位点与维斯科特-奥尔德里奇综合征（WAS）基因的位点相近或相同。由于存在大小不一（而非小的）血小板以及无明显免疫缺陷等多种特征，该家族中的X连锁隐性血小板减少症很可能是一个与经典WAS表型完全不同的独立病症。然而，也不能完全排除WAS基因的一种修饰表达产生轻度表型变异的可能性。
