W318 beta 1-tubulin and macrothrombocytopenia

摘要

We would like to thank Dr White for valuable comments on our study that reported the first human beta 1-tubulin mutation associated with congenital macrothrombocytopenia. We have been working on congenital macrothrombocytopenia and analyzed more than 200 cases. We do not think that giant platelets from macrothrombocytopenia syndromes are necessarily larger than red blood cells. The mean platelet sizes determined as platelet diameters on peripheral blood smears in genetically confirmed Bemard-Soulier syndrome and MYH9 disorders were 5.3 (+- 1.1) pjn (n = 14) and 4.9 (+- 1.1) xm (n = 81), respectively. These data are comparable with that of the patient in our study.' Because routine automated blood cell counting systems differentiate blood cells by their size and therefore do not recognize giant platelets as platelets, mean platelet volume (MPV) does not reflect actual platelet size. As is quite often the case, an automated counter did not generate MPV in the patient or the mother. We believe that the determination of platelet diameter on peripheral smear is a more reliable way to detect macrothrombocytopenia.