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• W1995826147 abstract "Congenital thrombocytopenias, once considered rare and obscure, are now recognized with increasing frequency, because of the quantification of platelet number as a part of routine blood testing. Among class II non-muscle myosin heavy chains, II-A is the only gene found to be responsible for a human disease, called MYH9-related disease [1Marigo V. Nigro A. Pecci A. Montanaro D. Di Stazio M. Balduini C.L. Savoia A. Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains.Genomics. 2004; 83: 1125-33Crossref PubMed Scopus (65) Google Scholar]. It includes four autosomal dominant syndromes previously known as May–Hegglin anomaly, Sebastian, Fechtner and Epstein syndromes. Naina et al. [2Naina V.K.H. Nair S.C. Daniel D. George B. Chandy M. Asymptomatic constitutional macrothrombocytopenia among West Bengal blood donors.Am J Med. 2002; 112: 742-3Abstract Full Text Full Text PDF Scopus (22) Google Scholar] described a new syndrome, asymptomatic constitutional macro thrombocytopenia (ACMT) characterized by mild to severe thrombocytopenia, giant platelets [Mean platelet volume (MPV) >10 fL] with normal platelet functions without any bleeding symptoms in blood donors from West Bengal [2Naina V.K.H. Nair S.C. Daniel D. George B. Chandy M. Asymptomatic constitutional macrothrombocytopenia among West Bengal blood donors.Am J Med. 2002; 112: 742-3Abstract Full Text Full Text PDF Scopus (22) Google Scholar]. In order to avoid confusion between ACMT and congenital amegakaryocytic thrombocytopenia (CAMT) this entity is henceforth referred to as Harris syndrome. A prospective study was conducted over 8 months at the Christian Medical College and Hospital, Vellore, to determine the geographic distribution of Harris syndrome in India and neighboring countries. Of the 10 200 blood donors screened over a period of 8 months; 1002 were randomly screened for Harris syndrome. Nine hundred and thirty-one blood donors were residents of India, and remaining 71 were from Nepal, Bhutan and Bangladesh. All donors were questioned about history of abnormal bleeding episodes. Blood samples were collected in ethylenediaminetetraaccetic acid (EDTA). Automated platelet counts were performed using a Coulter STKS (Coulter, Hialeah, Florida) within 2 h of collection. Peripheral blood smears were examined to confirm the thrombocytopenia and presence of giant platelets. A total of 10 random affected samples (five moderate thrombocytopenia and five mild thrombocytopenia) were screened for mutations in the MYH9A gene (May Hegglin gene) with denaturing high-performance liquid chromatography (dHPLC). All exons and flanking intronic regions were assayed and all abnormal dHPLC profiles were sequenced. There was no history of any abnormal bleeding episode in any of the donors. A peripheral blood smear confirmed the diagnosis of thrombocytopenia and giant platelets. There were no abnormal inclusion bodies in the leukocytes. Thrombocytopenia was graded as mild (100–150 × 109 L−1), moderate (50–100 × 109 L−1) and severe (<50 × 109 L−1). Results were divided into five groups based on the place of origin of each donor (southern India, northern India, western India, eastern India and neighboring countries; Table 1). The distribution of Harris syndrome is shown in Fig. 1. There was a statistically significant difference in platelet count (P < 0.000) and mean platelet volume P < 0.000) between eastern states and all other states. We detected six abnormal profiles, all of which were single-nucleotide polymorphisms (SNPs) represented in the control population. Preliminary family studies have shown possible autosomal dominant mode of inheritance. In conclusion, MYH9A was not mutated in these samples and another gene with a probable similar function is the likely causative factor. Further genetic and molecular studies should yield a new insight into the pathogenesis of the disease.Table 1Harris syndrome: severity and geographical distribution based on regionsRegionEastern IndiaNorthern IndiaWestern IndiaSouthern IndiaNeighboring countriesn (%)390 (39)132 (13)141 (14)268 (27)71 (7)Mean platelet volume (fL; mean ± SD)10.7 ± 2.19.3 + 2.28 + 1.67.6 + 1.19.2 + 2Mean platelet count (×109 L−1; mean ± SD)213 ± 59213 ± 81263 ± 81250 ± 66211 ± 68Severe (<50 × 109 L−1) [n (%)]2 (0.5)0000Moderate (50–100 × 109 L−1) [n (%)]31 (8)0000Mild (100–150 × 109 L−1) [n (%)]103 (26)24 (18)12 (8.5)12 (4.5)6 (8.5)Normal (>150 × 109 L−1) [n (%)]254 (65)108 (82)129 (91)256 (95.5)65 (91.5) Open table in a new tab We are indebted to Sarah Beatty for her laboratory assistance." @default.
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• W1995826147 date "2005-11-01" @default.
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• W1995826147 title "Harris syndrome – a geographic perspective" @default.
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• W1995826147 doi "https://doi.org/10.1111/j.1538-7836.2005.01601.x" @default.
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