Stuhrmann M, Bashawri L, Ahmed M A, Al-Awamy B H, Kühnau W, Schmidtke J, El-Harith E A
Institute of Human Genetics, Medical School Hannover, Carl-Neuberg Strasse 1, 30625 Hannover, Germany.
Br J Haematol. 2001 Mar;112(3):616-20. doi: 10.1046/j.1365-2141.2001.02565.x.
Familial thrombocytosis (FT) has previously been described as an autosomal-dominant disorder with manifestations similar to those of sporadic essential thrombocythaemia. We studied an Arab family consisting of four brothers, aged 4-8 years, who had either sustained markedly elevated (> 1000 x 109/l) or moderately elevated (> 500 x 109/l) platelet counts, two healthy sisters and their parents who had normal platelet counts. The four brothers with FT had normal plasma thrombopoietin levels and are currently not presenting with any thrombotic or haemorrhagic complications. Mutation analysis at the thrombopoietin gene (THPO) of the affected family members failed to detect the intron 3 G-->C splice mutation that had been described as causing FT. In addition, segregation analysis using a polymorphic CA marker revealed completely discordant THPO alleles among the affected brothers. We postulate the existence of a new locus for FT whereby the disease is transmitted as a recessive, possibly X-linked trait.
家族性血小板增多症（FT）先前被描述为一种常染色体显性疾病，其表现与散发性原发性血小板增多症相似。我们研究了一个阿拉伯家庭，该家庭由四名年龄在4至8岁的兄弟组成，他们的血小板计数持续显著升高（> 1000×10⁹/L）或中度升高（> 500×10⁹/L），还有两名健康的姐妹及其血小板计数正常的父母。四名患有FT的兄弟血浆血小板生成素水平正常，目前未出现任何血栓形成或出血并发症。对受影响家庭成员的血小板生成素基因（THPO）进行突变分析，未检测到曾被描述为导致FT的内含子3 G→C剪接突变。此外，使用多态性CA标记进行的分离分析显示，受影响的兄弟之间THPO等位基因完全不一致。我们推测存在一个新的FT基因座，该疾病以隐性方式遗传，可能是X连锁性状。
