Tatti V, Marfurt P, Sirchia G, Pescia G, Luscieti P, Losa G
Schweiz Med Wochenschr. 1984 Feb 11;114(6):196-204.
The case histories of three patients with hematologic disorders are reviewed. The patients are members of the same family composed of three brothers and two sisters. Two have osteomyelofibrosis and one essential thrombocythemia. Hematologic, enzymatic, cytogenetic, immunocytologic and immunogenetic investigations allow the following conclusions: - all the 5 siblings have identical blood group and rhesus factor (0+); - there is an HLA identity in the 5 siblings characterized by the alleles: A2, A3, B5, B7 (w4, w6); - the white blood cell alkaline phosphatase is not increased; - no monoclonality can be shown; - the chromosome Ph 1 is absent. In the second (osteomyelofibrosis) and third (essential thrombocythemia) patient an additional chromosome has been found, while the caryotype of the other three siblings, including the first patient with osteomyelofibrosis, is normal.
回顾了三名血液系统疾病患者的病历。这些患者是一个由三兄弟和两姐妹组成的家庭的成员。其中两人患有骨髓纤维化,一人患有原发性血小板增多症。血液学、酶学、细胞遗传学、免疫细胞学和免疫遗传学研究得出以下结论:- 所有5名兄弟姐妹具有相同的血型和恒河猴因子(O+);- 5名兄弟姐妹中存在HLA同一性,其特征为等位基因:A2、A3、B5、B7(w4、w6);- 白细胞碱性磷酸酶未升高;- 未显示单克隆性;- 不存在1号费城染色体。在第二名(骨髓纤维化)和第三名(原发性血小板增多症)患者中发现了一条额外的染色体,而其他三名兄弟姐妹,包括第一名骨髓纤维化患者的核型是正常的。