Yoo D, Schechter G P, Amigable A N, Nienhuis A W
Cancer. 1980 Jan 1;45(1):78-83. doi: 10.1002/1097-0142(19800101)45:1<78::aid-cncr2820450114>3.0.co;2-n.
Hemoglobin H disease usually occurs as a result of inheritance of the genes for alpha thalassemia; however, occasionally patients acquire hemoglobin H in association with hematologic malignancy. This report concerns a 63-year-old Filipino man with a myeloproliferative syndrome with marked thrombocytosis and apparently acquired hemoglobulin H disease. The patient had hemolytic anemia, dimorphic red blood cells (RBC) and abundant ringed sideroblasts in the marrow. The peripheral blood contained 27% hemoglobin H and about two-thirds of his RBC had hemoglobin H inclusion bodies. There was no previous history of anemia or evidence of thalassemia in two siblings or nine adult children of the patient. In vitro studies of globin chain synthesis documented markedly decreased production of alpha globin with alpha/beta biosynthetic ratios of 0.05 in peripheral blood reticulocytes and 0.10 in bone marrow cells. The relative concentration of mRNA for alpha globin was approximately 20-fold less than that of beta globin, apparently accounting for the deficiency in alpha globin synthesis.
血红蛋白H病通常是由于α地中海贫血基因的遗传所致；然而，偶尔患者会在患有血液系统恶性肿瘤时出现血红蛋白H。本报告涉及一名63岁的菲律宾男子，他患有骨髓增殖综合征，伴有明显的血小板增多症，且显然患有后天性血红蛋白H病。该患者有溶血性贫血、双形红细胞（RBC）以及骨髓中大量环形铁粒幼细胞。外周血中血红蛋白H含量为27%，约三分之二的红细胞含有血红蛋白H包涵体。患者既往无贫血病史，其两个兄弟姐妹和九个成年子女也无地中海贫血证据。对珠蛋白链合成的体外研究表明，外周血网织红细胞中α珠蛋白的生成明显减少，α/β生物合成比率为0.05，骨髓细胞中为0.10。α珠蛋白mRNA的相对浓度比β珠蛋白约低20倍，这显然是α珠蛋白合成不足的原因。
