Abbondanzo S L, Anagnou N P, Sacher R A
Department of Pathology, Georgetown University Medical Center, Washington, D.C.
Am J Clin Pathol. 1988 Mar;89(3):401-6. doi: 10.1093/ajcp/89.3.401.
A 64-year-old man was found to have a hemolytic anemia with a hematocrit of 0.28 (28%) during a routine evaluation. One month before this his hematocrit had been normal. Further studies revealed a myelodysplastic syndrome and acquired hemoglobin H disease. Eighteen months later this transformed into acute megakaryoblastic leukemia with disappearance of hemoglobin H, and shortly thereafter he had myelofibrosis develop. Acquired hemoglobin H disease, which is an alpha-thalassemia-like syndrome, results in the formation of an unstable hemoglobin composed of beta chain tetramers. This condition has been associated with preleukemia, sickle cell anemia, and hematologic malignancies. Although idiopathic myelofibrosis also has been described as a setting in which this thalassemic syndrome occurs, the present case is unusual in that the myelofibrosis was preceded by refractory anemia with leukemic transformation.
一名64岁男性在常规检查中被发现患有溶血性贫血，血细胞比容为0.28（28%）。在此前一个月，他的血细胞比容还是正常的。进一步检查发现了骨髓增生异常综合征和获得性血红蛋白H病。18个月后，病情转变为急性巨核细胞白血病，血红蛋白H消失，此后不久又出现了骨髓纤维化。获得性血红蛋白H病是一种类似α地中海贫血的综合征，会导致由β链四聚体组成的不稳定血红蛋白的形成。这种情况与白血病前期、镰状细胞贫血和血液系统恶性肿瘤有关。虽然特发性骨髓纤维化也被描述为发生这种地中海贫血综合征的一种情况，但本病例不同寻常之处在于，骨髓纤维化之前有难治性贫血并伴有白血病转化。
