Smith C M, Nesbit M E, McKenna R, Krivit W, Hedlund B
Am J Pediatr Hematol Oncol. 1979 Winter;1(4):291-9.
A newborn infant presented with hepatosplenomegaly, rash, anemia, and leukocytosis at one day of age and manifested characteristic myeloid metaplasia by one mouth of life. Vitamin B12 and leukocyte alkaline phosphatase were elevated and platelet aggregation was impaired. Myelofibrosis was not present and neutrophil function was preserved. An unidentified high isoelectric point hemoglobin with unusual chromatographic and electrophoretic behaviors was found to comprise 12% of the total hemoglobin. The myeloid metaplasia and mutant hemoglobin disappeared over the subsequent months without biochemical or clinical residual. The available evidence was consistent with the mutant hemoglobin representing either a gamma chain or clonal embryonic chain variant. The inability to clarify prognostic factors in these unusual myeloproliferative syndromes suggests caution in the initiation of cytotoxic therapy.
一名新生儿在出生一天时出现肝脾肿大、皮疹、贫血和白细胞增多，并在出生一个月时表现出特征性的髓外造血。维生素B12和白细胞碱性磷酸酶升高，血小板聚集受损。不存在骨髓纤维化，中性粒细胞功能得以保留。发现一种具有异常色谱和电泳行为的未鉴定的高异电点血红蛋白占总血红蛋白的12%。在随后的几个月里，髓外造血和突变血红蛋白消失，没有生化或临床后遗症。现有证据与突变血红蛋白代表γ链或克隆性胚胎链变体一致。在这些不寻常的骨髓增殖性综合征中无法明确预后因素，提示在启动细胞毒性治疗时应谨慎。
