Second Department of Pediatrics, "P. & A. Kyriakou" Children's Hospital, Medical School, Athens University, Athens, Greece,
Int J Hematol. 2013 Nov;98(5):563-8. doi: 10.1007/s12185-013-1451-4. Epub 2013 Oct 5.
Abnormal hemoglobin synthesis is usually inherited but may also arise as a secondary manifestation of a hematological neoplasia. The objective of this study is to identify the presence of acquired hemoglobinopathy in children diagnosed with hematological malignancies and compare these against healthy controls. Prospective matched case-control study held from 2010 to 2012. For each patient with hematological malignancy two healthy controls matched on gender, age and race were recruited. Patients with other co-morbidities were excluded. All samples underwent supravital staining and high-performance liquid chromatography (HPLC) electrophoresis. Following identification of abnormal results, molecular genetic testing for all α- and β-thalassemia mutations prevalent in the Greek population was performed. Other causes of anemia were ruled out based on specific testing. A total of 44 (32 males) patients with a mean age of 7.1 years were enrolled in the study. Hematological disorders included acute lymphocytic leukemia (24), acute myeloid leukemia (8), non-Hodgkin lymphoma (8), Hodgkin disease (3), and Langerhans cell histiocytosis (1). Following exclusion of congenital hemoglobinopathies, atypical HPLC electrophoretic findings persisted in 18.1 % of the patient group, compared to 0 % in the control group (p < 0.001). The patient group showed marked microcytic anemia (p < 0.01) and detection of small inclusions (p = 0.034) on supravital staining. Comparison of the HPLC findings between the groups demonstrated significantly lower percentages of HbA (p = 0.02), normal HbA2 and higher percentage of fast moving Hb bands (p = 0.04) in the patient group. Interestingly, the majority of these patients belonged to the high-risk group. Acquired hemoglobinopathy is recognized in adult patients. This is a novel study describing evidence of abnormal erythropoiesis in children with hematological malignancies and in particular those classified as high-risk cancer patients according to international criteria.
异常血红蛋白合成通常是遗传性的，但也可能作为血液肿瘤的继发表现出现。本研究的目的是确定诊断为血液恶性肿瘤的儿童中后天性血红蛋白病的存在，并将其与健康对照组进行比较。这是一项前瞻性匹配病例对照研究，于 2010 年至 2012 年进行。每例血液恶性肿瘤患者均匹配 2 例性别、年龄和种族相同的健康对照。排除有其他合并症的患者。所有样本均进行活体染色和高效液相色谱（HPLC）电泳。在鉴定异常结果后，对所有在希腊人群中常见的α-和β-地中海贫血突变进行了分子遗传学检测。根据特定检测排除了其他贫血原因。共纳入 44 名（32 名男性）平均年龄为 7.1 岁的患者。血液系统疾病包括急性淋巴细胞白血病（24 例）、急性髓细胞白血病（8 例）、非霍奇金淋巴瘤（8 例）、霍奇金病（3 例）和朗格汉斯细胞组织细胞增生症（1 例）。排除先天性血红蛋白病后，患者组中有 18.1%的人出现异常 HPLC 电泳表现，而对照组中为 0%（p<0.001）。患者组表现为明显的小细胞性贫血（p<0.01）和活体染色时发现小包涵体（p=0.034）。对两组的 HPLC 结果进行比较发现，患者组的 HbA 百分比明显降低（p=0.02），HbA2 正常，快速移动的 Hb 带百分比升高（p=0.04）。有趣的是，这些患者大多数属于高危组。后天性血红蛋白病在成年患者中得到认可。本研究是一项描述血液恶性肿瘤儿童中异常红细胞生成的新研究，特别是根据国际标准被归类为高危癌症患者的儿童。
