Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, South Korea.
Int J Lab Hematol. 2011 Aug;33(4):369-77. doi: 10.1111/j.1751-553X.2011.01299.x. Epub 2011 Feb 25.
Neonates with Down syndrome (DS) are predisposed to developing transient abnormal myelopoiesis (TAM) and acute myeloid leukemia (AML) associated with DS. However, there is a paucity of data on hematological aberrations and GATA1 mutations in neonates with DS in East Asian populations.
Total 109 patients with DS who had one or more CBCs obtained were enrolled. The molecular analysis of the GATA1 gene performed in 10 patients (three TAM, three AML associated with DS at diagnosis, one remission case of AML associated with DS and three DS without TAM or AML).
East Asian DS neonates showed low frequency of thrombocytopenia, uncommon neutrophilia and higher prevalence rate of TAM compared to previous reports from western countries. GATA1 mutations were identified in almost all TAM and AML associated with DS samples, but were not detected in the samples from DS without TAM or AML associated with DS.
East Asian DS neonates and children showed distinctive spectrum of hematological abnormalities.
唐氏综合征（DS）患儿易发生一过性髓系增生异常（TAM）和与 DS 相关的急性髓系白血病（AML）。然而，东亚人群中 DS 新生儿的血液学异常和 GATA1 突变的数据较少。
共纳入 109 例有 1 项或多项 CBC 检查的 DS 患儿。对 10 例患儿（3 例 TAM、3 例诊断时与 DS 相关的 AML、1 例 DS 相关 AML 缓解期、3 例无 TAM 或 AML 的 DS）进行 GATA1 基因突变分析。
与西方国家的既往报道相比，东亚 DS 新生儿血小板减少症发生率较低，中性粒细胞增多症不常见，TAM 发生率较高。所有 TAM 和与 DS 相关的 AML 样本中均检测到 GATA1 突变，但在无 TAM 或与 DS 相关的 AML 的 DS 样本中未检测到。
东亚 DS 新生儿和儿童表现出独特的血液学异常谱。
