Cortesi Valeria, Manzoni Francesca, Raffaeli Genny, Cavallaro Giacomo, Fattizzo Bruno, Amelio Giacomo Simeone, Gulden Silvia, Amodeo Ilaria, Giannotta Juri Alessandro, Mosca Fabio, Ghirardello Stefano
Department of Clinical Sciences and Community Health, Università degli Studi di Milano, 20122 Milan, Italy.
Neonatal Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Diagnostics (Basel). 2021 Aug 26;11(9):1549. doi: 10.3390/diagnostics11091549.
Congenital hemolytic anemias (CHAs) are a group of diseases characterized by premature destruction of erythrocytes as a consequence of intrinsic red blood cells abnormalities. Suggestive features of CHAs are anemia and hemolysis, with high reticulocyte count, unconjugated hyperbilirubinemia, increased lactate dehydrogenase (LDH), and reduced haptoglobin. The peripheral blood smear can help the differential diagnosis. In this review, we discuss the clinical management of severe CHAs presenting early on in the neonatal period. Appropriate knowledge and a high index of suspicion are crucial for a timely differential diagnosis and management. Here, we provide an overview of the most common conditions, such as glucose-6-phosphate dehydrogenase deficiency, pyruvate kinase deficiency, and hereditary spherocytosis. Although rare, congenital dyserythropoietic anemias are included as they may be suspected in early life, while hemoglobinopathies will not be discussed, as they usually manifest at a later age, when fetal hemoglobin (HbF) is replaced by the adult form (HbA).
先天性溶血性贫血（CHAs）是一组由于内在红细胞异常导致红细胞过早破坏为特征的疾病。CHAs的提示性特征为贫血和溶血，伴有高网织红细胞计数、非结合性高胆红素血症、乳酸脱氢酶（LDH）升高和触珠蛋白降低。外周血涂片有助于鉴别诊断。在本综述中，我们讨论了新生儿期早期出现的重度CHAs的临床管理。适当的知识和高度的怀疑指数对于及时进行鉴别诊断和管理至关重要。在此，我们概述了最常见的情况，如葡萄糖-6-磷酸脱氢酶缺乏症、丙酮酸激酶缺乏症和遗传性球形红细胞增多症。虽然先天性红细胞生成异常性贫血罕见，但因其可能在生命早期被怀疑，故也包括在内，而血红蛋白病将不做讨论，因为它们通常在胎儿血红蛋白（HbF）被成人形式（HbA）取代的较晚年龄才表现出来。
