Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
J Perinatol. 2013 May;33(5):404-6. doi: 10.1038/jp.2012.67.
The diagnosis of hereditary spherocytosis (HS) in a newborn infant is generally made on the basis of a positive family history, spherocytes on blood film and Coombs-negative hemolytic jaundice of variable severity with an elevated mean corpuscular hemoglobin concentration (MCHC) and a low mean corpuscular volume (MCV). In general, sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) quantification of erythrocyte membrane proteins is not needed to make the clinical diagnosis of HS. However, we observed that a neonate with no family history of HS, but with abundant spherocytosis on repeated blood films, Coombs-negative hemolytic jaundice and normal MCHC and MCV measurements, where SDS-PAGE revealed alpha-spectrin deficiency, a rare autosomal-recessive variety of HS that generally has a severe clinical phenotype.
遗传性球形红细胞增多症（HS）的新生儿诊断通常基于阳性家族史、血片上的球形红细胞、Coombs 阴性的不同严重程度的溶血性黄疸，伴有较高的平均红细胞血红蛋白浓度（MCHC）和较低的平均红细胞体积（MCV）。通常情况下，不需要进行红细胞膜蛋白十二烷基硫酸钠聚丙烯酰胺凝胶电泳（SDS-PAGE）定量来做出 HS 的临床诊断。然而，我们观察到一个新生儿没有 HS 的家族史，但多次血片检查显示大量球形红细胞，Coombs 阴性的溶血性黄疸，以及正常的 MCHC 和 MCV 测量值，SDS-PAGE 显示α-血影蛋白缺乏，这是一种罕见的常伴有严重临床表现的常染色体隐性遗传 HS 变异型。
