Department of Women and Newborns, Intermountain Healthcare, Salt Lake City, Utah 84403, USA.
Pediatrics. 2010 Jan;125(1):120-5. doi: 10.1542/peds.2009-0864. Epub 2009 Nov 30.
Hereditary spherocytosis (HS) is the most common inherited hemolytic disease among people of Northern European decent. Neonates with HS can develop significant hyperbilirubinemia, but we suspect that HS is underrecognized as a cause of neonatal jaundice.
We used electronic record repositories of Intermountain Healthcare to identify all neonates with a diagnosis of HS in a recent 5-year period. We compared these with the number of new HS cases anticipated on the basis of national prevalence and also with the number who had elevations in mean corpuscular hemoglobin concentration (MCHC), red cell distribution width (RDW), and bilirubin. We compared MCHC and RDW values of neonates who had direct antiglobulin test-positive (DAT[+]) and DAT(-) results and jaundice with values of neonates who had HS.
Eight neonates received a diagnosis of HS; however, we may have failed to diagnose 90% of cases. To assess whether some with a missed diagnosis of HS developed significant hyperbilirubinemia, we examined records of all 670 with a bilirubin level of >or=20 mg/dL. Records of the 20 with the highest MCHC and RDW values suggested that HS was present but unrecognized in at least 7. Follow-up revealed a subsequent diagnosis of HS in 5; the other 2 are no longer in our health system. MCHC and RDW values were highest in those with HS, intermediate in the DAT(+) group, and lowest in the DAT(-) group. An MCHC of >or=36.0 g/dL had 82% sensitivity and 98% specificity for identifying HS.
We speculate that HS is underrecognized as a cause of neonatal hyperbilirubinemia. We speculate further that an MCHC of >or=36.0 g/dL can alert caregivers to the possibility of HS.
遗传性球形红细胞增多症（HS）是北欧血统人群中最常见的遗传性溶血性疾病。患有 HS 的新生儿可能会出现显著的高胆红素血症，但我们怀疑 HS 作为新生儿黄疸的病因被低估了。
我们使用 Intermountain Healthcare 的电子病历存储库来确定最近 5 年内所有被诊断为 HS 的新生儿。我们将这些病例与根据全国患病率预期的新 HS 病例数以及 MCHC（平均红细胞血红蛋白浓度）、红细胞分布宽度（RDW）和胆红素升高的病例数进行了比较。我们比较了直接抗球蛋白试验阳性（DAT[+]）和 DAT（-）结果以及黄疸新生儿的 MCHC 和 RDW 值与 HS 新生儿的 MCHC 和 RDW 值。
有 8 名新生儿被诊断为 HS；然而，我们可能误诊了 90%的病例。为了评估是否有一些 HS 漏诊病例出现了显著的高胆红素血症，我们检查了所有胆红素水平>20mg/dL 的 670 名新生儿的记录。根据 MCHC 和 RDW 值最高的 20 名新生儿的记录，至少有 7 名新生儿存在但未被识别的 HS。随访发现，其中 5 名新生儿随后被诊断为 HS；另外 2 名新生儿已不在我们的医疗系统中。HS 组的 MCHC 和 RDW 值最高，DAT（+）组次之，DAT（-）组最低。MCHC>or=36.0g/dL 对识别 HS 的灵敏度为 82%，特异性为 98%。
我们推测 HS 作为新生儿高胆红素血症的病因被低估了。我们进一步推测，MCHC>or=36.0g/dL 可以提醒医护人员注意 HS 的可能性。
