Neonatal dehydrated hereditary stomatocytosis presented as PIEZO1 gene variant: a case report
10.3760/cma.j.cn113903-20240703-00487
- VernacularTitle:表现为 PIEZO1基因变异的新生儿脱水型遗传性口形红细胞增多症1例
- Author:
Mengyue HUO
1
;
Chunli LIU
1
;
Hua MEI
1
;
Chunzhi LIU
1
Author Information
1. 内蒙古医科大学附属医院新生儿科，呼和浩特 010050
- Publication Type:Journal Article
- Keywords:
Hereditary stomatocytosis;
Erythrocyte deformability;
Infant, newborn;
Anemia;
PIEZO1 protein, human
- From:
Chinese Journal of Perinatal Medicine
2025;28(9):779-782
- CountryChina
- Language:Chinese
-
Abstract:
This report described a neonate with dehydrated hereditary stomatocytosis (DHSt) presented as a PIEZO1 gene variant. The infant was transferred to the neonatal unit due to severe anemia indicated by umbilical artery blood gas analysis. Physical examination revealed generalized pallor with pale gums, nail beds, and conjunctivae, but no hepatosplenomegaly. Laboratory findings showed markedly reduced hemoglobin (82 g/L), elevated reticulocyte count (320.30×10 9/L), and increased reticulocyte percentage (13.27%). Jaundice developed at 18 hours of age, with a peak total serum bilirubin at 137.1 μmol/L (predominantly indirect) by 24 hours, confirming neonatal hyperbilirubinemia. Whole-exome sequencing identified a heterozygous missense variant in PIEZO1 [c.6280C>T (p.Leu2094Phe)], inherited from the asymptomatic father. The infant was diagnosed with DHSt and treated with packed red blood cell transfusion and phototherapy, achieving clinical stabilization prior to discharge. Follow-up at six and seven months showed normalized hematologic parameters. At 11 months, developmental milestones were age-appropriate, though mild anemia persisted (hemoglobin 110 g/L), prompting dietary iron supplementation.
