Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to a de novo ankyrin mutation: A case report

Table 1 Clinical features, laboratory investigations, and genetics analysis results of three cases

Patient	Case 1	Case 2	Case 3	Reference
Gender	Male	Male	Male
Gestational age	39+6 wk	Term infant	31 wk
Appearance characteristics
Time to first onset	Within 24 h after birth	4 wk after birth	3 d after birth
Pallor	-	+	+
Jaundice	Severe	Moderate	Moderate
Laboratory examinations
Hb (g/L)	130	51	80	150-230
MCV (fL)	96.2	75.8	70.8	55.4-60.2
MCHC (g/dL)	36.2	36.0	33.0	31.7-33.0
RET (%)	12.2	13.4	8.2	0.5-1.5
MCHC/MCV (%)	37.6	47.4	46.6
Erythrocyte osmotic fragility	Negative	Positive	Positive
Genetics	De novo heterozygous nonsense mutation in exon 9 of ANK1 (c.841C > T,p.Arg281Ter)	De novo heterozygous nonsense mutation in exon 1 of ANK1 (c.25G > T,p.Glu9Ter)	De novo heterozygous nonsense mutation in exon 4 of ANK1 (c.325C > T,p.Gln109Ter)

Case 1: The patient in our case; Case 2: The patient reported by Gundel et al[17]; Case 3: The patient reported by Liu et al[18]. Hb: Hemoglobin; MCHC: Mean corpuscular hemoglobin concentration; MCV: Mean corpuscular volume; RET: Reticulocyte.