Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family

Figures & data

Figure 1. Heterozygous ANK1 c.1801-1G > C mutation in two patients from a Chinese family with hereditary spherocytosis. A. Spherocytes were observed in the film of the proband. B. Family tree and the genotype at the ANK1 c.1801-1 position. Squares and circles denote males and females, respectively. Black symbols denote patients with HS.

Figure 2. Sequencing diagram of family members. Sequencing diagrams indicate the presence of the ANK1 mutation in the proband and his father but not in his mother.

Table 1. Laboratory test results of the patient and his father.

Test	Proband Result	Father Result	Reference
RBC (× 10^12/L)	2.64	3.16	3.7–5.7
Hb (g/L)	61	120	110–160
MCV (fl)	76.5	107.9	82–100
MCH (pg)	23.1	37.8	27.0–34.0
MCHC (g/L)	302	350.7	316–354
Ret (%)	11.54	5.8	0.5–1.5
TBIL (μmol/L)	86.5	NA	1.7–20
BRD (μmol/L)	12.2	NA	0–6
IBIL (μmol/L)	74.3	NA	0–14

RBC: red blood cell; Hb: hemoglobin; MCV: mean corpuscular volume; MCH: mean corpuscular hemoglobin; MCHC:mea corpuscular hemoglobin concentration; Ret: reticulocytes; TBIL: total bilirubin; BRD: bilirubin direct; IBIL: indirect bilirubin; NA: indicates not available.