A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency

Table 2 The clinical data of three families

Items	Family 1							Family 2				Family 3
patient	I1	I2	II1	II2	II3	III1	III2	I1	I2	II1	II2	I1	I2	II1
age	61	59	39	36	27	2.5	0.5	36	37	8	1	32	29	0.5
Clinical diagnosis	N	CHM	N	CHM	N	D-G6PD	N	N	CHM	CHM	D-G6PD	N	CHM	D-G6PD
G6PD activity (%)	97.5	63.8	98.3	65.8	96.4	3.5	98.1	96.2	67.2	66.1	4.6	95.8	61.8	5.1
RBC (10¹²/L)	4.78	3.28	3.98	3.24	4.54	2.72	4.59	4.98	3.78	3.04	1.73	4.51	3.46	2.61
Hb(g/L)	155	95	129	93	148	89	134	133	109	97	54	146	95	99
HCT (%)	0.44	0.29	0.36	0.28	0.42	0.26	0.40	0.41	0.33	0.28	0.15	0.43	0.29	0.29
TBIL (unol/L)	17.39	10.1	14.7	11.62	8.70	158.1	13.1	5.9	21.9	17.0	57.2	18.65	6.76	154.27
DBIL (unol/L)	5.4	2.3	4.1	2.8	2.0	19.5	2.8	2.0	6.1	5.2	10.9	6.8	3.0	17.5

All the test results of the patients were from the clinical tests in the clinical laboratory. The clinical laboratory performs quality control every day to ensure the reliability and accuracy of the test results
N normal, CHM chronic hemolytic anemia, RBC BRI adult 3.8–5.1 10¹²/L, child 3.1–5.3 10¹²/L, Hb BRI adult 115–150 g/L, child 110–149 g/L, HCT BRI adult 0.35–0.45, child 0.40–0.50), TBIL BRI 2–22 unol/L, DBIL BRI 0–7.0 unol/L, BRI biological reference Interval, RBC red cell count, Hb hemoglobin, HCT hematocrit, TBIL total bilirubin, DBIL direct bilirubin

ISSN: 1471-2350