UGT1A1-related disorders in Bahrain: A genetic and clinical overview of Crigler-Najjar and Gilbert syndromes

Table 2 Biochemical parameters of patients with UGT1A1-related disorders, n (%)/median (interquartile range)

Biochemical parameters	Normal range	Total, n = 35 (100)	CNS-I, n = 1 (2.9)	CNS-II, n = 7 (20.0)	GS, n = 27 (77.1)	P value1 (95%CI)
Hemoglobin (g/dL)	12.0-14.5	10.9 ± 2.1	10.9	11.0 ± 1.7	10.9 ± 2.2	0.955 (-1.8, 1.9)2
Hematocrit (%)	33-45	33.2 ± 5.8	32.1	33.9 ± 3.8	33.1 ± 6.4	0.721 (-4.3, 6.1)2
RBC (× 1012/L)	3.9-5.2	4.4 ± 0.9	5.3	4.5 ± 0.9	4.4 ± 0.9	0.732 (-0.7, 0.9)2
Reticulocyte (%) (n = 32)	0.5-1.5	2.7 (1.9-5.6)	1.9	1.8 (1.1-6.1) (n = 6)	3.0 (2.1-5.3) (n = 25)	0.3683
Platelet count (× 109/L)	150-400	286 (221-396)	263	331 (259-403)	282 (221-381)	0.3383
Total protein (g/L)	57-82	74 ± 5.9	62.0	70.3 ± 3.9	74.8 ± 5.9	0.086 (-9.1, 0.62)2
Serum albumin (g/L)	38-54	44.5 ± 3.4	37.0	44.1 ± 5.3	44.7 ± 2.9	0.706 (-3.6, 2.4)2
Total bilirubin at presentation (μmol/L)	5-21	89.7 ± 52.7	409	105.3 ± 46.2	88.2 ± 53.8	0.447 (-28.2, 62.5)2
Direct bilirubin (μmol/L)	≤ 5.0	14 (10-18)	4.0	15 (8-16)	14 (11-19)	0.4683
Indirect bilirubin at presentation (μmol/L)	≤ 18	72 (24-126)	405	95 (40-122)	68 (23-126)	0.1943
Maximum total bilirubin (μmol/L)	5-21	147 (98-228)	409	188 (121-227)	133 (91-238)	0.4063
Maximum indirect bilirubin (μmol/L)	≤ 18	122.7 (82-210)	405	173 (109-210)	119 (67-182)	0.2973
ALP (U/L)	142-335	185 (132-254)	246	254 (132-343)	180 (118-204)	0.3833
ALT (U/L)	≤ 33	17 (12-25)	106	17 (11-25)	17 (12-22)	0.9833
GGT (U/L)	≤ 38	11 (8-20)	20	15 (7-38)	10 (9-16)	0.9323
Vitamin D level (nmol/L) (n = 27)	> 50	31.3 ± 11.5	48	31.7 ± 6.0 (n = 3)	30.5 ± 11.8 (n = 23)	0.871 (-13.3, 15.6)2

¹After excluding the single patient with Crigler-Najjar syndrome-I, the P values represent the differences between Crigler-Najjar syndrome-II and Gilbert syndrome groups only. Boldface indicates statistically significant difference with P < 0.05.

²Student’s t-test.

³Mann-Whitney U test.

CNS: Crigler-Najjar syndrome; GS: Gilbert syndrome; RBC: Red blood cells; ALP: Alkaline phosphatase; ALT: Alanine aminotransferase; GGT: Gamma-glutamyl transferase.