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

Table 1 Clinical characteristics of patients with UGT1A1-related disorders, n (%)/medians (interquartile range)

Clinical characteristics	Total, n = 35 (100)	CNS-I, n = 1 (2.9)	CNS-II, n = 7 (20.0)	GS, n = 27 (77.1)	P value1
Demographics
Sex					1.0002
Male	27 (77.1)	1 (100)	6 (85.7)	20 (74.1)
Female	8 (22.9)	0 (0.0)	1 (14.3)	7 (25.9)
Nationality					0.5112
Bahraini	32 (91.4)	1 (100)	6 (85.7)	25 (92.6)
Non-Bahraini	3 (8.6)	0 (0.0)	1 (14.3)	2 (7.4)
Age at the time of diagnosis (years)	13.1 (9.0-16.8)	0.58	11.3 (0.3-16.8)	13.4 (11.9-16.9)	0.1103
Age at the time of study (years)	15.2 (13.3-19.0)	21.4	15.3 (14.2-19.0)	14.9 (13.1-18.5)	0.7823
Gestational age (n = 30)					1.0002
Term	26 (86.7)	1 (100)	6 (85.7)	19/22 (86.4)
Preterm	4 (13.3)	0 (0.0)	1 (14.3)	3/22 (13.6)
Birth weight (n = 27)	3 (2.5-3.5)	3.0	3.0 (2.5-3.5)	3.0 (2.5-3.5)	0.9543
Family history of prolonged jaundice	9 (25.7)	0 (0.0)	4 (57.1)	5 (18.5)	0.0612
Parental consanguinity	14 (40.0)	1 (100)	4 (57.1)	9 (33.3)	0.3872
Clinical presentations
Jaundice	35 (100)	1 (100)	7 (100)	27 (100)	N/A
Changes in urine color	13 (37.1)	0 (0.0)	2 (28.6)	11 (40.7)	0.6822
Pruritus	10 (28.6)	0 (0.0)	3 (42.9)	7 (25.9)	0.3942
Changes in stool color	5 (14.3)	0 (0.0)	1 (14.3)	4 (14.8)	1.0002
Splenomegaly	13 (37.1)	0 (0.0)	2 (28.6)	11 (40.7)	0.6822
Hepatomegaly	7 (20.0)	0 (0.0)	1 (14.3)	6 (22.2)	1.0002
Associated diseases
G6PD deficiency	17 (48.6)	1 (100)	4 (57.1)	12 (44.4)	0.6812
Sickle cell disease	14 (40.0)	0 (0.0)	2 (28.6)	12 (44.4)	0.6722
Alpha-thalassemia	5 (14.3)	1 (100)	1 (14.3)	3 (11.1)	1.0002
Sickle-thalassemia	3 (8.6)	0 (0.0)	0 (0.0)	3 (11.1)	1.0002
Sickle cell trait	3 (8.6)	0 (0.0)	1 (14.3)	2 (7.4)	0.5112
Beta-thalassemia major	2 (5.7)	0 (0.0)	0 (0.0)	2 (7.4)	1.0002
Beta-thalassemia trait	1 (2.9)	0 (0.0)	0 (0.0)	1 (3.7)	1.0002
Eczema	10 (28.6)	0 (0.0)	3 (42.9)	7 (25.9)	0.3942

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.

²Fisher’s exact test.

³Mann-Whitney U test.

CNS: Crigler-Najjar syndrome; GS: Gilbert syndrome; N/A: Not applicable; G6PD: Glucose-6-phosphate dehydrogenase.