Possible association of 3′ UTR +357 A>G, IVS11-nt 93 T>C, c.1311 C>T polymorphism with G6PD deficiency

Figures & data

Table 1. The genetic variants identified in G6PD-deficient 67 samples.

	Location	Number	cDNA nucleotide substitution	Codon (a.a. substitution)	Class	Endonuclease digestion
G6PD Mediterranean	Exon 6	rs5030868	563C>T	188 (Ser>Phe)	II	MBoII
G6PD A-	Exon 4/Exon 5	rs1050828/rs1050829	202 G>A 376 A>G	68 (Val>Met ) 126 (Asn>Asp)	III	NlaIII BstCI or FokI
G6PD Cairo	Exon 5	CM962574	404A>C	135 (Asn>Thr)	II^a	FauI
G6PD Chatham	Exon 9	rs5030869	1003G>A	335 (Ala>Thr)	II	AciI
G6PD Beverly Hills	Exon 10	rs137852321	1160G>A	387 (Arg>His)	I	HlaI
G6PD Gaza	Exon		536 G>A	179 Ser>Asn	I or II
c.* +357 A>G	3′ UTR	rs1050757	+357 A>G	NA
c.1365-13T>C	Intron 11	rs2071429	93 T>C	NA		NlaIII
c.1311 C>T	Exon 11	rs2230037	1311 C>T	437 Y>Y silent		BclI

^aBased on Reading et al. [13].

Table 2. Biochemical and hematological parameters of the four G6PD-deficient patients with polymorphism as compared to 63 patients with exonic mutations.

Patients	Genotype	Sex	Neonatal jaundice	Age^a (months)	At admission of first hemolytic crisis				At steady state (at least 4 months after hemolytic crisis)
					G6pd IU/gHb (6.97–20.5)^b	Hb g/dL (10.5–12.7)^b	Abs retics X 109/L (8.8–56.1)^b	Unconjugated bilirubin µmol/L (3.4–12.0)^b	G6pd IU/ gHb (6.97–20.5)^b	Hb g/dL (10.5–12.7)^b	Abs retics X 109/L (8.8–56.1)^b	Unconjugated bilirubin µmol/L (3.4–12.0)^b
1	c.* +357 A>G/c.1365-13T>C/ c.1311 C>T	M	Yes	15	2.90	6.2	121.0	NA	6.72	10.9	63.80	1.02
2	c.* +357 A>G/c.1365-13T>C/ c.1311 C>T	M	Yes	24	2.23	7.1	133.4	1.5	7.51	11.7	52.03	0.95
3	c.* +357 A>G/c.1365-13T>C/ c.1311 C>T (hetero for all)	F	No	34	4.20	6.3	264.2	2.61	7.23	10.6	42.1	0.88
4	c.* +357 A>G	M	No	30	5.43	7.7	108.1	1.94	7.70	11.9	28.5	0.73
63 subjects	Exonic mutations (median)	56M 7F	30/63	27.5	1.90	5.20	112.9	3.90	1.63	11.4	78.1	1.02
	Mean (SD)		30/63	28.15 (12.06)	2.08 (0.91)	5.29 (1.23)	118.2 (48.12)	4.25 (2.64)	2.03 (1.02)	11.3 (0.80)	78.6 (29.11)	1.05 (0.19)

^aAge at first hemolytic crisis required hospitalization.

^bNormal values as mentioned in Reading et al. [13].

Reading NS, Sirdah MM, Shubair ME, et al. Favism, the commonest form of severe hemolytic anemia in Palestinian children, varies in severity with three different variants of G6PD deficiency within the same community. Blood Cell Mol Dis. 2016;60:58–64.

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