Molecular Detection of Hemoglobin O-Arab in the Sudanese Population

Figures & data

Table 1 Primer Sequences, Annealing Temperatures, and Lengths of the Amplified Fragments

Fragment	Primer Sequence	Annealing	Length
1	F: 5’ CGATCTTCAATATGCTTACCAAG3’ R: 5’ AGT CTT CTC TGT CTC CAC ATG3’	58°C	520bp
2	F: 5’ TGA ACG TGG ATG AAG TTG GTG3’ R: 5’ GAT CCT GAG ACT TCC ACA CTG3’	58°C	532 bp
3	F: 5’ ACA ATG TAT CAT GCC TCT TTG C3’ R: 5’ CAG AAT CCA GAT GCT CAA GGC3’	58°C	476 bp

Figure 1 Gender distribution of study population.

Table 2 Gender and Age Group Distribution of the Study Population

		Gender
		Male		Female		Total
		Count	Row N %	Count	Row N %	Count	Row N %
Age in Years	< or = 5	22	44.9%	27	55.1%	49	100.0%
	5.1 to 10	13	35.1%	24	64.9%	37	100.0%
	>or=10.1	7	50.0%	7	50.0%	14	100.0%
	Total	42	42.0%	58	58.0%	100	100.0%

Figure 2 PCR products were run on 2% agarose gel. Lane M 100bp DNA Marker. Lane 1: amplified PCR product of fragment one (520 bp). Lane 2: amplified PCR product of fragment 2 (532 bp). Lane 3: amplified PCR product of fragment 3 (476bp).

Figure 3 Partial chromatogram represents the normal (wild) and the mutant sequences of the beta-globin gene codon 6 (HbS). (a) shows the wild-type sequence. (b) shows the homozygous mutation (HBB):c.20A>T (p.Glu7Val). (c) shows the heterozygous mutation.

Table 3 Hb O-Arab Mutation Screening Results After Sequencing

	Hb O Arab Mutation (+ve)	Cases with No Hb O-Arab Mutation (-ve)
No of cases	5	95

Table 4 Hb O-Arab Mutation After HBB Gene Sequencing

Name	Mutation	HGVS Nomenclature
Hb O Arab mutation	HBB:364G>A	(HBB):c.364G>A (p.Glu122Lys)

Figure 4 The heterozygous Hb O-Arab variant (HBB):c.364G>A (p.Glu122Lys). Partial chromatogram representing sequencing analysis of intron two and exon 3 of the beta-globin gene.