Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran

Table 3

Allele frequency and number of affected chromosomes by β-thalassaemia mutations in Mazandaran and Golestan provinces ().

Mutation		Mazandaran	Percent	Golestan	Percent
-101 C>T	c.-151C>T	12	1.23	0	0
-88 C>A	c.-138C>A	0	0	6	1.54
-87 C>A	c.-137C>A	1	0.10	0	0.00
-30 T>C	c.-80T>C	2	0.21	0	0.00
-28 A>C	c.-78A>C	3	0.31	0	0.00
3-UTR-1570 T>C	c.96T>C	1	0.10	0	0.00
5-UTR-22 G>A	c.-29G>A	26	2.67	1	0.26
CD 5 (-CT)	c.17_18delCT	9	0.92	3	0.77
CD 8 (-AA)	c.25_26delAA	48	4.93	8	2.05
Fr 8/9 (+G)	c.27_28insG	13	1.33	15	3.85
CD 14/15 (+G)	c.45_46insG	0	0	1	0.26
CD 15 TGG>TAG	c.47G>A	2	0.21	17	4.36
CD 17 AAG>TAG	c.52A>T	0	0.00	1	0.26
CD 22/23/24 (-GAA GTT GGT)	c.68_74delAAGTTGG	52	5.34	1	0.26
CD 25/26 (+T)	c.78_79insT	1	0.10	0	0.00
CD 27/Hb Knossos GCC> TCC	c.82G>T	5	0.51	0	0.00
CD 30 AGG>ACG	c.92G>C	39	4.00	3	0.77
IVSI-1 G>A	c.92+1G>A	9	0.92	7	1.79
IVSI-2 T>C	c.92+2T>C	1	0.10	0	0.00
IVSI-5 G>C	c.92+5G>C	36	3.70	174	44.62
IVSI-6 T>C	c.92+6T>C	8	0.82	6	1.54
IVSI-25 del (-GTCTATTTTCCCACCCTTAGGCTGC)	c.93-22_95del	6	0.62	9	2.31
IVSI-110 G>A	c.93-21G>A	12	1.23	5	1.28
IVSI-128 T>G	c.93-3T>G	6	0.62	0	0.00
IVSI-129 A>G	c.93-2A>G	1	0.10	0	0.00
IVSI-130 G>C	c.93-1G>C	12	1.23	5	1.28
CD 36/37 (-T)	c.112delT	4	0.41	1	0.26
CD37/38/39 (-GACCCAG)	c.114_120delGACCCAG	0	0.00	1	0.26
CD39 CAG>TAG	c.118C>T	4	0.41	1	0.26
CD 41/42 (-TTCT)	c.126_129delCTTT	1	0.10	0	0.00
CD 44 (-C)	c.135delC	9	0.92	4	1.03
CD 56 (GGC>CGC)	c.169 G>C	1	0.10	0	0.00
CD 77 CAC>GAC	c.232C>G	1	0.10	0	0.00
CD 80 AAC>AA-	c.243 C>-	0	0.00	1	0.26
CD 81 CTC>-TC	C.245-246delTC	0	0.00	1	0.26
CD 80/81 (-C)	C.243-244delC	0	0.00	3	0.77
CD 82/83 (-G)	c.251delG	8	0.82	3	0.77
CD101 GAG>TAG	c.304G>T	1	0.10	0	0.00
IVSII-1 G>A	c.315+1G>A	576	59.14	106	27.18
IVSII-1 G>C	c.315+1G>C	2	0.21	0	0.00
IVSII-2 T>G	c.315+2T>G	3	0.31	0	0.00
IVSII-654 C>T	c.316-197C>T	2	0.21	0	0.00
IVSII-745 C>G	c.316-106C>G	21	2.16	4	1.03
IVSII-848 C>A	c.316-3C>A	1	0.10	1	0.26
IVSII-850 G>T	c.316-1G>T	8	0.82	0	0.00
Sicilian	g.64336_77738del13403	7	0.72	0	0.00
Asian-Indian	g.50509_83170del32662	7	0.72	0	0.00
CD 123 ACC>AAC	c.371C>A	1	0.10	0	0.00
CD 123/124/125 deletion	c.370_378delACCCCACCA	0	0.00	1	0.26
CD 126 GTG>GGG	c.380T>G	9	0.92	0	0.00
CD 146 CAC>CTC	c.440A>T	1	0.10	0	0.00
Delta-beta-gamma deletion	Delta-beta-gamma deletion	1	0.10	0	0.00
Exon 3 deletion	Exon 3 deletion	1	0.10	1	0.26
		974	100	390	100