Table 4 Allele frequencies in 428 carriers of δ-globin gene mutations in Cyprus and in individual districts.

From: The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study

Common name

HGVS name

IthaID 1

Cyprus-wide

Per district (%) (95% CI)

n

Frequency (%) (95% CI)

Larnaca/Famagusta (n = 138)

Limassol(n = 94)

Nicosia(n = 160)

Paphos(n = 19)

Hb A2-Yialousa

HBD:c.82G>T

1332

218

48.12 (43.45, 52.83)

59.42 (50.72, 67.59)

24.47 (16.44, 34.62)

49.38 (41.43, 57.35)

36.84 (17.23, 61.37)

CD 4 (ACT>ATT)

HBD:c.14C>T

1331

80

19.87 (16.35, 23.91)

9.42 (5.32, 15.88)

28.72 (20.09, 39.12)

22.50 (16.44, 29.91)

36.84 (17.23, 61.37)

Hb A2-Yokoshima

HBD:c.77G>A

1360

51

11.26 (8.57, 14.62)

13.77 (8.70, 20.92)

20.21 (12.90, 30.01)

6.88 (3.65, 12.27)

5.26 (0.28, 28.11)

Hb A2-Pelendri

HBD:c.425T>C

1392

31

6.84 (4.77, 9.68)

3.62 (1.34, 8.68)

15.96 (9.50, 25.27)

5.00 (2.34, 9.95)

–

IVS II-897 (A>G)

HBD:c.316-2A>G

2473

27

5.96 (4.04, 8.66)

7.25 (3.72, 13.27)

7.45 (3.30, 15.25)

3.75 (1.53, 8.35)

5.26 (0.28, 28.11)

Hb A2-Famagusta

HBD:c.60C>A

2292

8

1.77 (0.82, 3.59)

1.45 (0.25, 5.67)

–

1.88 (0.49, 5.81)

15.79 (4.17, 40.49)

Hb A2-Troodos

HBD:c.349C>T

1384

5

1.10 (0.41, 2.71)

1.45 (0.25, 5.67)

1.06 (0.06, 6.62)

1.25 (0.22, 4.91)

–

IVS I-2 (T>C)

HBD:c.92 + 2T>C

1334

5

1.10 (0.41, 2.71)

0.72 (0.04, 4.57)

1.06 (0.06, 6.62)

1.25 (0.22, 4.91)

–

-55 (T>C)

HBD:c.-105T>C

1326

4

0.88 (0.28, 2.40)

1.45 (0.25, 5.67)

–

1.25 (0.22, 4.91)

–

CD 59 (-A)

HBD:c.178delA

1337

4

0.88 (0.28, 2.40)

–

–

2.50 (0.80, 6.68)

–

Hb A2-Wrens

HBD:c.295G>A

1339

4

0.88 (0.28, 2.40)

–

–

2.50 (0.80, 6.68)

–

-30 (T>C)

HBD:c.-80T>C

1329

2

0.44 (0.08, 1.76)

–

–

1.25 (0.22, 4.91)

–

Hb A2-NYU

HBD:c.39T>A

1354

2

0.44 (0.08, 1.76)

0.72 (0.04, 4.57)

–

0.62 (0.03, 3.96)

–

Hb A2′ (or Hb B2)

HBD:c.49G>C

1356

1

0.22 (0.01, 1.42)

–

1.06 (0.06, 6.62)

–

–

Hb A2-Etolia

HBD:c.257T>C

1376

1

0.22 (0.01, 1.42)

0.72 (0.04, 4.57)

–

–

–

  1. n: number of alleles.
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