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Table 2 Genotypes and phenotypes of α-thalassemia cases

From: Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence

Genotype

Mutation

Phenotype

N (%)

--SEA/ αα

Deletional Mutation

α-thalassemia trait

8 (1.3)

- α3.7/ αTSaudiα

Deletional and Non-deletional Mutation

α-thalassemia trait

41 (6.6)

- α3.7IVS1(−5nt)α

Deletional and Non-deletional mutation

α-thalassemia trait

11 (1.8)

αIVS1 (−5nt)α/ αTSaudiα

Non-deletional mutations

α-thalassemia trait

13 (2.1)

- α3.7/ - α4.2α

Deletional mutation

α-thalassemia trait

1 (0.2)

--MED/αTTurkishα

Deletional and Non-deletional Mutation

HbH disease

1 (0.2)

- α3.7/- α3.7

Deletional mutation

α-thalassemia trait

163 (26.1)

- α3.7/ αα

Deletional mutation

Silent carrier

124 (19.8)

αTSaudiα/αTSaudiα

Non-deletional mutation

α-thalassemia trait

14 (2.2)

αTSaudiα / αα

Non-deletional mutation

Silent carrier

31 (5)

αIVS1 (−5nt)α / αIVS1 (−5nt)α

Non-deletional mutation

α-thalassemia trait

7 (1.1)

αIVS1 (−5nt)α / αα

Non-deletional Mutation

Silent carrier

129 (20.6)

--MED/αα

Deletional Mutation

Alpha-thal trait

13 (2.1)

No Mutation Detected

69 (11.0)

Total

625 (100)