Table 3 Genetic Findings of β thalassemia intermedia cohort in Sri Lanka

From: Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka

Genetic findings

β thalassemia intermedia disease severity

Mild

Moderate

Severe

β thalassemia heterozygotes (n = 33)

β thalassemia heterozygote and excess α globin chains

β thalassemia heterozygote and with membranopathies

β thalassemia heterozygote (Unexplained)*

17

1

8

2

1

3

1

Total

18

11

4

β thalassemia homozygotes (n = 17)

β thalassemia homozygote and α globin gene deletions

β thalassemia homozygote with mild β alleles

β thalassemia homozygote with Hb F modifiers

β thalassemia homozygote HPFH type 3 deletion

1

5

2

1

7

1

Total

8

1

8

  1. *Unable to explain genetic mechanism for the phenotypic diversity from the available genetic data.