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Table 3 IO with pathogenic variants in HBB, HFE, TFR2, and SLC40A1 (Ferroportin) genes

From: Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes

Gene

 

HBB

HFE

SLC40A1

TFR2

   

(H63D)

  

Homozygotes

Number

32

0

0

0

Median serum ferritin

(ng/ml)

2546

-

-

-

Median Hepatic T2*

(ms)

4.1

-

-

Median LIC

(mg/g)

6.45

-

-

-

Median Cardiac T2*

(ms)

20.6

-

-

-

Median MIC

(mg/g)

1.12

-

-

-

Compound

Number

18

0

0

0

Heterozygotes

Meadian serum ferritin

(ng/ml)

2490

-

-

-

Median Hepatic T2*

(ms)

4.8

-

-

-

Median LIC

(mg/g)

5.4

-

-

-

Median Cardiac T2*

(ms)

27.15

-

-

-

Median MIC

(mg/g)

0.82

-

-

-

Heterozygotes

Number

2

8

0

0

Median serum ferritin

(ng/ml)

-

1791.5

-

-

Median Hepatic T2*

(ms)

-

4.6

-

-

Median LIC

(mg/g)

5.72

Cardiac T2*

(ms)

-

14.8

-

Median MIC

(mg/g)

-

1.76

-

-