Description

Lim et al developed a model for identifying a patient with hemochromatosis who is homozygous for C282Y based on serum ferritin and transferrin saturation. This can help to guide the diagnostic workup. The authors are from the Western University in London, Ontario, and was based on the HEIRS Study.


Patient selection: hemochromatosis, age >= 25 years

 

Outcome: homozygous for C282Y

 

Parameters:

(1) serum ferritin concentration in µg/L

(2) transferrin saturation in percent

 

X =

= (0.09762 * (transferrin saturation)) + (0.0009248 * (ferritin)) - 9.69091

 

where:

• The original coefficients were rounded. The original values went to 10 decimal points.

• The original paper gave separate equations for men and women but the coefficients were the same.

 

probability of homozygosity =

= 1 / (1 + EXP((-1) * X))

 

Performance:

• The area under the ROC curve was 0.89 for women and 0.91 for men.


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