Related Experiment Video
Updated: Jun 30, 2026
A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
Published on: July 5, 2022
Screening for hemochromatosis in children of homozygotes: prevalence and cost-effectiveness
P C Adams1, A E Kertesz, L S Valberg
1Department of Medicine, University Hospital, University of Western Ontario, London, Canada.
Insights
Screening children of hereditary hemochromatosis (HH) homozygotes is cost-effective. Early screening at age 10 saves costs and improves quality of life, especially when venesection costs are reduced.
Area of Science:
- Medical Genetics
- Public Health
- Clinical Medicine
Background:
- Hereditary hemochromatosis (HH) is an autosomal recessive disorder.
- Parents with HH often worry about the genetic risks for their children.
- Optimal screening age and cost-effectiveness for children of HH homozygotes are not well-defined.
Purpose of the Study:
- To determine the prevalence of HH homozygotes among children of affected parents.
- To assess the cost-effectiveness and utility of early screening for these children.
- To identify optimal screening strategies for pediatric HH.
Main Methods:
- Utilized a clinical database of 255 children from HH homozygote families.
- Assessed prevalence, biochemical abnormalities, and symptoms in young homozygotes.
- Employed decision analysis to estimate screening costs and quality-adjusted life days (QALYs).
Main Results:
- Identified 11 HH homozygotes among children of homozygotes.
- Only one male experienced a severe outcome (cirrhosis).
- Screening at age 10 yielded cost savings ($12/child) and QALY gains (10 days/child); screening at age 20 yielded greater savings ($65/child).
Conclusions:
- Screening children of HH homozygotes for hereditary hemochromatosis is recommended starting at age 10.
- Transferrin saturation and ferritin are effective screening tests.
- Cost savings increase with earlier screening and reduced venesection costs, e.g., through voluntary blood donation.
Abstract:
Although hereditary hemochromatosis is an autosomal recessive disease, most homozygotes are concerned with the genetic implications for their children. The optimal age for testing children and the cost implications of screening their children have not been clearly established. A clinical database consisting of 255 children from families with at least one homozygote is used to assess the prevalence of homozygotes among children of homozygous parents and to review the biochemical abnormalities and life-threatening symptoms in these young adults. Decision analysis is used to estimate the cost and utility of screening children of a homozygous parent. Eleven homozygotes were discovered among children of homozygotes. Only one male had a life-threatening event, cirrhosis. Decision analysis estimated cost saving of $12 per child screened ($ net present value) and a saving of 10 quality-adjusted days per child screened at age 10 years compared with not screening. If screening began at age 20 years, there is a cost saving of $65 per child screened. Sensitivity analysis showed that the major factors influencing cost savings were the cost of venesections, sensitivity and specificity of the screening tests, and prevalence of disease. Because the prevalence of hemochromatosis is higher in children of homozygotes than in the general population, screening with transferrin saturation and ferritin as early as age 10 years is recommended. Savings are augmented if the cost per venesection is eliminated by allowing hemochromatosis patients to become voluntary blood donors.
