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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
Published on: August 21, 2016
Population screening in hereditary hemochromatosis
1University of Washington, Seattle 98195, USA. agmot@u.washington.edu
Insights
Hemochromatosis, an inherited iron overload disorder, is common in Europeans but often overlooked. Early detection and treatment are crucial to prevent serious health complications like liver disease and diabetes.
Area of Science:
- Genetics and Hereditary Diseases
- Gastroenterology and Hepatology
- Endocrinology
Background:
- Hemochromatosis is a prevalent autosomal recessive disorder affecting iron metabolism.
- It leads to excessive iron accumulation, potentially causing severe organ damage including liver cirrhosis, cancer, heart disease, arthritis, and diabetes.
- The condition is treatable but frequently undiagnosed, with higher prevalence in males.
Purpose of the Study:
- To review the current understanding of hemochromatosis.
- To discuss the implications of population screening for early detection.
- To address concerns regarding diagnostic uncertainty and potential discrimination.
Main Methods:
- Review of existing literature on hemochromatosis prevalence, clinical manifestations, and treatment.
- Analysis of recommendations from previous consensus conferences regarding screening.
- Discussion of ethical considerations related to genetic testing and discrimination.
Main Results:
- Hemochromatosis affects 1/200-1/400 individuals of European descent.
- While treatable, the full spectrum of clinical disease in homozygotes requires further investigation.
- Screening family members of affected individuals is widely accepted, but population-wide screening remains debated due to uncertainties.
Conclusions:
- Despite being easily treatable, hemochromatosis is often overlooked, leading to severe health consequences.
- Further research on the clinical spectrum of the disease is needed to inform future screening policies.
- A future consensus conference is recommended to establish appropriate case detection and management strategies.
Abstract:
Hemochromatosis is a common autosomal recessive condition found in the homozygous state in 1/200-1/400 people of northern-, central-, and western-European origin. It causes increased iron storage, which may lead to liver cirrhosis, liver cancer, heart disease, arthritis, and diabetes in many but not all affected adults, with a higher frequency in males. The condition is easily treated by repeated venesections without side effects but is frequently overlooked. Population screening of adults using iron indices alone or combined with DNA testing has therefore been recommended, but a consensus conference in 1997 recommended that such screening be deferred, owing to uncertainty regarding the extent of clinical disease that may develop in individuals detected by such programs. There was also concern that DNA screening results might be used for discrimination in insurance and occupational settings. Screening family members of patients with evidence of definite iron loading, however, is accepted by all observers. Because serious complications may be overlooked, a more aggressive stance toward case detection in the adult population has been advocated by some observers, realizing that unnecessary treatment might occur. Because additional information regarding the spectrum of clinical disease in homozygotes in now accumulating, a consensus conference in the near future is suggested to consider appropriate policies.
