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Hereditary hemochromatosis.
1Clinical Nurse Specialist, Department of Genetics, Divisions of Patient Services and Human Genetics, Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. prowc0@chmcc.org
The Nursing Clinics of North America
|August 25, 2000
Summary
Hereditary hemochromatosis (HH), an iron overload disorder, is underdiagnosed but preventable. Early DNA testing identifies at-risk individuals, enabling nurses to prevent severe health complications.
Area of Science:
- Genetics
- Internal Medicine
- Nursing Education
Background:
- Hereditary hemochromatosis (HH) is an autosomal recessive iron overload disorder affecting over one million Americans.
- HH is underdiagnosed, leading to significant morbidity and mortality.
- Early identification and treatment can prevent severe health consequences.
Purpose of the Study:
- To highlight the importance of current knowledge of HH for nurses.
- To emphasize the role of nurses in educating at-risk individuals about genetic testing.
- To underscore the nursing role in preventing chronic illness and premature death from HH.
Main Methods:
- Review of current literature on Hereditary Hemochromatosis.
- Analysis of the diagnostic capabilities of genetic testing for HH.
- Assessment of the nursing implications for patient education and care.
Main Results:
- A commercial DNA test can identify asymptomatic individuals at risk for HH before biochemical markers appear.
- Nurses require updated knowledge to effectively counsel patients on genetic testing for HH.
- Early intervention through nursing guidance can mitigate the risks associated with HH.
Conclusions:
- Nurses play a crucial role in the early identification and management of Hereditary Hemochromatosis.
- Comprehensive patient education by nurses is vital before genetic testing.
- Enhanced nursing knowledge of HH can prevent chronic morbidity and mortality.