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Updated: Oct 13, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
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
Abstract:
Hereditary hemochromatosis (HH) is an autosomal recessive iron overload disorder that affects more than one million Americans. This underdiagnosed disorder is associated with high morbidity and mortality, which can be prevented with early identification and treatment. A DNA test that can identify asymptomatic at-risk individuals before biochemical indicators are positive is available commercially. Nurses need current knowledge about HH for two main reasons: (1) to ensure that at-risk individuals receive comprehensive information before genetic testing, and (2) to play a significant role in preventing chronic morbidity and premature death caused by HH.
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Disorders of Erythrocytes
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
