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Genetic Lingo

Genetic Lingo

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

Jaundice

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...

Huntington Disease l: Introduction

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

Disorders of Erythrocytes

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
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...

Portal Hypertension

Portal Hypertension

Portal hypertension is an increase in blood pressure within the portal venous system. Normally, this pressure is less than 5 mmHg. It is considered clinically significant when it rises above 10 mmHg. At this threshold, complications from altered blood flow and venous congestion emerge.EtiologyPortal hypertension arises from conditions that impede blood flow through the liver. The most common cause is cirrhosis, in which chronic liver injury leads to fibrotic scarring. This fibrosis narrows or...

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Updated: May 14, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Hereditary hemochromatosis.

Brian K Crownover¹, Carlton J Covey

¹Nellis Family Medicine Residency, Nellis Air Force Base, NV, USA.

American Family Physician

|February 20, 2013

Summary

Hereditary hemochromatosis, the most common genetic disorder in whites, disrupts iron regulation. Diagnosis involves elevated ferritin and transferrin saturation, with phlebotomy as the primary treatment.

Area of Science:

Genetics
Gastroenterology
Endocrinology

Background:

Hereditary hemochromatosis is an autosomal recessive disorder affecting iron regulation, most prevalent in individuals of Northern European descent.
Men exhibit a significantly higher incidence of iron overload compared to women.
The C282Y mutation in the HFE gene is responsible for 85-90% of hereditary hemochromatosis cases.

Purpose of the Study:

To provide a comprehensive overview of hereditary hemochromatosis, including its genetic basis, clinical manifestations, diagnostic approaches, and management strategies.
To highlight the importance of early diagnosis and appropriate treatment to prevent end-organ damage.

Main Methods:

Diagnosis relies on elevated serum ferritin and transferrin saturation levels, confirmed by genetic testing for HFE gene mutations.

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Last Updated: May 14, 2026

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Serum ferritin levels serve as a key prognostic indicator of disease severity.

Liver biopsy may be utilized for staging fibrosis or diagnosing nonclassical forms of the disease.

Main Results:

Clinical manifestations, including arthralgias, cirrhosis, and diabetes, occur in about 10% of homozygous C282Y individuals.
Phlebotomy is the cornerstone of treatment, with frequency adjusted based on serial ferritin and transferrin saturation monitoring.
Dietary changes are generally not required, and universal screening is not recommended.

Conclusions:

Hereditary hemochromatosis requires lifelong management, primarily through phlebotomy, to prevent complications.
Testing is recommended for first-degree relatives of affected individuals and those with abnormal iron studies.
Screening for hepatocellular carcinoma is indicated for patients with hereditary hemochromatosis and cirrhosis.