Which of the following is an example of genetic disease?

Appeared in: UPPSC 2023

Explanation

Hemophilia is a well-known inherited genetic disorder.
It is caused by a mutation in the genes on the X chromosome that are responsible for producing clotting factors (Factor VIII for Hemophilia A, Factor IX for Hemophilia B).
The condition is passed down from parents to children through an X-linked recessive inheritance pattern, making it significantly more common in males.

Option A: Typhoid fever is not a genetic disease. It is an infectious disease caused by the bacterium Salmonella Typhi.
Option B: Tuberculosis (TB) is an infectious disease caused by the bacterium Mycobacterium tuberculosis, not a genetic disorder.
Option D: Appendicitis is the inflammation of the appendix, typically due to a blockage and subsequent infection. It is an acute inflammatory condition, not a genetic disease.

Clinical Relevance

Nursing practice connection: Knowing Differentiation between Genetic and Infectious/Inflammatory Diseases helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Nurses are central to managing hemophilia by administering factor replacement therapy, educating on bleed prevention, and providing care during acute bleeding episodes.
Patient education is a critical nursing role, focusing on recognizing early signs of a bleed (like a warm, tingling sensation in a joint), managing injuries with RICE (Rest, Ice, Compression, Elevation), and avoiding medications like aspirin that increase bleeding risk.
What if? If a female patient presents with a history of heavy menstrual bleeding and easy bruising, and has a family history of bleeding disorders, a nurse should recognize the possibility of her being a symptomatic carrier of hemophilia. Factor level testing would be warranted.

How to Approach the Question

First, define the key term in the question: 'genetic disease'. This is a condition caused by an abnormality in an individual's DNA, often inherited from parents.
Next, systematically evaluate each option against this definition.
Analyze 'Typhoid Fever' and 'Tuberculosis'. Recall that these are caused by bacteria, making them infectious diseases, not genetic.
Analyze 'Appendicitis'. Recall that this is an inflammation of an organ, usually due to a blockage or infection, not an inherited trait.
Analyze 'Hemophilia'. Recall that this is a well-known inherited disorder affecting blood clotting.
Conclude that Hemophilia is the only option that fits the definition of a genetic disease.

Concept Tested & Keywords

Concept Tested: Differentiation between Genetic and Infectious/Inflammatory Diseases
Stem keywords: genetic disease
Lead-in keywords: example of
Negative lead-in flag: false

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E6 Parks TextBook of Preventive & Social Medicine part 2 — Subpart B (pp 233-449 of 464) p. 141-143

E6 Nelson Textbook of Pediatrics(2024) — Volume 2 p. 824-826

Practise the full UPPSC 2023

Attempt every question from this paper in a timed mock, then review the full solution for each one.