G6PD deficiency is classified in the following trait?

RUHS, Jaipur, M.Sc Nursing Entrance Exam-2015

Pathology & Genetics

Easy

Appeared in: RUHS, Jaipur, M.Sc Nursing Entrance Exam-2015

Explanation

G6PD deficiency is an X-linked recessive disorder, meaning the gene responsible for the enzyme is located on the X chromosome.
Males (XY) are more frequently affected because they have only one X chromosome. A single copy of the altered gene is enough to cause the condition.
Females (XX) are typically carriers. They have two X chromosomes, so the normal gene on one X chromosome usually compensates for the defective one on the other, though some may experience mild symptoms.

Option A: This pattern affects males and females equally and requires only one copy of the mutated gene to express the trait. G6PD deficiency primarily affects males.
Option B: In X-linked dominant inheritance, an affected father passes the trait to all of his daughters. This is not the inheritance pattern of G6PD deficiency.
Option C: This pattern requires two copies of the mutated gene (one from each parent) and affects males and females equally. G6PD deficiency is linked to the X chromosome.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Genetic inheritance pattern of G6PD deficiency as background academic context rather than a clinical decision trigger.
Patient education is a primary nursing responsibility. For G6PD deficiency, this involves teaching avoidance of triggers like fava beans, naphthalene (mothballs), and specific drugs (e.g., sulfonamides, primaquine) to prevent hemolytic crises.
Nurses must be vigilant in monitoring at-risk patients for signs of acute hemolysis (jaundice, pallor, dark urine), especially after infections or administration of new medications.
Genetic counseling is important. Nurses can facilitate referrals and help families understand the inheritance pattern, especially regarding the risk to male offspring from a carrier mother.

How to Approach the Question

First, identify the core of the question, which is asking for the specific genetic inheritance pattern of G6PD deficiency.
This is a factual recall question that relies on your knowledge of common genetic disorders.
Mentally review the definitions of the four main inheritance patterns provided in the options: Autosomal Dominant, X-linked Dominant, Autosomal Recessive, and X-linked Recessive.
Recall key characteristics of X-linked disorders, primarily that they affect males significantly more often than females.
Connect this characteristic to your knowledge of G6PD deficiency, which is a classic example of an X-linked condition that predominantly affects males.
Based on this, eliminate the autosomal options. Differentiate between dominant and recessive X-linked patterns, remembering that for recessive traits, females are typically carriers, which matches the epidemiology of G6PD deficiency. Select 'Recessive x linked' as the correct answer.

Concept Tested & Keywords

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