An inherited sex-linked bleeding disorder is?

HPSSC - 2015

Pathology & Genetics (E5)

Easy

Appeared in: HPSSC - 2015

Explanation

Haemophilia is a genetic bleeding disorder caused by a defective gene on the X chromosome, making it a sex-linked condition.
It is characterized by a deficiency of specific blood clotting factors, primarily Factor VIII (Haemophilia A) or Factor IX (Haemophilia B).
Due to its X-linked recessive inheritance, the disorder almost exclusively affects males, while females are typically asymptomatic carriers.
The primary clinical feature is prolonged and excessive bleeding, either spontaneously or after minor trauma.

Option B: Thalassemia is an inherited blood disorder, but it is an autosomal recessive condition, not sex-linked. It primarily causes anemia due to defective hemoglobin production, not a clotting deficiency.
Option C: Purpura refers to the symptom of purple spots on the skin due to bleeding from small blood vessels. It is not a specific inherited disease itself and is not sex-linked. It can be a sign of various conditions, including platelet disorders or vasculitis.
Option D: Sickle cell disease is an autosomal recessive disorder, not sex-linked. It is a hemoglobinopathy that causes red blood cells to become sickle-shaped, leading to anemia and vaso-occlusion, not a primary bleeding disorder.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Inheritance patterns of common hematological disorders as background academic context rather than a clinical decision trigger.
Nurses must implement bleeding precautions for patients with haemophilia, such as using soft-bristled toothbrushes, avoiding intramuscular injections, and applying prolonged pressure to puncture sites.
Patient education is a key nursing role, focusing on recognizing signs of internal bleeding (especially in joints), managing minor bleeds with RICE (Rest, Ice, Compression, Elevation), and understanding the importance of factor replacement therapy.
Genetic counseling is crucial for families with a history of haemophilia. Nurses can help facilitate referrals and provide support to carriers and affected individuals.

How to Approach the Question

First, break down the question into key components: 'inherited', 'sex-linked', and 'bleeding disorder'.
Evaluate each option against these three criteria.
Recall or deduce the inheritance pattern for Haemophilia. It is a classic example of a sex-linked (X-linked) disorder.
Confirm that Haemophilia is a bleeding disorder (due to clotting factor deficiency). This matches all criteria.
Analyze the other options. Thalassemia and Sickle cell disease are autosomal recessive, not sex-linked.
Recognize that Purpura is a symptom, not a specific inherited disease, and the term 'Purport' is a likely typo for it.

Concept Tested & Keywords

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