Haemophilia is (A) An infectious disease (B) A sex-linked disease (C) Caused by malnutrition (D) None of the above

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Points to Remember:

  • Haemophilia’s genetic basis.
  • Its inheritance pattern.
  • Distinction from infectious and nutritional deficiency diseases.

Introduction:

Haemophilia is a rare, inherited bleeding disorder. It’s characterized by a deficiency in certain clotting factors in the blood, leading to prolonged bleeding even from minor injuries. Unlike infectious diseases like influenza or measles, which are caused by pathogens, haemophilia is a genetic condition. Similarly, it’s not caused by malnutrition, which results from inadequate nutrient intake. The question asks us to identify the correct classification of haemophilia from the given options. This requires a factual approach, focusing on the established understanding of the disease’s etiology and inheritance.

Body:

1. Haemophilia as a Sex-Linked Disease:

Haemophilia A and B are primarily sex-linked recessive disorders. This means the defective gene responsible for the condition is located on the X chromosome. Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY). A female needs two copies of the defective gene (one on each X chromosome) to have haemophilia, while a male only needs one copy on his single X chromosome to be affected. This explains why haemophilia is significantly more common in males. The inheritance pattern follows Mendelian genetics, with affected mothers having a 50% chance of passing the defective gene to their sons.

2. Distinguishing Haemophilia from Infectious and Nutritional Deficiency Diseases:

  • Infectious Diseases: These are caused by pathogenic organisms like bacteria, viruses, fungi, or parasites. Haemophilia has no infectious component; it’s not contagious and cannot be transmitted from one person to another through contact or bodily fluids (except through blood transfusions before screening was implemented).

  • Nutritional Deficiency Diseases: These arise from inadequate intake or absorption of essential nutrients. Examples include scurvy (vitamin C deficiency) and rickets (vitamin D deficiency). Haemophilia is not related to diet; it’s a genetic disorder stemming from a faulty gene, not a lack of nutrients.

Conclusion:

In summary, haemophilia is not an infectious disease or a consequence of malnutrition. Its primary characteristic is its sex-linked inheritance pattern, primarily affecting males due to the location of the defective gene on the X chromosome. Therefore, the correct answer is (B) A sex-linked disease. Understanding the genetic basis of haemophilia is crucial for accurate diagnosis, genetic counselling, and the development of effective treatment strategies, including gene therapy which holds promise for future cures. Further research and advancements in genetic technologies continue to improve the quality of life for individuals affected by this condition, emphasizing the importance of ongoing scientific progress in addressing genetic disorders.

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