Haemophilia is :-[Bihar 2001]a)deficiency disorderb)male sex disorderc)female sex disorderd)autosomal sex disorderCorrect answer is option 'C'. Can you explain this answer?

Question

Accepted Answer

Haemophilia is:
Definition:
- Haemophilia is a medical condition characterized by a deficiency or absence of a clotting factor in the blood, leading to excessive bleeding and poor blood clotting.
Cause:
- Haemophilia is usually an inherited disorder caused by a mutation in one of the genes responsible for clotting factors VIII (haemophilia A) or IX (haemophilia B).
- In rare cases, haemophilia can also occur due to spontaneous mutations.
Mode of Inheritance:
- Haemophilia is an X-linked recessive disorder, which means that the faulty gene responsible for the condition is located on the X chromosome.
- As a result, haemophilia is more common in males because they have one X chromosome, while females have two X chromosomes.
Signs and Symptoms:
- Excessive bleeding from minor cuts or injuries
- Frequent nosebleeds
- Easy bruising
- Prolonged bleeding after surgery or dental procedures
- Joint pain and swelling (hemophilic arthropathy) due to recurrent bleeding into the joints
- Blood in urine or stool
Diagnosis:
- Haemophilia can be diagnosed through blood tests that measure the levels of clotting factors VIII and IX.
- Genetic testing can also be done to identify the specific mutation causing haemophilia.
Treatment:
- There is no cure for haemophilia, but it can be managed through various treatment options, including:
- Replacement therapy: Infusing the missing clotting factor into the bloodstream to restore normal clotting.
- Desmopressin (DDAVP): A medication that stimulates the release of stored clotting factor VIII from blood vessels.
- Gene therapy: Experimental treatment that aims to replace the faulty gene responsible for haemophilia with a functional one.
Conclusion:
- Haemophilia is a deficiency disorder characterized by the absence or deficiency of clotting factors in the blood.
- It is an X-linked recessive disorder, more commonly affecting males.
- Diagnosis is done through blood tests and genetic testing.
- Treatment options include replacement therapy, medications, and gene therapy.

Answer

Haemophilia is an X linked recessive disease.... If the gene is present on both the X chromosome the female dies very early.... Since it is a recessive disease the heterozygous would survive but females(because they only possess 2 X chromosome) it is fatal for them... Thats why it is female sex disorder

Answer

Haemophilia is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding longer after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain.

Treatment: Replace missing blood clotting factors

Causes: Usually genetic

Symptoms: Easy and prolonged bleeding

Frequency: 1 in 7,500 males (haemophilia A), 1 in 40,000 males (haemophilia B)

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