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Question

A female carrier for hemophilia A gene gets married to a genetically normal male. What are the chances of her delivering a male offspring with hemophilia?

The correct answer is
50%

Hemophilia A Inheritance Probability

This question requires understanding the principles of X-linked recessive inheritance.

Understanding Hemophilia A

Hemophilia A is an X-linked recessive disorder. This means the gene causing it is on the X chromosome. Males have XY chromosomes, and females have XX. A male with one affected X chromosome will express the disorder. A female must have the affected gene on both X chromosomes to be affected, but can be a carrier if she has it on only one.

Genetic Cross Setup

  • Mother: Carrier for hemophilia A. Her genotype is $XHXh$, where $XH$ represents the normal allele and $Xh$ represents the hemophilia allele.
  • Father: Genetically normal male. His genotype is $XHY$.

Calculating the Chance for Male Offspring

To find the probability of having a male offspring with hemophilia, we need to consider the chromosomes passed from each parent to a son:

  • A son inherits the Y chromosome from his father.
  • A son inherits one X chromosome from his mother.

The mother ($XHXh$) can pass either her $XH$ allele or her $Xh$ allele to her offspring.

  • If she passes $XH$, the son's genotype is $XHY$ (normal).
  • If she passes $Xh$, the son's genotype is $XhY$ (affected with hemophilia).

Since the mother has a 50% chance of passing on the $Xh$ allele, the probability that her male offspring will have hemophilia is 50%.

Punnett Square Analysis

$XH$ $Xh$
$XH$ (from Father) $XHXH$ (Normal Female) $XHXh$ (Carrier Female)
$Y$ (from Father) $XHY$ (Normal Male) $XhY$ (Affected Male)

The Punnett square shows the possible genotypes of the offspring. For male offspring (inheriting Y from the father), the possibilities are $XHY$ (normal) and $XhY$ (affected). Each has an equal probability, leading to a 50% chance of an affected male.

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Important Questions from Coagulation Disorders

  1. Which one of the following investigations is NOT appropriate in a case of recurrent thrombosis?
  2. All of the following are causes of reactive thrombocytosis, EXCEPT:
  3. Cryoprecipitate cannot be used for treatment of which one of the following conditions?
  4. A young primigravida with 11 weeks pregnancy presents with sudden onset pain and swelling of left lower limb. Homan's sign is positive. Duplex ultrasonogram shows non- compressibility of veins in the affected region, with absent flow. The drug of choice for treatment is:

  5. Which of the following conditions are associated with prolonged prothrombin time?
    1. Factor VIII deficiency
    2. Factor VII deficiency
    3. Heparin anticoagulation
    4. Warfarin anticoagulation
    Select the correct answer using the code given below:
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