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Haemophilia

Edexcel A-level BiologyGenetic InformationLesson 30 of 30

Haemophilia is a sex-linked condition in which the blood does not clot properly. A person with haemophilia bleeds for longer after an injury and may have internal bleeding into joints and muscles, which can cause pain and joint damage.

Blood clotting depends on a cascade of proteins called clotting factors. The genes for two of these are on the X chromosome. Haemophilia A, the most common form, is caused by a faulty allele for factor VIII. Haemophilia B is caused by a faulty allele for factor IX.

Haemophilia is X-linked recessive. Using XH for normal clotting and Xh for haemophilia, affected males are XhY, carrier females are XHXh, and affected females would be XhXh, which is very rare.

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Key terms in this lesson

carrier
A heterozygous individual who carries a recessive allele for a condition without showing it themselves.

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