Haemophilia A:- the recessive allele expresses an altered protein that does not function, which leads to an increase in blood clotting time. Internal bleeding and into joints is particularly harmful
males have only one x chromosome and if it has the allele for haemophilia A, they will be sufferers. These males are hemizygous - they have only one allele for the characteristic
- 50% of males will suffer from a carrier mother and normal father
Sickle Cell Anaemia:- mutation of the beta strand of haemoglobin by valine instead of glutamic acid at codon 6.
When abnormal haemoglobin is deoxygenated, it becomes crystallin and more linear. This deforms the red blood cell making them inflexible and unable to squeeze through capillaries. After many cycles, cells become irreversibly sickled/destroyed. if they becomes ladged in capillaries, blood flow is impeded. Organs and bones don't recieve enoguh oxygen leading to painful crisis. THe heart, lungs and kidneys get damaged particularly.
It is a recessive disease but codominant allele - in heterozygotes, red blood cells are made half sickled, half normal so it prevents the cell sickling
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