Question

disease phenotype and medication in genetics ( write a review on it more than 800 words) Please answer the question only if you can observe the minimum limit of 800 words. Thank you

Answer 1

Genetics,a discipline of biology,is the science of heredity and hereditary variations in living organisms.The word 'genetics' is derived from the Greek word genesis,which means 'origin of anything'or 'a begging'.The term genetics was coined by W.Bateson.Genetics deals with the patterns of inheritance from the parent to offspring,gene distribution,variation and change in population.

Haemophilia: It is a recessive X-linked genetic disorder involving lack of functional clotting factor-VIII(antihemophilic factor) and represents 80% of haemophilia cases.Haemophilia B is also a recessive x-linked genetic disorder involving lack of the functional clotting factor IX .When a person with haemophilia is injured,bleeding is prolonged because a firm clot is slow to form.

Natural clotting time is 3 to 8 minutes.but in these disorder clot does not occur.Bleeding takes place in the bones and brain,it is a rare and hereditray disorder.Haemophilia A caused by deficiency of clotting factor VIII and B is due to clotting factor IX.Haemophilia C is an autosomal recessive disorder involving lack of the functional factor IX. It's also called blender's disease.In this disease,a single protein that is a part of the cascade of reactions involved in the clotting of blood is affected.It is more likely to occur in males than females.This is because females have two x-chromosomes while males have only one,and so the defective gene on the X will certainty express in the male who carries it.As it is caused by a recessive allele on the x-chromosome,a female human being has to be double recessive to express haemophilia.Because the chance of a female having two defective copies of the gene is very remote ,the females are mostly asymptomatic carriers of the disorder.The family pedigree of Queen Victoria shows a number of haemophilia descendents,as she was a carrier for the disease.

• Delaying of blood clot
• Thrombin formation doesn't takes place
• Bleeding gums
• Bleeding into the bones,skin&knees etc..,
• Blood stools and blood in urine
• Hematoma occurs due to haemophilia

Medication: There is no proper treatment for this,for to treat this we are giving blood clotting factors to them through intravenousClotting promoters like antihemophilic factor and clotting factor iv is given to them to treat for this disease..

After observing the above characteristics one must go to an hematologist and take the clotting factors to stop internal and external bleeding.