Genetic Diseases

The most striking single-factor characteristic are those associated with

inherited defects such as sickle-cell anaemia, haemophilia, cysticfibrosis, and
colour blindness.
These four diseases are caused by recessive genes. It follows that people
who develop the disease must have received both recessive alleles, one from
each of their parents.
The Genetic Diseases :
1. Albinism
An albino lacks a gene for producing the pigment melanin. As a result
the iris of the eye is pink, the hair is white or very pale yellow, and the skin is
unpigmented and easily damaged by sunlight. The albinism allele is
recessive to the pigment-producing allele.
2. Haemophilia
Haemophilia is a genetic disease in which blood clots very slowly. The
blood of people with the disease lacks one of the plasma proteins called
factor VIII, which plays a part in clotting. The production of factor VIII is
controlled by a single gene. A person who lacks this gene will be a
haemophiliac. Quite minor cuts tend to bleed for a long time and internal
bleeding may occur.
Although haemophilia is a genetically controlled disease, symptoms
vary from mild to severe in different individuals. The condition can be largely
controlled by daily or weekly injections of factor VIII.

3. Cystic fibrosis
Cystic fibrosis is the commonest inherited disease in white people, affecting
about one in every 2500 children. The disease occurs when a person inherits
two copies of a recessive allele which controls the production of a protein in
cell membranes. The protein normally controls the passage of chloride ions
across the membrane but is defective in homozygous recessive individuals.
As a consequence, the epithelial cells lining the respiratory passage and

digestive glands produce a thick, sticky mucus which makes the person very
susceptible to infections and interferes with digestion.
Trials are taking places, with genetically engineered genes, which may
alleviate the condition.
4. Huntingtons Disease
Unlike the disease described above, Huntingtons disease is caused by a
dominant allele and can therefore be passed on from the one parent who has
the disorder. However, the gene is not expressed until the carrier reaches
middle age. Thus, although persons carrying the gen will eventually develop
the disease, they may have passed the gene on to 50 per cent of their
children before they were aware of the condition.
The disease is rare, affecting about 1 person in 10000.
It is characterized by a progressive deterioration in mental and physical
faculties.
Because the allele is dominant, and because the phenotypic symptoms do
not appear until after reproductive age, members of families in which the
disease has occurred may choose not to have children.