Genetic diseases



albinism in humans Photo Albinism in humans manifests itself in the absence of normal pigmentation of the skin, hair and iris.This anomaly is a hereditary trait, depending on the presence of recessive genes suppressed in the homozygous state.Albinism is a man often referred to as hypopigmentation.The disease is considered to be very rare disorders and in different countries, the different.For example, in the US and Europe was detected in five people per 100,000, and in Nigeria, every 20th of the disease per 100,000 name comes from the Latin, meaning white.Most parents of children with this genetic disorder have no signs of albinism and have normal hair color and eyes.Parents of children with albinism need to be careful and time to see a doctor when unusual bruising and bleeding.

Albinism causes

Albinism a person performs a hereditary condition that is inherent from birth.This condition is marked lack of melanin - the pigment responsible for skin color, hair and eye color.

Albinism and the causes associ

ated with the absence or blockage of the enzyme tyrosinase.This people-parents are albino child can transfer this feature and do not get sick.Tyrosinase enzyme is important for the production of melanin.In Greek means black melanin.The more melanin, the darker the human skin.If problems with production of tyrosinase is not, then the cause of albinism - a mutation in the genes.

skin of healthy people have melanin, albinos but it is not.However, some healthy people have a much greater amount of melanin in comparison with others.Particularly affected by this girl chasing a tan and beauty in summer.And what to do albino?Parents are important to a child explain to a child that he did not like everything, but unique.And this is his charm and personality.Child, it is important to surround the attention, love and care, and at puberty to protect against attacks and to teach teenagers to resist evil from society.If difficult to cope on their own, it is necessary to resort to the help of professionals - psychologists, because albino teenager may arise autoaggression, depression, neurosis, psychosis.

There are different types of albinism in humans and each of them in varying degrees associated with a lack of pigment.This state is able to be accompanied by a variety of vision problems and sometimes provoke skin cancer.

Albinism inherited child if both parents gave him a defective gene.In the presence of the gene in one parent disease does not occur, but is present in the body mutated gene, which is transmitted to the next generation.This process gave the name of autosomal recessive inheritance.

signs of albinism Albinism

, being a hereditary condition caused by a change in a single gene or a few.These genes are taking responsibility for the management of production, as well as the concentration of melanin in the iris itself, and of course the skin.So people have different vision problems: farsightedness, nearsightedness, astigmatism (curvature of the lens of the eye).Patients are able to observe involuntary, continuous movement of the eyeball called nystagmus.Albinistov skin is pale pink shade through which easily translucent capillaries and hair thin and very soft, with a white or yellowish color.

Symptoms are expressed in the problems of albinism eye coordination, as well as tracking and fixation of objects.In cases may decrease the depth of vision, can occur photophobia.

In most cases there is no melanin in the skin, which causes sunburn and the inability to tan.If the skin is not protected, then eventually able to develop skin cancer.

oculocutaneous albinism .This type of albinism in humans is the most common.In severe forms of albinism skin and hair quite white preserved forever.Holders of less severe forms of life in the white hair and skin a little darker, which is associated with the aging process.Sick oculocutaneous with albinism can suffer from nystagmus (annoying ciliary eye movements, as well as increased sensitivity to light).Sometimes there are other eye problems (poor eyesight, strabismus).

Ocular albinism .This type of a person is the second most common.Ocular albinism is manifested in the absence of pigmentation of the iris it.The skin color and hair while maintaining normal.Certain types of ocular albinism cause a lot of problems with his vision.

Albinism emit three types: total, partial, fragmentary.

totality Albinism is characterized by dryness of the skin, the presence of diseases (hypertrichosis, keratome, hypotrichosis, actinic cheilitis, epithelioma), violation of sweating and rapid combustion (sunburn).Patients marked strabismus, cataracts, microphthalmia, poor vision, mental retardation, immune deficiency, decrease in life expectancy.People suffer from horizontal nystagmus, photophobia, and since there is no pigment in the pupils, the eyes are red.

Partial albinism occurs only hypopigmentation of hair, skin, eye iris.

Partial albinism seen since birth.For this kind of characteristic symptoms of brown spots or pigmentation color on the abdomen, face, legs, a gray-haired pryadok hair color.Diagnosis of the disease

very difficult to diagnose the presence of the mutated gene in humans.It is necessary to thoroughly investigate the family history and the next of kin.There is a specially developed blood test that allows to identify some types of albinism.A similar study carried out in utero baby.

fifth week of pregnancy allows you to test Chorionic villus, which will define some types of albinism.

Albinism treatment

treatment of albinism in humans unsuccessfully, as it is impossible to fill the shortage of melanin or prevention of disorders provoked by albinism.

longitudinal patient should avoid exposure to the sun, and before the actual access to the street to use dimming products - creams, lotions, sunglasses.In hot weather it should be possible to sit at home.Sometimes appointed in strabismus surgery to correct the eye muscles.

But emerging changes in the pathological level in the nerves and the retina is often not possible to eliminate.Partial and total form of albinism to give the skin a yellow tint adjusted beta-carotene (up to 180 mg per day).

As a preventive measure to prevent transmission of genetic abnormalities are required genetic counseling, visits to the neurologist, dermatologist, ophthalmologist.

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