albinism or leprosy; Everything about this rare disease

Albinism (Albinism) is a special and rare disease that is caused in humans and although it does not cause the risk of death for a person, it causes difficulties and hardships. brings for the patient. However, what information is available about the causes of this disease? Can leprosy be treated? Is this disease a genetic disorder and complication?

BingMag.com albinism or leprosy; Everything about this rare disease

Albinism (Albinism) is a special and rare disease that is caused in humans and although it does not cause the risk of death for a person, it causes difficulties and hardships. brings for the patient. However, what information is available about the causes of this disease? Can leprosy be treated? Is this disease a genetic disorder and complication?

Zali disease can actually occur in any person. However, it seems that this rare disease, while being a genetic disorder, is also considered a race-related disorder. This means that people in different regions of the world have different chances of getting leprosy. For example, in South Africa, only one out of every 5,000 people gets leprosy. If the same statistics are different in the United States, one out of every 20,000 thousand people will suffer from this disease. As mentioned, Zali's disease is considered a genetic disorder, but it is interesting to know that the chances of getting it are not the same between men and women. Researchers and researchers have estimated that one out of every seventy people is a carrier who carries the cause of this disorder with him; A factor that is actually a genetic mutation.

Definition of leech disease

Leech is a hereditary disease that, due to a genetic mutation, produces a substance called melanin in the body to the lowest level. may arrive Melanin is actually responsible for the blackening of the skin, hair and eyes. Leprosy is one of the few rare diseases that clearly affects a person's appearance; Because Zaal people usually have extremely white and light skin and hair compared to other members of the society. Visual problems are also seen in most of these people. However, is melanin used to the same extent in the human body?

Melanin is like a protective shield that protects the human skin against the ultraviolet rays of the sun. Therefore, pale people should not be continuously exposed to sunlight; Because the risk of developing dangerous skin diseases, especially skin cancer in this group of people increases drastically during adolescence.

Types of leech disease

Leech is classified into two general categories. Ocular Albinism, which is abbreviated as OA in various texts, involves the visual system and eyes. The second type is known as oculocutaneous albinism or OCA for short, which affects the eyes, skin and hair as well. The OCA type of louse has been researched by researchers and until this moment, various subgroups of this type have been identified and introduced by researchers. Depending on the genes affected by the zalli mutation, one can expect to see a specific subgroup of OCA. The seven most important subtypes of OCA are as follows:

  • OCA Type 1: People usually have milky white skin, hair They have white and blue eyes. With age, it is possible for patients' skin and hair to become darker. OCA type 2 occurs more often in Africans, biracial African Americans, and some Native American communities.
  • OCA Type 3: Visual problems in this Zali type is usually less than other modes. Type 3 alopecia is more common in black South Africans.
  • OCA Type 4: This model is the most common type of alopecia among the Middle Eastern population. There is a lot of similarity between type 4 and type 2.
  • Visual atrophy linked to the chromosome X: as the name suggests. Turns out, a genetic mutation on the X chromosome causes this type of leech. This type of disease is more common in men. Vision problems still persist, but usually the color of eyes, hair and skin is similar to other normal people in the society. Common in Puerto Rico. The symptoms of this type are almost similar to OCA leech disease, but various other diseases related to the intestines, heart, kidneys and lungs are more likely to be found in this group of people. Also, dangerous diseases such as hemophilia are likely to occur in this type.
  • Chediak-Higashi syndrome: This type of complication is an extremely rare disorder among other subtypes of leech. CHS1 gene mutation can cause Chediak-Higashi syndrome. Some of the symptoms of this syndrome are similar to those of OCA, but in a strange but interesting incident, skin color and hair color can be somewhat different in this group of people. For example, it is possible that a person's hair is silver and on the other hand, his skin is light gray. In this group of people, white blood cells also experience defects. Therefore, people who struggle with this syndrome are highly susceptible to infectious diseases.

Symptoms Leech disease

BingMag.com albinism or leprosy; Everything about this rare disease

As already mentioned in a very general way about the symptoms of Leech disease, in Leech disease Disorders are created that negatively affect a person's skin, hair, eye color and, of course, vision. We will review each of these sections together:

Skin

The most obvious symptom of leech disease is very light skin, which in fact, may not occur in all types of leech. It is interesting to know that in some people, the level of melanin gradually increases with age and the color of the skin finally reaches a level that is similar to other people.

As mentioned before, the skin Patients can easily get sunburned. However, usually the outer skin tissue of the body surface will not tan. It is also possible for people to face spots or moles on the surface of the skin after repeated exposure to sunlight. The skin moles of Zal patients are usually pink in color; Because the black color of the mole in normal humans is due to the presence of a high level of melanin. To prevent skin cancer, zal patients should use sunscreens with SPF of at least 20. Also, if an abnormal mole or spot has formed on their skin, they should show it to the doctor as soon as possible. Because the hair color in this disease ranges from white to brown. This is often related to race; Because Asian or African people usually have yellow, brown or even red hair. With age, it is possible for the hair color to gradually become darker. This is not certain.

Eye color

Eye color is another important category in patients with alopecia that can change with age and change from very light blue to brown. . The low amount of melanin in the iris means that the tissue of the eyeball can also be damaged by direct sunlight. This phenomenon is called photosensitivity. This means that the iris cannot completely block the sunlight from entering the deep tissue of the eye. Because of this, leprosy patients are sensitive to light.

Vision

All types of leprosy, depending on their type, have a negative effect on vision. It is also possible that the function of the eye will undergo changes; Changes that can be classified into eight words:

  • Nystagmus: Eyes move quickly and uncontrollably back and forth.
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  • Strabismus: the eyes are not aligned with each other.
  • Amblyopia: is the scientific and medical term for eye laziness.
  • Myopia or hypermetropia: A person can suffer from extreme nearsightedness or farsightedness.
  • Photophobia: Eyes are usually very sensitive to light.
  • Hypoplasia of the optic nerve: Vision disorders occur because the number one nerve of a brain pair, vision, has not reached its final development during the fetal period.
  • Wrong branching. Optic nerve: Nerve messages are sent from the retina to the brain, but through an unusual nerve pathway.
  • Astigmatism: An inflexible abnormality in the front surface of the eye or It is the lenses that cause the patient to see blurry.

The solution to treat the vision problems of Zali's disease

Zali's patients In order to reduce vision complications, they can attach special lenses to their glasses. Also, if these people work with computer systems, it is better to use better and stronger resolutions. In a better scenario, you can use software that converts audio to text so that the eyes of the blind people are less exposed to staring at the monitor screen. Also, if a person wants to play video and computer games, it is better to consider an eye protection such as glasses. /22943-3.jpg" class="content-pics" alt="BingMag.com albinism or leprosy; Everything about this rare disease" title="BingMag.com albinism or leprosy; Everything about this rare disease" loading="lazy">

A schematic view of the category of genetic cause in autosomal recessive type of leech disease

As mentioned before, the occurrence of some genetic mutations on the genes related to melanin production can cause leech disease. However, researchers are trying to discover the molecular mechanism of this disease. In this field, information has been discovered, however brief.

In most leech models, it has been seen that genetic mutations are related to an enzyme called tyrosinase. This enzyme is responsible for breaking down the amino acid tyrosine and producing melanin. In a much simpler language, the tyrosinase enzyme is a prerequisite for the production of melanin. Depending on certain mutations, melanin production is either completely stopped or this process is extremely slow. It is also interesting to know that during various studies it has been determined that melanin plays a vital and important role in the development of the optic nerve and cornea. Therefore, this group of genetic changes causes vision problems.

Inheritance study Genetics of leprosy disease

Sometimes it happens that leprosy disease is not seen in parents, but the child is easily affected by this disease. where is the problem from? In this type of leprosy disease, transmission has occurred through autosomal recessive inheritance. Parents have the autosomal genes but they do not show symptoms of the disease. If we assume that both the mother and the father have leech genes and have no symptoms, the chance of having a child with leech is one in four. There is also a 50% chance that a child will be born who is not scaly, but is considered a carrier of this gene; This means that the child can carry the gene, but not show symptoms. If she marries a healthy person in the future, there is a twenty-five percent chance of having a male child.

If heredity is sex-linked, the story will be vastly different; Because in this scenario, the father must show signs of leprosy; Because the male gene is XY and if X is involved, the symptoms must be seen in the father. However, since the mother carries the XX gene, it is still possible that the mother is the only carrier of the disorder and does not show any symptoms. If it is assumed that the mother is a carrier of the defective gene, every girl born has a 50% chance of carrying the gene and a 50% chance of showing signs of leprosy.

Diagnosis of leprosy disease

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Leech disease is one of the few rare genetic diseases that is not difficult to diagnose; Because most of the symptoms of the disease affect the person's appearance. However, a physical exam, talking to a doctor about skin and hair changes, and of course seeing an ophthalmologist to diagnose visual disturbances can be options on the table for a complete diagnosis of Zalli's disease. Also, it is not bad to know the type of leech with genetic testing. However, performing laboratory genetic tests is not economically viable, and due to the high cost, not every person may be able to perform this test. Leprosy disease has not been discovered. However, the only treatment strategy that lies ahead for ophthalmologists and treating doctors is to take approaches to reduce the signs and symptoms of the disease. Also, skin care can be another suitable approach for zal patients. Because the risk of burns and damage to the deep tissues of the eye is very high. If a person suffers from nystagmus disorder, surgeons have a solution for this problem, and with a surgery on the eye muscles by a skilled and skilled doctor, this problem can be eliminated as much as possible.

Mention this It is necessary to point out that surgical procedures are only aimed at optimizing the side effects in the vision department, and the ability to perceive vision in blind patients will not be changed by surgery; Because this category is related to the development of the optic nerve during the fetal period. However, not all surgeries are going to be successful and flawless. Therefore, submitting to any kind of surgery and to any doctor may not be a very reasonable and logical behavior.

Zali disease; A complication that affects a person's mental health.

Since a person with a disability is significantly different from other members of society and people around him in terms of appearance, as well as shape and image, there is a possibility that the person from the very childhood And adolescence is mocked by many people in different circles such as school, workplace and even later university. On the one hand, it should be cultured so that the members of the society do not react negatively towards this group of patients as much as possible. On the other hand, it is necessary to work on the patient with leprosy so that he does not become an anxious, isolated and depressed person; Because the level of stress and lack of self-confidence in Zal patients is much higher than normal people. If the conditions for the life and well-being of patients are not provided, they will suffer severe depression. Currently, patients who live in Africa endure very difficult and exhausting conditions psychologically; A situation that may not be so difficult and challenging for people in other regions such as Europe.

With all these interpretations, scientists are trying to find a solution to regenerate melanin. The use of stem cells, as well as the use of new medical technologies such as CRISPR and gene editors, can open a window for the treatment of this genetic disorder in the near future. However, until the promised time, Zal patients should be taught how to deal with this disorder and hereditary complication and lead their normal life in the society.

  • With the phenomenon of synesthesia. Get to know more

Source: medicalnewstoday

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