Albino

Albino's disease overview

Obvental terms often refer to albinism in humans (albinism) including a group of genetic disorders associated with small or non -producing melanin pigmentation. Melanin and the number of melanin produced will determine the skin color, hair and eyes. Melanin also plays a role in the development of optic nerves, so people with albinism have vision problems.

Signs of albinism are often easily seen in the skin, hair and eye color of the patient, but sometimes the difference is not much different from normal people. People with albinism are also very sensitive to the effects of sunlight, so they are at higher risk of skin cancer than normal people.

Although there is no cure for albinism, people with this disorder can take steps to protect the skin, eyes and maximize their vision.So what is the disease albinism , what causes albinism will have details in the article below.

Causes of Albino's disease

The cause of albinism occurs due to genetic mutations. Some play a role in controlling the process of synthesizing protein chain to build the structure of melanin. Melanin is produced by cells called Melanocytes, found in human skin, hair and eyes.

albinism is caused by a mutation in one of these genes. Mutations may completely lose melanin or significantly reduce the amount of melanin.

Symptoms of Albino's disease

In albinism there are symptoms related to skin, hair, eye color and vision.

Skin. The most recognizable albino form is white hair and very pink skin compared to siblings of the sick. Skin color (pigment) and hair color may vary from white to brown, and even, maybe similar to the color of parents or siblings without albinism.

When exposed to the sun, some people may develop:

  • Freckles. Moles, with or without pigmentation - moles without pigmentation are often pink. The spots are like dark pigments (lentigines)
  • Sunburn and incapable of healing.
  • For some people with albinism, skin pigmentation never changes over time, but there are some cases of melanin skin pigmentation that can start Or increase in childhood and adolescence, resulting in some minor changes in skin pigmentation.

    • Hair. Hair color can be from pure white to brown. African or Asian people with albinism may be blond, light red or brown.

    eye color. Eyes and eyebrows are often pale. Eye color can from light blue to brown and can vary with age. Due to the lack of pigmentation in the iris, making the iris blurry, making the iris unable to completely block the light into the eyes, leading to pale blue eyes that may appear red.

    Visuality decline is one of the characteristics of all kinds of albinism, including:

  • Eye vibration
  • or move your head, such as shaking or tilting your head, to try to reduce eyeballs and see more clearly.
  • Inability to see two eyes in the same point or move in the same direction (squint)
    • myopia or farsightedness
  • Photophobia
  • Abnormal curved front surface of the eyes or lenses inside the eyes (astigmatism), causing blurred vision
  • The abnormal development of the retina, leading to vision loss
  • Neurological signals from the retina to the brain does not follow the normal neural path (false nerves)
  • Poor awareness
  • The eyes are too poor, almost nothing to see with lower vision than 20/200 (Legal Blindness) or completely blind

    • Transmission route of Albino's diseaseAlbino

    albinism is not transmitted from patients to healthy people.

    People at risk for Albino's disease

    Children born from families with a history of albinism are at higher risk of albinism than those who are born with no one with albinism.

    Prevention of Albino's disease

    If a family member has albinism, couples who are intending to give birth, they should come and ask for advice from genetic experts to help them better understand albinism and limit. The possibility of giving birth in the future with albinism.

    Diagnostic measures for Albino's disease

    Diagnostic albinism is based on:

  • physical examination includes skin pigmentation and hair test
  • Demonstration of eye exams
  • Compare pigmentation of patients with other family members
  • Considering a history of illness such as having continuous bleeding, excessive bruising or abnormal infections
  • Check for vision disorders, evaluate eyeball vibration, protruding eyes (strabismus) and light fear. In addition, the doctor also uses a specialized device to directly check the retina and determine whether there are signs of abnormal development.
  • Asked about whether the family had albinism, which can help determine the albino and have genetic or not.

    • Albino's disease treatments

    Due to albinism is a genetic disorder so it cannot be cured. Treatment focuses on proper eye care and skin monitoring to detect abnormal signs. The care group includes an initial health care doctor and an ophthalmologist, a dermatologist and a geneticist.

    Treatment usually includes:

  • eye care. Annually check the eye periodically and wear contact lenses as directed by the doctor. Although surgery is rarely used to treat the eye problems of albinism, the longan doctor can have eyeball surgery to minimize eyeball vibration.
  • Skin care and prevent skin cancer. Albino patients should be regularly examined for skin cancer or lesions that can lead to cancer.
  • People with Hermansky-Pudlak or Chediak-Higashi syndrome often need continuous specialized care to solve problems of disease and prevent complications. >

    • The lives of people with albinism

    To be able to help children with albinism can take care of themselves from an early age to adulthood, parents should:

  • Use low vision support devices, such as hand -held magnifying glass, one -eye magnifying glass or magnifying glasses with glass and tablets are synchronized with the communication board Minh in the classroom.

    • Always use sunscreen with sunscreen (SPF) from 30 or more to protect the skin from UVA and UVB rays.

  • Absolutely avoid exposure to the sun is at high risk or prolonged risk, such as outside for a long time or at noon, on sunny days with clouds.
  • Wear protective clothing, including colored clothes, such as long sleeves, shirts with necks, long pants and socks; wide -brimmed hats; and anti -ultraviolet clothes.
  • Protect the eyes when wearing sunglasses.

    • Change schools or jobs. If children have albinism, before children go to school, parents should go to work with teachers and school administrators to take measures to help your child adapt to studying in class. Adjustments for classrooms or working environments can support albino children such as:

  • Sitting near the board
  • Large format printing textbooks or tablets
  • A tablet can be synchronized with the board, allowing children to sit further in the classroom
  • Hand -playing document with the same content as the content written on the board or screen
  • Printing documents have high contrast, such as black paper on white paper, instead of using color printing paper
  • The font size on the big computer screen
  • Avoid strong light in the learning environment or work
  • Allow more time to take the test or read documents
  • Dear emotional issues and social relationships

    • Help children develop skills to deal with others' reactions to albinism. Example:

  • Encourage children to talk to parents about what happened and feel of children.
  • Practice answering teasing questions or shameful children.
  • Find a group of homologous or community supports
  • Please advise from mental health experts, who can help parents and children develop communication skills and deal with situations that may occur with people. albinism.

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