Albinism By Huynh (Diem) Phan

Albinism is a genetic defect that affects thousands of people each day. This defect affects all races. Unlike other deficiencies or diseases that are easily hidden, Albinism is physically apparent. It is caused by an altered gene that controls the body from producing melanin it which gives humans the pigment color. There are many types of Albinism like Hermansky-Pudlak syndrome or Ocular Albinism but the two main types of Albinism: Type 1 and type 2. Type 1 is caused by the lack of melanin within the body, while type 2 is caused by a defect in the “P” gene.  The “P” gene or oculocutaneous Albinism II (OCA2) is a gene that provides information and instructions for making a P protein. In Albinism, OCA2 becomes mutated making Albinos have white skin, light hair and vision problems.

Some people with Albinism may have the ability to begin producing melanin as they age, giving them the ability to have a little pigmentation in their skin.  Because of their overly sensitive skin, being exposed to the sun will severely damage them causing them to form freckles, moles, sunburn, and even the possibility of skin cancer. To reduce all of these issues many people with Albinism will have to protect themselves by wearing sunscreen or fully covering themselves to reduce the risk of further damaging their skin. Because many Albino people are so intolerant to the sun they are so limited in the activities they can perform daily. There is not an exact treatment to help Albinos with their skin condition. The best treatment is to continuously monitor and regularly go see their doctor for checkups.

Other than the loss of pigmentation of the skin, many Albinos suffer other health issues like problems with their eyes and discoloration of their hair. These problems include functional blindness, Amblyopia, Photophobia, poor vision, Nystagmus, or Strabismus. To relieve sensitivity to the light it is recommended that they wear sunglasses. The lack of melanin causes the iris of the eyes to become light-colored. Instead of having normal colors like brown, green, or blue, some may have red or even purple colors. Because of the light eyes, they begin to have problems in the retina causing many of these problems stated earlier. To treat their eyes, many people will need corrective lenses or even optical muscle surgery to correct or minimize Nystagmus. Unlike normal people, many albinos tend to have more creamy white hair depending on the race. Discoloration of the hair does not affect their health but it is just a physical difference many can see.

Not only do numerous people with Albinism suffer from prolonged health issues, but many also suffer from learning and social challenges. Because of their poor vision, it becomes challenging for many children and teens to learn. So to decrease these obstacles it is recommended that many of the students sit near the front or are given handouts of the content written on the boards. Because Albino people look so physically different, many begin to encounter social isolation or even teasing. To help cope with these problems, many parents should begin to talk to children, find a support group or even find a psychotherapist.

Due to genetics, there is no certain way to prevent or diagnose Albinism, the only way is to educate individuals with or without it. It is passed down from generation to generation. The most accurate way to diagnose Albinism is to get a genetic test. This offers families understanding that they may be carrying the defective gene which may or may not affect their children, but they will continue to carry and pass on the gene to future generations. Because Albinism is a genetic disorder, the treatment for it becomes so limited. They are unable to live the lives other humans live, like the ability to see without corrective lenses or sunglasses or even to walk outside without wearing protective clothing or applying sunscreen. Because all children go to school they may find it difficult to cope with the challenges that arise, like poor vision or even teasing but each of these problems can be handled with extra help from outside sources. Even though there is not an overall cure, there are many ways around this genetic disorder that with help other parts of their lives become easier.

 

References:

• Genetics Home References: http://ghr.nlm.nih.gov/gene/OCA2
• Mayo Clinic: http://www.mayoclinic.org/diseases-conditions/albinism/basics/symptoms/con-20029935
• PubMed Health:  http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002450/
• NYU Langone Medical Center: http://www.med.nyu.edu/content?ChunkIID=22573

Medline Plus http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm