What is Albinism?
Albinism usually refers to oculocutaneous (OCA), a group of genetically inherited disorders, where people lack normal levels of melanin (a pigment which determines skin color). Melanin is made by cells called melanocytes, and changes in these cells result in less melanin production. People with albinism have very pale skin, hair, and eyes. Because melanin also affects the ability of the eyes to function, albinism leads to vision complications. Additionally, the melanin usually protects the skin from UV radiation, and so, people with albinism are more likely to get skin cancer. Melanoma, the type of skin cancer that can be caused by albinism, is shown through pink or red growths or moles. However, the symptoms of albinism can be obvious or almost non-existent.
A Vampiric History
Albinism reduces the amount of melanin in the skin, hair, and eyes, which can lead to appearances with pale skin, blonde hair, and blue or sometimes red eyes. This description perfectly links up with depictions of vampires. Additionally, evil characters and villains in literature or films are frequently portrayed with albino features. Since vampires are often antagonists, this stereotype against albinos matches up.
Types of Albinism
Oculocutaneous albinism (OCA) (8 different types)
The two most common subtypes of OCA are OCA1 and OCA2. Due to mutations in the tyrosinase enzyme, the OCA genes defect and therefore produce less melanin. OCA2 is less severe than OCA1.
The following are rarer types of OCA:
OCA3, caused by a mutation in the TYRP1 gene. Affects individuals with darker skin, especially black people in Southern Africa.
OCA4, resulting from a defect in the SLC45A2 protein. Leads to minimal production of melanin. Common in East Asians.
OCA6, OCA7, and OCA8 are very rare.
Ocular albinism
Caused by a mutation on the X chromosome through X linked recessive inheritance. Because it is X linked, it occurs exclusively in males. Ocular albinism does not affect the skin or hair, but it does result in diminished coloring in the eyes.
Albinism because of genetic disorders
Hermansky-Pudlak syndrome: caused by mutations in ten genes. Includes a form of OCA, with symptoms of lung, bowel, bleeding, and bruising disorders.
Chediak-Higashi syndrome: caused by a defect in the LYST gene. Also includes a form of OCA. Usually has creamy-white to grayish skin, blond or brown hair with a silvery sheen, and people with Chediak-Higashi syndrome usually have problem with their immune system, specifically in their white blood cells.
Common Symptoms
White (to brown) hair
Very light colored skin (compared to siblings)
Freckles
Moles (sometimes pink)
Solar lentigines (large freckle-like spots)
Sunburn with no tanning
Pale eyelashes and eyebrows
Very light blue (to brown) eyes
Due to lack of pigmentation in the irises, eyes may sometimes appear red, reflecting the red from blood vessels instead of melanin.
Vision Problems
Nystagmus (rapid back-and-forth eye movements)
Odd head positions
Strabismus (eyes can’t look in the same direction at once, often appear crossed)
Nearsightedness or farsightedness
Significant sensitivity to light
Astigmatism (different curvature of the eye)
Poor depth perception
Legal or complete blindness
There is currently no cure for albinism. However, treatment such as using sunglasses, protective clothing, sunscreen, prescription eyeglasses for vision problems, or surgery on the eye muscles can help. Generally, people with albinism need to take care to limit their outdoor activity.
Works Cited
"Albinism - Symptoms and Causes." Mayoclinic, Mayo Foundation for Medical Education
and Research, 13 Dec. 2023, www.mayoclinic.org/diseases
conditions/albinism/symptoms-causes/syc-20369184. Accessed 13 Feb. 2024.
Kivi, Rose, and Matthew Solan. "Understanding Albinism." Healthline, 29 Mar. 2018,
www.healthline.com/health/albinism#outlook. Accessed 13 Feb. 2024.
Schnipke, Brent. "The Medical History of Vampires." The Student Doctor Network, 31 Oct.
2014, www.studentdoctor.net/2014/10/31/medical-history-vampires/. Accessed 13 Feb. 2024. Assessed and Endorsed by the MedReport Medical Review Board