Albinism is the topic discussed throughout the article, 'Everything you need to know about Albinism,' as well as delves deeper into the types of albinism, symptoms, causes, diagnosis process, treatments, and the complications that may come with being diagnosed with albinism. First, the article describes albinism as a heritable condition in which the body produces substantially low rates of melanin to no melanin; thus, an individual with little to no melanin lacks all pigments that color skin, hair, eyes, etc. This results from genetic mutations in the genes that produce melanin, such as TYR, OCA2, TYRP1, and SLC45A2, resulting in this lack of pigment. Individuals with the condition have paler complexions and lighter skin and hair tones than other family members of their ethnic or family heritage, problems with eyesight, sensitivity to UV light/ sun exposure, and higher risks of developing skin cancer due to the effects of lack of melanin that this condition causes. There are two main types of albinism: ocular albinism (OA)- in which the eyes are primarily affected, and oculocutaneous albinism (OCA)- affecting the skin, eyes, and hair of the individual. However, there are seven subdivisions between the two main types of albinism. These subdivisions are categorized by how mild to severe the symptoms are, i.e., OCA type one, two, three, and four, X-linked ocular albinism, Hermansky-Pudlak syndrome, and Chediak-Higashi syndrome. Although albinism can affect anyone, there has been a regional correlation to the condition. Albinism is estimated to affect one in every 2,000-5,000 individuals in sub-Saharan Africa. Whereas, in Europe and America, the rate of albinism is roughly one in every 17,000-20,000 people.
Symptoms of albinism can range from extreme to mild: lighter skin tones (levels of melanin may slowly increase over time), darkening the skin tone over time, as well as UV sensitivity resulting in freckles, moles, or lentigines. Hair color may also follow the broad spectrum trend, resulting in some individuals having white to brown hair, over time, as the individual ages, their hair may slowly darken due to an increase in melanin production. An individual's eye color may range from very light blue to brown but also change with age-- in some cases, the eye color may appear red or pinkish, typically caused by the low levels of melanin in the iris and light reflecting off the retina at the back of the eye. This lack of pigment in the eye may result in an individual to be light sensitive. Finally, vision may also be affected to a certain degree. Nystagmus, Strabismus, Amblyopia, Myopia/ Hypermetropia, Photophobia, Optic Nerve hypoplasia, Optic Nerve misrouting, and Astigmatism are all possible changes to eye functions that someone struggling with albinism may incur. There is no cure for the condition of albinism. However, treatments may be implemented to minimize the symptoms and aid in bettering an individual's everyday life who struggles with this condition.
Albinism is genetic. Generally, most albinism is a result of autosomal recessive inheritance patterns. However, albinism can have an X-linked inheritance pattern. With autosomal recessive inheritance, an individual must receive copies of the mutated gene (recessive gene) from both a maternal and paternal donor, in this case, to develop albinism. If parents are heterozygous for the trait, and the dominant allele is expressed over the recessive allele, typically making them "carriers" of the trait. Thus, they do not display any symptoms of albinism. If the parents are both heterozygous and carry the allele for albinism, there is a one-in-four chance that the offspring will have albinism. In cases where albinism is a result of X-linked inheritance, males are mainly affected. Simply because females carry two X chromosomes, if one X chromosome is damaged or mutated, the other X chromosome offsets the issue and will be expressed instead. Whereas males have an X and a Y chromosome, meaning any albino mutation in their singular X chromosome will be expressed and generate the condition.
I chose this article because although I know albinism is a prevalent condition, I do not personally know anyone who has been diagnosed with it. Due to this, I only knew the visible symptoms of the condition, not any of the biological causes of the condition, the different types of albinism, the genes involved, and so on. This made researching and reading more about the topic more interesting and informative. Prior to reading this article, I never knew that albinism could be a result of two different inheritance patterns: autosomal recessive inheritance patterns or X-linked inheritance patterns. In addition, the specific genes that affect melanin production, thus, when these genes become damaged or mutated, these genes can't produce sufficient melanin or pigments, resulting in albinism.
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