Albinism Health Risk

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Why is Albinism a health risk? Albinism is a non-contagious, inherited genetic condition that is present at birth. In most cases, albinism appears to be recessive, meaning that for a child to be born with the condition, the child inherits an abnormal gene from each parent. When neither of the parents have albinism but both parents carry the defective gene, it is likely that they have a one in four chance that their child will have albinism (1). Albinism is caused by the mutations in the genes that provide instructions for making proteins, which are involved for producing melanin, the pigment that provides the colour to the eyes, hair and skin. Melanin absorbs ultraviolet (UV) light from the sun to protect the skin. When these genes are altered,…show more content…
With advances in molecular research and technological advances in the health and medical field, the various conditions of albinism can be reviewed and diagnosed. Parents are now able to test the family history of albinism using the ‘Parental DNA Testing’ to determine whether there is a disorder in the fetus (4). There are two methods to diagnose albinism, either ‘Aminocentesis,’ which a needle is introduced in to the uterus to draw off the fluid, or ‘Chronic Villous Sampling (CVS)’ where a small piece of tissue is removed from the placenta. The cells in the fluid are then examined to see whether they have the albinism gene from each…show more content…
suggests that the social reality of people with albinism who are described as albino needs to me studied more. Their research focuses on the evaluation of the quality of life and the impact on albinos. The quality of life was evaluated through the ‘World health organisation quality of life instruments’ (WHOQOL-BREF). Additionally, the two main aspects that may have affected lives of albinos that were looked as was low vision and skin cancer. The research consisted of forty people with Oculocutaneous albinism and a control group with forty people who were healthy, which has matched by sex and age. Their study has evidenced that skin lesions and decrease in the visual acuity are responsible for the impact on the quality of life on people with albinism. Though, during the clinical appointments, there were a couple of complaints regarding to personal problems such as family and work relationships, where it often left the individuals feeling as victims of prejudice. However, with those complaints, it did not alter the analysis of the quality of life, as they were not sensitive to the instrument that was used in the study, when comparing the results to the control group. Not only avoiding the sun and looking for treatments of skin lesions would help, most important factor is family, providing genetic and professional guidance that includes enjoyable activities would ease down the

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