THE DETECTION OF ALBINISM

 THE DETECTION OF ALBINISM 

               

    Albinism is a medical condition that affects a person's skin color, eye color, and hair color; it tends to be white. This condition is cause by the decrease of tyrosinase activity. Albinism has different types of patterns, it depends on the genes of the chromosomes and the mutation that occurs. It is an inherited condition, that is considered to be an autosomal recessive defect. This means that it is passed on from family members; meaning there must be a history of this condition in the family. According to one of the websites, "In certain ethnic groups we found at least one mutation in all, and two mutations in over 90% of albinos."  

    This medical condition can be detected by a "..light and electron microscopic examination of melanogenesis in fetal scalp biopsies or by molecular genetic tests" during pregnancy. The physical appearance of the individual can involve a major factor for detection; their skin pigmentation, eye color, and hair color is white and abnormal. This condition can also be associated with bowel disease and bleeding problems. When an individual suffers from this condition it is important for the individual to speak with their doctor to explain the treatment and restrictions; such as avoiding a long time in the sun, and wearing sunscreen. 

 

1. Prenatal diagnosis and carrier detection of albinism | Genetics in Medicine (nature.com)

2. Albinism | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)