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Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. It is due to absence or defect of tyrosinase , a copper-containing enzyme involved in the production of melanin .
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and reddish pink or blue eyes. [1] [2] Individuals with the condition are referred to as albinos.
[1] The albinism is interesting in this diagnosis because the skin of an affected individual is albino pale besides the brown patches of mispigmented skin. The "black locks" described and seen in clinical pictures of the infants are thick patches of black hair above the ears that form a half circle reaching to the other ear to make a crest shape.
Oculocutaneous albinism is a form of albinism involving the eyes , the skin (-cutaneous), and the hair. [1] Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. [1] OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. [2]
Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive [1] disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
Albinism is a recessive gene trait in animals that causes a lack of pigment in hair, tissue, skin, and more. ... the genes responsible for causing Piebald coloration also affect other physical ...
Stacy Omirin got the surprise of her life when she gave birth to twin boys in February 2019.
Albinism is a genetically inherited condition which is rare and worldwide. It affects approximately one in twenty thousand people. [4] Although rare in the western world, albinism is quite common in sub-Saharan Africa, likely as a result of consanguineous alliances. [3]