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Sickle cell anemia and albinism are both recessive hereditary diseases of human origin, with a high prevalence in sub-Saharan Africa. (1) Albinism is a group of hereditary disorders linked to a defect in the synthesis of melanin, a pigment produced in melanocytes, the specialized cells of the skin, hair, iris, pigmented epithelium of the retina and inner ear, and associated with a normal number and structure of melanocytes. (2) Oculocutaneous albinism (OAC) is an autosomal recessive inherited disorder. This anomaly is due to a deficiency or absence of tyrosinase activity, a key enzyme in melanin biosynthesis by melanocytes in the skin, hair follicles and eyes. (3) Oculocutaneous albinism is the only generalized depigmenting disease that affects the skin, eyes, hair and dander, and is detectable from birth. It rarely affects Europeans, frequently Africans, and rarely Amerindians in terms of the number of ethnic groups concerned, but once present, it reaches the highest frequencies in the world.
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