Albinism begins with a defect in one or more genes responsible for producing or distributing melanin, the pigment that gives color to skin, hair, and eyes. This genetic defect can be inherited or occur spontaneously as a new mutation.
Inheritance of Albinism
Most commonly, albinism is inherited in an autosomal recessive pattern. This means a child must inherit two copies of the faulty gene—one from each parent—to develop albinism. Parents who carry one copy of the faulty gene (but don't have albinism themselves) are called carriers. If both parents are carriers, there's a 25% chance with each pregnancy that their child will inherit albinism.
- Carrier Parents: Both parents carry the gene for albinism, but do not exhibit symptoms.
- Affected Child: A child inherits two copies of the faulty gene, resulting in albinism.
Spontaneous Mutations
In some cases, albinism can result from a new gene mutation that occurs spontaneously during the formation of reproductive cells (sperm or egg). This means neither parent carries the gene, and the albinism wasn't inherited.
Types of Albinism
Different types of albinism exist, depending on which gene is affected and the severity of the mutation. These variations influence the amount and distribution of melanin produced, leading to varying degrees of symptoms.
Summary
Albinism is a genetic condition stemming from a defect in the genes responsible for melanin production or distribution. This defect can be inherited from carrier parents or arise as a new mutation. The specific type and severity of albinism depend on the gene affected and the nature of the mutation.
