Albinism is an inherited genetic condition that affects the coloring (pigmentation) of the skin, hair and eyes. The types of albinism are: Ocular albinism (only affects the eyes); Oculocutaneous albinism that affect the eyes, skin and hair (has as subcategories: OCA1a – no pigment and no tyrosinase; the tyrosinase enzyme converts tyrosine (an amino acid) into melanin (the chemical responsible for hair and skin pigmentation), OCA1b (some residual tyrosinase exists and thus some degree of pigmentation) and OCA2;  Hermansky-Pudlack syndrome (is very rare and mostly affects persons of Puerto Rican descent and may involve bleeding disorders and bruising), Chediak-Higashi syndrome (abnormality in white blood cells that lowers the resistance to infections); Griscelli syndrome (immunodeficiency and neurological problems).

 

Causes

Albinism is produced by a defect in one of several genes that are responsible for producing and/or distributing melanin. It is inherited from both the mother and the father.

Symptoms and signs

Absence of pigmentation in the skin, hair and eyes

In milder cases, a lighter than normal color

Sensitivity to light

Strabismus (cross-eyes), astigmatism

Impaired vision

Nystagmus ( rapid eye movement)

Advice

Because of the lack of melanin, people with most forms of albinism cannot sun tan

 

Exposure to the sun usually causes sunburns and future complications, if left unattended, could lead to skin cancer

 

Those who have albinism should be careful to take the necessary precautions for their condition: limit/avoid sun exposure, protect themselves whenever outside (protective glasses, adequate clothes)

 

Always consult a doctor if any skin modification is noticed

MISCONCEPTIONS
  • Albinism is the result of inbreeding or incest

     

    Albinism is a sort of godly punishment for some wrongdoing in the family

     

    People with albinism are sterile

     

    Albinism implies complete blindness

     

    People with albinism have magical powers

Statistics

An estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism

 

North America and Europe: 1 in 17,000

 

Africa: 1 in 5,000 to 10,000

Did you know?

The chances of having a child with albinism is 1 in 4 if both parents are carriers with one defective gene each

 

About 1 in 70 people are albinism carriers, with one defective gene but with no symptoms

 

In the early 2000s, a blood test has been developed that can identify carriers of some types of albinism genes

 

A test during amniocentesis (amniotic fluid test) can diagnose some types of albinism in an unborn child

 

In Zimbabwe, it is thought that having intercourse with a woman with albinism will cure a man of HIV. This has led to a large number of rapes in the area.