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Albinism

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Overview of Albinism

Albinism Meaning in Urdu

یہ ایک ایسی بیماری ہے جو جسم میں میلانن کو متاثر کرتی ہے۔ میلانن ایک ایسا پگمنٹ ہے جو کہ جِلد، بالوں، اور آنکھوں کی رنگت کے لیے ذمہ دار ہوتا ہے۔ یہ بیماری دائمی طور پر متاثر کرتی ہے، لیکن وقت گزرنے کے ساتھ ساتھ اس کی شدت میں اضافہ نہیں ہوتا۔ اس بیماری کے شکار افراد میں میلانن کی مقدار نہایت کم ہو جاتی ہے، حتی کہ کچھ افراد میں سرے سے میلانن موجود ہی نہیں ہوتا، اس لیے ان کی رنگت تبدیل ہو جاتی ہے۔ اس بیماری کی وجہ سے زیادہ تر افراد کے بال اور جِلد سفید ہو جاتے ہیں۔

Albinism or hypopigmentation (bhorapan/بھورا پن) is a genetic disorder in which a person suffers from inherited insufficiency to produce adequate melanin. The amount and type of melanin produced by the body play a critical role in determining the color and tone of one’s hair, skin, and eyes. In albinism, there is little or no production of melanin which often leads to abnormal phenotypic appearance and genetic complications. 

Prevalence of Albinism 

Albinism is not a common disease in Pakistan and has a prevalence rate of about 1 in 40,000. A case study by Shah and his colleagues in 2017 showed that albinism due to TYR gene mutation is the most common cause of albinism in Pakistan.

Signs and Symptoms of Albinism

Signs and symptoms associated with albinism mainly involve hair, skin, and eyes.

  • Lack or absence of melanin in the hair and skin that ultimately leads to white hair and very light-colored skin.
  • The appearance of white-coloured patches on the skin.
  • Increased sensitivity to light.
  • Impaired vision due to abnormal development of the retina.
  • Nystagmus, strabismus, photophobia, and astigmatism

Types of Albinism

Based on genetic characterization and the way of inheritance, albinism is classified into the following types:

  1. Oculocutaneous Albinism (OCA)

It is the most common type of albinism in which a person is inherited two copies of abnormal genes (one from each parent). These genetically mutated genes (OCA1 to OCA7) alter the melanin production in the hair, skin, and eyes. Mutation in any of the seven OCA genes is sufficient for causing oculocutaneous albinism. Based on the type of genetic defect and degree of melanin production, oculocutaneous albinism is further classified into several types and subtypes. 

For example, Oculocutaneous albinism A1 is mainly caused due to a genetic defect in the tyrosinase enzyme and is further categorized into two subtypes OCA1a (complete loss of melanin) and OCA1b (little production of melanin).

  1. Ocular Albinism

Ocular albinism is a less common type of albinism that is limited to the eyes and is associated with vision problems. People suffering from ocular albinism have normal hair and skin pigmentation but no coloring in the retina. It is an X-linked hereditary disorder and is caused due to genetic mutations on the X chromosome. This type of albinism is more common in males as compared to females. 

  1. Others

Several rare hereditary conditions such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and Griscelli syndrome are associated with albinism. However, such conditions are very rare and occur due to mutations in albinism-related genes.

Causes of Albinism

Albinism is caused by the changes in genes that determine the production of melanin. These changes result in little or no production of melanin causing albinism.

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Risk Factors of Albinism

Parents who suffer from albinism have an increased chance of having children suffering from albinism. Furthermore, a family history of such cases also serves as an important albinism risk factor.

The risk associated with albinism

Albinism is a genetic disorder that transfers from parents to children at birth and there is no permanent cure for this disease. Therefore, children are always at risk of developing albinism if any of their parents are suffering from albinism or a carrier of albinism. Moreover, people suffering from albinism are at a higher risk of developing skin cancer because of their skin’s hypersensitivity towards sunlight.

Albinism Genetics

Albinism is a hereditary disorder that is transferred from parents to offspring in an autosomal recessive manner. Different types of albinism are characterized based on genes that are mutated. Oculocutaneous albinism occurs when an individual has inherited two genetically mutated copies of OCA genes. The chances of getting oculocutaneous albinism are almost the same for both males and females. Whereas in the case of ocular albinism, males are more prone to this disease as it is an X-linked hereditary disorder. Only a single copy of the defective gene is sufficient for developing ocular albinism in males.

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Prevention

There are no known ways to prevent albinism. However, among families already having cases of albinism, genetic counseling can be of great help.

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Diagnosis

The following methods can be used for the diagnosis of albinism:

  • Genetic Testing: Genetic testing is recognized as one of the most accurate ways of detecting albinism even if an individual doesn’t show any typical signs and symptoms of albinism.
  • Physical Examination: It involves the examination of signs and symptoms related to albinism. For example, checking skin and hair pigmentation.
  • Electroretinogram Test: It is a type of eye exam where an ophthalmologist checks the response of the eye’s light-responsive cells and other eye complications that are associated with albinism.  

Treatment of Albinism | When to Consult a Doctor

Albinism is a genetic disorder therefore it has no cure. Symptomatic treatment and self-care are the only options available for decreasing the severity of symptoms associated with albinism. For this purpose, a person suffering from albinism should follow these recommendations.

  • Carry out a periodic eye and skin examinations.
  • Use glasses or corrective lenses to cope with vision problems.
  • Wear sunglasses to protect your eyes from UV radiation.
  • Use sunscreen or sunblock to protect your skin from UV radiation.

Seek immediate medical consultation if the following signs and symptoms have appeared in early childhood.

 

  • White hair
  • White-colored patches on the skin
  • Sensitive to light
  • Blurred vision

Related Diseases and Treatments

Doctors to treat Albinism in Pakistan

Speciality for Albinism

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