Bloom Syndrome – What is it, Symptoms and Treatments

Bloom Syndrome – What it is, Symptoms and Treatments to help deal with this condition. In addition,  Bloom Syndrome is a rare autosomal recessive disorder. It is characterized by breaks and rearrangements in the chromosomes of infected people, photosensitivity, slow growth, immunodeficiency (inability of the immune system to respond effectively to pathogens) and increased risk of tumors.

Torre-Machacek Bloom Syndrome or Bloom Syndrome is an extremely rare genetic disorder characterized by short stature and patchy red skin. It is a very rare disorder, with reliable statistics often not available. However, studies show that the occurrence is more common among Jews living in Central and Eastern Europe.

People affected with Bloom Syndrome have an increased predisposition to various cancers and other diseases such as diabetes , often with an onset at an early age. They are born with low birth weight and length, and are generally thin in appearance.

They later reach a height of less than 5 feet and weigh no more than 50 pounds on average. So, check out more about  Bloom Syndrome – What it is, Symptoms and Treatments:

Causes of Bloom Syndrome:  The cause of Bloom Syndrome is a mutation in the BLM gene, which is responsible for providing instructions for building a protein known as RecQ helicase. This, in turn, is involved in the process of DNA replication. Mutations in this gene lead to impaired function in maintaining genomic stability.

In most populations, Bloom Syndrome is extremely rare, affecting 1 in every 50,000,000 individuals, being more common in Central and Eastern European populations, especially in populations of Ashkenazi Jewish descent.

Symptoms of Bloom Syndrome: People affected with Bloom Syndrome typically have the following physical characteristics:

  • Color changes in the face;
  • Possibility of mental disability;
  • Narrow face with prominent nose,
  • Cancer and leukemia tendency ;
  • short stature;
  • Increased susceptibility to infections and respiratory diseases;
  • High-pitched, squeaky voice.

Treatment for Bloom Syndrome:  There is currently no treatment for this disease. There are some methods to alleviate the symptoms. Newborns and children have little appetite. This most likely contributes to the size of the being. Consequently, they are poorly nourished, being more prone to infections.

It has also been tried to administer growth hormones but they were ineffective. In addition, an attempt is made to eliminate tumors or cancers, but the hypersensitivity of individuals forces doctors to reduce the amount of radiation.

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