![]() If there is a family history of the condition, genetic counseling is helpful to plan a child. Can Bloom syndrome be prevented?īloom syndrome today cannot be prevented as it is a genetic disorder.īut, it is advisable to undergo a genetic test in case there seems to be an increased risk of developing the syndrome.Įxpecting parents can undergo a prenatal genetic test to diagnose the genetic profile of the unborn child for bloom syndrome. People with recurrent infections and defects in humoral immunity are treated with gamma globulin infusions that help decrease the frequency or severity of the infection. Other treatment measures include insulin resistance seen in type 2 diabetes and reduced intensity or dose of chemotherapy dosage. ![]() However, many clinicians caution against this due to the early onset of cancer in some children who were treated in the past. So, many clinicians promote hormone treatment to improve linear growth. This includes coverage of exposed skin and the use of broad-spectrum sunscreen of at least 30 SPF.Īnother clinical manifestation of Bloom syndrome is a short height or stature. Since the exposure to the sun leads to the appearance of a butterfly-shaped rash, skin protection is an important part of the treatment of the symptoms. Hand-Picked article for you: Have Your 23andMe Raw Data? Use It To Get 500+ Health-Realted Genetic Traits! Treatment of Manifestations People with the condition, especially infants and kids, are advised to avoid sun exposure to the face and back. Hence, these treatments need to be modified for those suffering from Bloom syndrome. The treatments provided today are only symptomatic and supportive.Īffected individuals are often hypersensitive to DNA damaging chemicals and radiation therapies that are done for cancer treatments. What is the treatment for Bloom syndrome?Ĭurrently, there is no treatment for Bloom syndrome. The condition is presumed to result from a defect in the cell’s DNA repair mechanism. Protein RecQ helicase is controlled by the gene for Bloom syndrome and is involved in cell repair, cell division, and cell death. This part is responsible for the production of the protein BLM.Ī single mutation of the gene, known as BLMAsh is responsible for most Bloom Syndrome cases among the Ashkenazi Jews. The gene responsible for this syndrome has been traced to band 26.1 on the q arm of chromosome 15. What is the cause of bloom syndrome?īloom syndrome is an autosomal recessive trait. They also have a high carrier frequency with 1 in every 100 people being a carrier of the mutation. ![]() It can be seen in many ethnic groups but is more common is the Ashkenazi Jews, who have Polish or Ukrainian ancestry. The rash can also develop in other areas of the body that get exposed to the sun.īloom syndrome is a rare disease and only about 275 cases have been reported so far. The skin rash that develops is often a butterfly-shaped patch of reddened skin across the nose and cheeks. It is an autosomal recessive disorder that is characterized by short stature, a rash that develops on exposure to the sun and an increased risk of developing cancer. Bloom Syndrome is also known as Bloom-Torre-Machacek syndrome.
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