Bloom’s syndrome

Update posted by Corrie Cahill On Jul 04, 2016

Bloom’s syndrome is a rare genetic disorder in which the cell’s ability to maintain the integrity of DNA is impaired. This DNA instability is displayed at the chromosome level as striking increases in exchanges between chromosomes, as well as increases in chromosome gaps and breaks. The syndrome is inherited in an autosomal recessive manner, wherein both the maternally- and paternally-derived copies of the Bloom’s syndrome gene (BLM) are functionally deficient.

Bloom's syndrome is characterized by unusually small size, sensitivity to sunlight, immune-system deficiencies, and an extraordinarily high risk for developing cancer—of any type—beginning early in life. Other clinical features include chronic respiratory illness, recurrent ear infections, and diabetes. Males are infertile; females enter menopause prematurely. There are fewer than 300 known surviving cases of Bloom's syndrome worldwide. Lifespan is limited; the average age of death is 27 years. The most common cause of death is from cancer.

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I love these boys to bits and will do all I can to help them

Corrie Cahill

Backed with £10.00 On Sep 11, 2016

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Charlotte orchard

Backed with £5.00 On Jul 07, 2016

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Anonymous

Backed On Jul 06, 2016 Amount Hidden

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Please dig deep people and help these children get their life prolonging tablets thanks in advance

Barry Cahill

Backed with £20.00 On Jul 04, 2016

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Corrie Cahill

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Paul Eaton

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Rachel Newman

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