Bloom syndrome is one of the most rare disease occurrences effecting 1 in million populations. Its genetically controlled autosomal recessive syndrome and the babies are comparatively underweight during their birth. The symptoms include skin sensitivity to sun, short stature, immune-deficient condition, body sensitive to infectious diseases, dilated blood vessels, and butter-fly patches near nose, decreased learning ability and most importantly high risk of cancer. The individual has big ears, and high voice pitch. Men with this syndrome produce reduced sperm and women with the same have less fertility chances.
Genetically the BLM gene located in 15th chromosome, coding for RecQ helicases, is responsible for this syndrome. Diagnostic confirmation can be obtained through chromosome analysis test. The pregnant women can also be screened for this to know whether they are the carriers for the disease.
Till date there is no possible cure for this disease but can be precautionary measures like frequent surveillance for cancers, reduced exposure to sunlight, etc can help to undo the symptoms.
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