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Bloom-Torre-Machacek syndrome or simply Bloom’s syndrome isa certain rare medical condition which is classified as an autosomal recessivechromosomal one. The person affected by this medical condition suffers fromfrequent breaks and rearrangements of chromosomes.

Causes

The DNA helicase family contains a BLM gene, the onewhich triggers the Bloom’s syndrome once it gets mutated. These helicases areactually certain types of enzymes whose main purpose is to unwind the strandsof DNA molecule. The unwinding is a rather necessary process for DNArepair, RNA transcription, synthesis of DNA copies and various other processes.The chromosomes get duplicated each time a new cell prepares to be divided inorder to form two new cells. This process is medically referred to as DNAreplication and when certain errors occur while it takes place, it all leads tothe occurrence of mutations. The Bloom’s syndrome is commonly associated withan extreme increase in exchange events between sister chromatids and chromosomerearrangements and breakage. It is not yet fully understood what causes theseharmful processes on such levels, though it is a scientifically establishedfact that Bloom’s syndrome is a medical condition characterized by an autosomalrecessive pattern of inheritance. This means that the disorder can beinherited, but only in cases when both parents carry the syndrome. There arealso certain other types of mutations which may occur and trigger the Bloom’ssyndrome. The enzyme called pyruvate kinase may sometimes develop certainmissense mutations which are scientifically referred to as K422R and H391Y.

Symptoms

The most common symptoms of the Bloom’s syndrome include afacial rash which occurs rather shortly after exposure to sun and acharacteristic short stature of a person. It is also very common for theaforementioned rush to form a patch of reddened skin in the form of a butterflyon the cheeks. The rash may sometimes develop on certain areas ofthe skin which are not exposed to sunlight.

Other possible symptoms of thisdreadful medical condition may or may not include premature menopause,premature cessation of menses, failure to produce sperm, hypogonadism, earinfections, recurrent pneumonia, deficiency in certain immunoglobulin classes,moderate immune deficiency, dilated blood vessels, café-au-lait spots,hyperpigmented areas, hypopigmented areas of the skin, narrow and long face andhigh pitched voice.

Women who suffer from the Bloom’s syndrome may still havechildren in some cases. The big problem with the Bloom’s syndrome is that itmay also be involved with a large number of further medical complications andthese basically include mental retardation, learning disabilities, diabetes andchronic lung problems. Bloom’s syndrome is additionally known for being closely relatedto certain types of cancer such as carcinomas, lymphomas and leukemia, amongothers.

Statistics

According to certain statistical data, there areapproximately 6,117 cases of Bloom’s syndrome in the United States alone. Basedon such facts the statistics has led to the conclusion that there are alsoapproximately 677 cases of Bloom’s syndrome in Canada and 2,186 cases inMexico.

As far as Central America goes, there have been 5 cases of Bloom’ssyndrome in Belize, 297 in Guatemala and 111 cases in Nicaragua.

As far as theCaribbean goes, there have been 81 cases of Bloom’s syndrome reported in PuertoRico. Bloom’s syndrome in South America included 3,835 cases in Brazil, 329cases in Chile, 881 cases in Colombia, 128 cases in Paraguay, 573 cases in Peruand 521 cases in Venezuela.

Bloom’s syndrome in Northern Europe included 112cases in Denmark, 108 cases in Finland and 187 cases in Sweden. As far asWestern Europe goes, there have been 1,255 cases of Bloom’s Syndrome in theUnited Kingdom, 215 cases in Belgium, 1,258 cases in France, 82 cases inIreland, 9 cases in Luxembourg, 339 cases in Netherlands and 60 cases in Wales.Bloom’s syndrome in Central Europe has included 170 cases in Austria, 25 casesin Czech Republic, 1,717 cases in Germany, 209 cases in Hungary, 804 cases inPoland, 112 cases in Slovakia, 41 cases in Slovenia and 155 cases inSwitzerland. As far as Eastern Europe goesthere have been 214 cases of Bloom’s syndrome in Belarus, 27 cases in Estonia,48 cases in Latvia, 75 cases in Lithuania, 2,999 cases of Russia and 994 casesin Ukraine. Bloom’s syndrome in Southwestern Europe has included 163 cases inAzerbaijan, 97 cases in Georgia, 219 cases in Portugal and 839 cases in Spain.As far as Southern Europe goes, there have been 221 cases of Bloom’s syndromein Greece and 1,209 cases in Italy. Bloom’s Syndrome in Southeastern Europe hasincluded 73 cases in Albania, 8 cases in Bosnia and Herzegovina, 156 cases inBulgaria, 93 cases in Croatia, 42 cases in Macedonia, 465 cases in Romania and225 cases in Serbia and Montenegro.

There have also been 57 cases of Bloom’ssyndrome in Mongolia, 315 cases in Kazakhstan, 146 cases in Tajikistan, 550cases in Uzbekistan, 27,059 cases in China, 142 cases in Hong Kong, 2,652 casesin Japan, 9 cases in Macau, 472 cases in North Korea, 1,004 cases in SouthKorea, 473 cases in Taiwan, 1,435 cases in Turkey, 594 cases in Afghanistan,2,994 cases in Bangladesh, 45 cases in Bhutan, 22,188 cases in India, 3,316cases in Pakistan, 414 cases in Sri Lanka, 21 cases in East Timor, 4,967 casesin Indonesia, 126 cases in Laos, 490 cases in Malaysia, 1,796 cases inPhilippines, 90 cases in Singapore, 1,351 cases in Thailand, 1,722 cases inVietnam, 27 cases in Gaza Strip, 1,406 cases in Iran, 528 cases in Iraq, 129cases in Israel, 116 cases in Jordan, 47 cases in Kuwait, 78 cases in Lebanon,537 cases in Saudi Arabia, 375 cases in Syria, 52 cases in United ArabEmirates, 417 cases in Yemen, 1,585 cases in Egypt, 48 cases in West Bank, 117cases in Lybia, 815 cases in Sudan, 62 cases in Congo, 432 cases in Ghana, 70cases in Liberia, 236 cases in Niger, 369 cases in Nigeria, 226 cases inSenegal, 414 cases in Australia and 83 cases in New Zealand.

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