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As Rare as it Gets: Chediak Higashi Syndrome

Dec 20th 2013 at 8:40 PM

The classic form is present at birth or occurs soon after birth. The late-onset form occurs later in childhood or adulthood and is much milder than the classic form. People with the late-onset form experience minimal pigmentation changes and are less likely to develop severe, recurrent infections. However, adults with late-onset forms of the disorder have a significant risk of developing neurological problems such as difficulty with balance and movement, tremors, weakness in the arms and legs, and reduced intellectual capacity. Read more What Causes CHS? CHS is an inherited condition that is caused by a defect in the LYST gene (also called the CHS1 gene). The LYST gene gives the body instructions about how to make the protein that is responsible for transporting certain materials to your lysosomes. Lysosomes are structures inside some of your cells that break down toxins, destroy bacteria, and recycle worn-out cell components.http://fatlossfactoreviewscam.page.tl/Removing-unwanted-hairs.htm

The defect in the LYST gene causes the lysosomes to become too large. The enlarged lysosomes interfere with normal cell functions. Enlarged lysosomes in immune system cell structures prevent cells from seeking out and killing bacteria and the body is not able to protect itself from recurring infections. In pigment cells, abnormally large structures called melanosomes (related to lysosomes) produce and distribute melanin, the pigment that gives color to the skin, hair, and eyes. People with CHS have albinism because melanin is trapped within the larger cell structures. Chediak-Higashi is an autosomal recessive inherited disorder. Parents of a child with this type of genetic disorder both carry a copy of the defective gene, but they usually do not show signs of the condition themselves (NIH, 2008). If only one parent passes the defective gene down to you, you will not have the syndrome but you may be a carrier. This means that you can pass the gene on to your children.http://fatlossfactoreviewscam.blognet.me/2013/12/19/removing-unwanted-hairs/

accompanied by problems in the immune and nervous systems. Albinism is a lack of color in the skin, hair, and eyes. This specific type of albinism also causes vision problems such as sensitivity to light, reduced sharpness, and involuntary eye movement. There have been fewer than 200 reported cases of CHS around the world, according to the U.S. National Institutes of Health (NIH, 2012). Read more Types of CHS There are two types of CHS: classic and late-onset. The classic form is present at birth or occurs soon after birth. The late-onset form occurs later in childhood or adulthood and is much milder than the classic form. People with the late-onset form experience minimal pigmentation changes and are less likely to develop severe, recurrent infections. However, adults with late-onset forms of the disorder have a significant risk of developing neurological problems such as difficulty with balance and movement, tremors, weakness in the arms and legs, and reduced intellectual capacity. http://fatlossfactoreviewscam.beep.com/removing-unwanted-hairs-2013-12-19-1.htm?nocache=1387451356

What is Chediak-Higashi Syndrome (CHS)? Chediak-Higashi syndrome (CHS) is an extremely rare form of partial albinism that is accompanied by problems in the immune and nervous systems. Albinism is a lack of color in the skin, hair, and eyes. This specific type of albinism also causes vision problems such as sensitivity to light, reduced sharpness, and involuntary eye movement. There have been fewer than 200 reported cases of CHS around the world, according to the U.S. National Institutes of Health

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