Archive for September, 2008

Sickle Cell Anemia

September 30, 2008

Sickle cell anemia disease is an inherited disorders that causes abnormal shaped red blood cells. All types of sickle cell disease are caused by a genetic change in hemoglobin, the oxygen-carrying protein inside the red blood cells.  The  abnormality causes chronic anemia, painful events, and several complications due to tissue and organ damage.
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Rubinstein-Taybi Syndrome

September 28, 2008

Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux Syndrome,RSTS, and RTS) is a rare genetic disorder. This disorder is caused by gene mutations on chromosome 16.  Individuals with this disorder have conditions such as; short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. People with this disorder may...
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Sanfilippo Syndrome-MPS-III

September 25, 2008

Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare genetic disorder caused by a deficiency in one of the enzymes needed to breakdown glycosaminoglycan heparan sulfate in the metabolism. The heparan sulfate slowly  builds in the brain; causing hyperactivity, sleep disorders, loss of speech,  and dementia.
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Retinoblastoma (Rb)

September 24, 2008

Retinoblastoma is a genetic disorder cause by mutations in the RB1 gene. The RB1 gene is responsible for coding the retinoblastoma in the retina of the eye. This gene mutation leads to cancer of the retina in children under four years of age.
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