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Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. [1] The most common form is infantile Tay–Sachs disease, which becomes apparent around the age of three to six months of age, with the baby losing the ability to turn over, sit, or crawl. [1]
In the most common variant of sickle-cell disease, the 20th nucleotide of the gene for the beta chain of hemoglobin is altered from the codon GAG to GTG. Thus, the 6th amino acid glutamic acid is substituted by valine—notated as an "E6V" mutation—and the protein is sufficiently altered to cause the sickle-cell disease. [5]
This is a nonspecific indicator of the presence of disease. [1] Rouleaux formation on patient vaginal swab wet smear. Conditions that cause rouleaux formation include infections, multiple myeloma, Waldenström's macroglobulinemia, inflammatory and connective tissue disorders, and cancers.
In November 1949, Pauling, Harvey Itano, S. J. Singer and Ibert Wells published "Sickle Cell Anemia, a Molecular Disease" [64] in the journal Science. It was the first proof of a human disease being caused by an abnormal protein, and sickle cell anemia became the first disease understood at the
The most dangerous of the sickle cell diseases is known as sickle cell anemia. Sickle cell anemia is the most common homozygous recessive single gene disorder , meaning the affected individual must carry a mutation in both copies of the affected gene (one inherited from each parent) to experience the disease.
Thalassemias are inherited blood disorders that result in abnormal hemoglobin. [7] Symptoms depend on the type of thalassemia and can vary from none to severe. [1] Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. [1]
In an interview with Vibe in November 2000, Johnson spoke about what inspired him to directly address his battle with sickle cell disease in his song "You Can Never Feel My Pain", from his debut studio album H.N.I.C. He attributed his nihilism to the "permanent physical suffering" caused by his lifelong battle with the condition. [81]
Examples of this type of disorder are albinism, medium-chain acyl-CoA dehydrogenase deficiency, cystic fibrosis, sickle cell disease, Tay–Sachs disease, Niemann–Pick disease, spinal muscular atrophy, and Roberts syndrome. Certain other phenotypes, such as wet versus dry earwax, are also determined in an autosomal recessive fashion.