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Photomicrograph of normal-shaped and sickle-shape red blood cells from a patient with sickle cell disease. Sickle cell anemia is a genetic disease that causes deformed red blood cells with a rigid, crescent shape instead of the normal flexible, round shape. [29] It is caused by a change in one nucleotide, a point mutation [30] in the HBB gene.
"Sickle Cell Anemia, a Molecular Disease" is a 1949 scientific paper by Linus Pauling, Harvey A. Itano, Seymour J. Singer and Ibert C. Wells that established sickle-cell anemia as a genetic disease in which affected individuals have a different form of the metalloprotein hemoglobin in their blood.
The pathogen that causes the disease spends part of its cycle in the red blood cells and triggers an abnormal drop in oxygen levels in the cell. In carriers, this drop is sufficient to trigger the full sickle-cell reaction, which leads to infected cells being rapidly removed from circulation and strongly limiting the infection's progress.
In human, the HBB gene is located on chromosome 11 at position p15.5.. Hemoglobin subunit beta (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the HBB gene, which along with alpha globin (), makes up the most common form of haemoglobin in adult humans, hemoglobin A (HbA). [5]
This disease attacks humans early in life. Thus humans who are resistant enjoy a higher chance of surviving and reproducing. While humans have evolved multiple defenses against malaria, sickle cell anemia—a condition in which red blood cells are deformed into sickle shapes, thereby restricting blood flow—is perhaps the best known. Sickle ...
Spindle cell sarcoma in muscle tissue. Spindle cell sarcoma is a type of connective tissue cancer.The tumors generally begin in layers of connective tissue, as found under the skin, between muscles, and surrounding organs, and will generally start as a small, inflamed lump, which grows in size.
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