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Polycystic kidney disease: 16 or 4 P Prader–Willi syndrome: 15q DCP Scheuermann's disease: 1q21-q22 or 7q22 Sickle cell disease: 11p P Spinal muscular atrophy: 5q DP Tay–Sachs disease: 15q P Turner syndrome: X C
In 1954 he discovered, confirming his preconception, that people with sickle-cell trait are resistant to the deadly falciparum malaria. In the 1970s, Allison had worked out the enzyme, inosine monophosphate dehydrogenase , as a key molecule of the immune response in autoimmune diseases and in organ transplantation .
Plasmodium falciparum is a unicellular protozoan parasite of humans, and the deadliest species of Plasmodium that causes malaria in humans. [2] The parasite is transmitted through the bite of a female Anopheles mosquito and causes the disease's most dangerous form, falciparum malaria.
Sickle-cell disease was the genetic disorder to be linked to a mutation of a specific protein. Pauling introduced his fundamentally important concept of sickle cell anemia as a genetically transmitted molecular disease. [20] This vein (4) shows the interaction between the malaria sporozoites (6) with sickle cells (3) and regular cells (1).
Sickle cell trait causes a change in the haemoglobin molecule in the blood. Normally, red blood cells have a very flexible, biconcave shape that allows them to move through narrow capillaries ; however, when the modified haemoglobin S molecules are exposed to low amounts of oxygen, or crowd together due to dehydration, they can stick together ...
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are single-gene disorders and, in most cases, they are inherited as autosomal co-dominant traits.
Hypochromic anemia may be caused by vitamin B6 deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. It can also be caused by infections (e.g. hookworms) or other diseases (i.e. anemia of chronic disease), therapeutic drugs, copper toxicity, and lead poisoning.
Sickle cell disease is the most common genetic blood disorder in the U.S., impacting primarily Black and African American individuals. There is no cure, but frequent blood transfusions help ...