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Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders typically inherited. [2] The most common type is known as sickle cell anemia. [2] It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2] This leads to the red blood cells adopting an abnormal ...
Linus Carl Pauling FRS (/ ˈpɔːlɪŋ / PAW-ling; February 28, 1901 – August 19, 1994) [4] was an American chemist, biochemist, chemical engineer, peace activist, author, and educator. He published more than 1,200 papers and books, of which about 850 dealt with scientific topics. [5] New Scientist called him one of the 20 greatest scientists ...
Mendelian traits in humans. A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
1949: "The Inheritance of Sickle Cell Anemia"- Published in Science 110: 64-66, this paper explored how a single gene mutation is responsible for the inheritance of sickle cell anemia. Neel's research and analysis supported the pattern of a mutation occurrence in the hemoglobin subunit β (HHB gene) which is responsible for providing ...
[6] [7] He correctly proposed that sickle-cell disease confers some immunity to malaria. He was the first to suggest the central idea of in vitro fertilisation, as well as concepts such as hydrogen economy, cis and trans-acting regulation, coupling reaction, molecular repulsion, the darwin (as a unit of evolution), and organismal cloning.
A sickle cell health crisis can escalate into life-threatening complications, but patients still struggle to get seen quickly in emergency rooms and also to get pain medicine.
A Rapid Diagnostic Test for Sickle Cell Anemia (1950) Harvey Akio Itano (Japanese: ハーベイ・アキオ・イタノ[1], November 3, 1920 – May 8, 2010) was an American biochemist best known for his work on the molecular basis of sickle cell anemia and other diseases. In collaboration with Linus Pauling, Itano used electrophoresis to ...
The molecular disease concept put forward in the 1949 paper also became the basis for Linus Pauling's view of evolution. In the 1960s, by which time it had been shown that sickle cell trait confers resistance to malaria and so the gene had both positive and negative effects and demonstrated heterozygote advantage, Pauling suggested that ...