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Stephanie was born with sickle-cell disease. At the age of 5, she participated in a clinical trial at St. Jude Children's Research Hospital, which used bone marrow transplants to treat the disease. The treatment was highly effective for her, and Dr. Keith Wagner, who led the study, considered Stephanie one of its most successful cases.
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.
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.
Throughout Sub-Saharan Africa, genetic adaptation (e.g., rs334 mutation, Duffy blood group, increased rates of G6PD deficiency, sickle cell disease) to malaria has been found among Sub-Saharan Africans, which may have initially developed in 7300 BP. [91] Sub-Saharan Africans have more than 90% of the Duffy-null genotype. [107]
[114] [115] The second initiative, focused on Sickle-cell disease (SCD), resulted in passage of the National Sickle Cell Anemia Control Act in May 1972. Long ignored, the lifting of SCD from obscurity to high visibility reflected the changing dynamics of electoral politics and race relations in America during the early 1970s.
Hereditary xerocytosis occurs more commonly in African populations, [2] [4] and it exhibits complex interactions with other hereditary alterations of red blood cells, including sickle cell disease [4] [5] and malaria resistance. [4] [6] Osmosis leads to the red blood cell having a constant tendency to swell and burst.
Common causes include asplenia (post-splenectomy) or congenital absence of spleen (right atrial appendage isomerism). Spleens are also removed for therapeutic purposes in conditions like hereditary spherocytosis, trauma to the spleen, and autosplenectomy caused by sickle cell anemia.
At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome. More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single-gene and multi-gene clusters along the chromosome.