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Some may have migrated into and introduced the Senegal and Benin sickle cell haplotypes into Basra, Iraq, where both occur equally. [111] West Africans, bearing the Benin sickle cell haplotype, may have migrated into the northern region of Iraq (69.5%), Jordan (80%), Lebanon (73%), Oman (52.1%), and Egypt (80.8%). [111]
HBB protein is produced by the gene HBB which is located in the multigene locus of β-globin locus on chromosome 11, specifically on the short arm position 15.4. Expression of beta globin and the neighbouring globins in the β-globin locus is controlled by single locus control region (LCR), the most important regulatory element in the locus located upstream of the globin genes. [9]
Born at Wapello, Iowa, in 1889, Mason received a B.S. from University of California, Berkeley, in 1911, and an M.D. from Johns Hopkins University in 1915. As a medical resident at Hopkins in 1922 Mason gave the disease sickle cell anemia its name.
A graphical representation of the typical human karyotype The human mitochondrial DNA. Human genetic variation is the genetic differences in and among populations.There may be multiple variants of any given gene in the human population (), a situation called polymorphism.
Strength of natural selection plot as a function of age. The antagonistic pleiotropy hypothesis (APT) is a theory in evolutionary biology that suggests certain genes may confer beneficial effects early in an organism's life, enhancing reproductive success, while also causing detrimental effects later in life, contributing to the aging process.
Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the context of a population. Genetics has given rise to a number of subfields, including molecular genetics , epigenetics , and population genetics .
In Sudan, sickle cell disease was first reported in 1926 by Archibald. [23] The disease is considered one of the major types of anemia, especially in Western Sudan where the sickle cell gene is frequent [24] Sickle cell disease is the major haemoglobinopathy seen in Khartoum, the capital of Sudan. This may be attributed to the migration of ...
In persons with sickle cell disease, high levels of fetal hemoglobin as found in a newborn or as found abnormally in persons with hereditary persistence of fetal hemoglobin, the HbF causes the sickle cell disease to be less severe. In essence the HbF inhibits polymerization of HbS. A similar mechanism occurs with persons who have sickle cell trait.