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Some hemoglobinopathies (diseases of the blood) like Sickle Cell Anemia exist on a spectrum. Sickle Cell Anemia is an autosomal recessive, prototypical monogenic Mendelian disease, meaning that the disease follows Mendelian inheritance and is traced back to a single gene. Individuals with Sickle Cell Anemia present different severities of symptoms.
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.
Lovotibeglogene autotemcel, sold under the brand name Lyfgenia, is a lentiviral gene therapy used for the treatment of sickle cell disease. [1] [3] [4] [5]The most common side effects include stomatitis (mouth sores of the lips, mouth, and throat), low levels of platelets, white blood cells, and red blood cells, and febrile neutropenia (fever and low white blood cell count), consistent with ...
A Plasmodium knowlesi merozoite attaching to a red blood cell. P. knowlesi largely resembles other Plasmodium species in its cell biology. Its genome consists of 23.5 megabases of DNA separated into 14 chromosomes. [5] It contains approximately 5200 protein-coding genes, 80% of which have orthologs present in P. falciparum and P. vivax. [5]
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]
[71] [72] [73] Studies have found evidence of genetic differences between populations, but the distribution of genetic variants within and among human populations is impossible to describe succinctly because of the difficulty of defining a "population", the clinal nature of variation, and heterogeneity across the genome. [74]
A well-studied case is that of sickle cell anemia in humans, a hereditary disease that damages red blood cells. Sickle cell anemia is caused by the inheritance of an allele (HgbS) of the hemoglobin gene from both parents. In such individuals, the hemoglobin in red blood cells is extremely sensitive to oxygen deprivation, which results in ...
Sickle-cell and malaria. As a recessive gene, Sickle-cell disease is only present if homozygous, with no dominant gene to beat them out. Sickle-cell disease, originating in people living in tropical areas where malaria is prevalent, is a hereditary blood disorder characterized by rigid, sickle-shaped red blood cells. The unusual shape and ...