About Sickle Cell Disease - National Human Genome Research …
网页2020年5月26日 — Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Red blood cells with normal hemoglobin (hemoglobin-A) are smooth and round and glide through blood vessels.
Sickle cell disease - Wikipedia
网页The allele responsible for sickle cell anaemia can be found on the short arm of chromosome 11, more specifically 11p15.5. A person who receives the defective gene from both father and mother develops the disease; a person who receives one defective and one healthy allele remains healthy, but can pass on the disease and is known as a carrier or ...
Clinical genome editing to treat sickle cell disease—A brief update
网页2023年1月9日 — The two non-α-subunits of hemoglobin are encoded by five different genes located within the β-globin locus on chromosome 11 (Figure 1A). The respective genes, HBE (coding for ε-globin), HBG2 and HBG1 (γ-globin), HBD (δ-globin) and HBB (β-globin), are expressed in a developmental stage-specific manner in erythroid cells ( 7 ).
Human chromosome 11 DNA sequence and analysis including …
网页2006年3月23日 — It is also home to the β-globin gene cluster, which is responsible for several disorders including sickle-cell anaemia. Chromosome 11, although average in size, is one of the most gene- and...
Anemia, sickle cell - Genes and Disease - NCBI Bookshelf
网页SCA is an autosomal recessive disease caused by a point mutation in the hemoglobin beta gene (HBB) found on chromosome 11p15.5. Carrier frequency of HBB varies significantly around the world, with high rates associated with zones of high malaria incidence, since carriers are somewhat protected against malaria.
Sickle Cell Disease—Genetics, Pathophysiology, Clinical …
网页2019年5月7日 — Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder.
How Does Sickle Cell Cause Disease? - Harvard University
网页2002年4月11日 — The gene that controls the production of the beta globin subunit of hemoglobin is located on one of the 46 human chromosomes (chromosome #11). People have twenty-two identical chromosome pairs (the twenty-third pair is the unlike X and Y chromosomes that determine a person's sex).
Sickle cell disease: MedlinePlus Genetics
网页Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disease have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle or crescent shape.
Genetic comparison of sickle cell anaemia cohorts from Brazil and …
网页2019年7月26日 — Sickle cell anaemia (SCA) is caused by homozygosity for a point mutation in the beta-globin gene (HBB) on chromosome 11. SCA was the first monogenic disease to be described in humans 1 and...
Genetic Variation and Sickle Cell Disease Severity
网页Circle size represents the number of genes in that pathway out of the total submitted genes (gene ratio); circle color, degree of significance after adjusting for multiple testing (adjusted P value, using the Benjamini-Hochberg method).
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