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Sickle cell disease occurs when a person inherits two abnormal copies of the β-globin gene (HBB) that makes haemoglobin, one from each parent. This gene occurs in chromosome 11. Several subtypes exist, depending on the exact mutation in each haemoglobin gene.
Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta gene (is heterozygous), but does not display the severe symptoms of sickle cell disease that occur in a person who has two copies of that allele (is homozygous).
A single point mutation in this polypeptide chain, which is 147 amino acids long, results in the disease known as Sickle Cell Anemia. Sickle-cell anemia is an autosomal recessive disorder that affects 1 in 500 African Americans, and is one of the most common blood disorders in the United States.
Sickle-cell anemia. Sickle-cell anemia (SCA) is a genetic disorder caused by the presence of two incompletely recessive alleles. When a sufferer's red blood cells are exposed to low-oxygen conditions, the cells lose their healthy round shape and become sickle-shaped. This deformation of the cells can cause them to become lodged in capillaries ...
Haemochromatosis type 1: 6 P Hemophilia: X P Klinefelter syndrome: X C Neurofibromatosis: 17q/22q/? Phenylketonuria: 12q P Polycystic kidney disease: 16 or 4 P Prader–Willi syndrome: 15q DCP Scheuermann's disease: 1q21-q22 or 7q22 Sickle cell disease: 11p P Spinal muscular atrophy: 5q DP Tay–Sachs disease: 15q P Turner syndrome: X C
Sickle cell anemia is a disease in which the body produces unusual sickle shaped of red blood cells. They contain abnormal haemoglobin which leave them curved. The sickle-shaped red blood cells carry less oxygen to your tissues compared to normal red blood cells and they may cause blockage to the flow of blood to your organs by stucking in your ...
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