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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).
Niemann–Pick disease [citation needed] Phenylketonuria: 53 Porphyria: 53 Retinoblastoma [citation needed] Sickle-cell disease: 53 Sanfilippo syndrome [citation needed] Tay–Sachs disease: 53 Wet (dominant) or dry (recessive) earwax; Non-Mendelian traits. Most traits (including all complex traits) are non-mendelian. Some traits commonly ...
Treatment. Depends on type (see types) Beta thalassemias ( β thalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals.
Differential diagnosis. Neuropathic pain, hyperalgesia, osteomyelitis. A vaso-occlusive crisis is a common painful complication of sickle cell anemia in adolescents and adults. [1] [2] It is a form of sickle cell crisis.
Sickle cell anemia occurs when the HBB gene mutation causes both beta-globin subunits of hemoglobin to change into hemoglobin S (HbS). Sickle cell anemia is a pleiotropic disease because the expression of a single mutated HBB gene produces numerous consequences throughout the body.
Aplastic anemia causes a deficiency of all blood cell types: red blood cells, white blood cells, and platelets. [5] [6] It occurs most frequently in people in their teens and twenties but is also common among the elderly. It can be caused by heredity, immune disease, or exposure to chemicals, drugs, or radiation.
Sickle cell-beta thalassemia is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia allele from the other. Mutations. A sickle allele is always the same mutation of the beta-globin gene (glutamic acid to valine at amino acid six). In contrast, beta-thalassemia alleles can be created by many different mutations ...
HbA2 is also important for diagnosing sickle cell disease, which is one of the most prevalent genetic conditions. Sickle cell disease exhibits characteristics of either homozygous hemoglobin S, also known as Hb S, or Hb S paired with another hemoglobin variant.
The molecular disease concept put forward in the 1949 paper also became the basis for Linus Pauling's view of evolution. In the 1960s, by which time it had been shown that sickle cell trait confers resistance to malaria and so the gene had both positive and negative effects and demonstrated heterozygote advantage, Pauling suggested that ...
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