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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).
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 thought of as Mendelian are not, including: Eye Color; Psychiatric diseases; Hair color; Height
As of 2015, about 4.4 million people have sickle cell disease, while an additional 43 million have sickle cell trait. Sickle cell disease (SCD) affects millions of people worldwide, with a higher prevalence in sub-Saharan Africa, Spanish-speaking regions in the Western Hemisphere (South America, the Caribbean, and Central America), Saudi Arabia ...
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes.
Sickle cell-β thalassemia. Specialty. Hematology. Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and like sickle cell trait to being similar to sickle cell disease. [1] [2]
Sickle Cell Anemia, a Molecular Disease" is a 1949 scientific paper by Linus Pauling, Harvey A. Itano, Seymour J. Singer and Ibert C. Wells that established sickle-cell anemia as a genetic disease in which affected individuals have a different form of the metalloprotein hemoglobin in their blood.
Sickle cell anaemia: 1 in 625: Cystic fibrosis: 1 in 2,000 Tay–Sachs disease: 1 in 3,000 Phenylketonuria: 1 in 12,000 Autosomal recessive polycystic kidney disease: 1 in 20,000: Mucopolysaccharidoses: 1 in 25,000 Lysosomal acid lipase deficiency: 1 in 40,000 Glycogen storage diseases: 1 in 50,000 Galactosemia: 1 in 57,000 X-linked Duchenne ...
In addition, there is sickle cell trait (HbAS) which is defined by having HbA and HbS. This makes the individual heterozygous for sickle cell. Of the world population, it is estimated that there are about 300 million individuals with the sickle cell trait and about 100 million of those are in sub-Saharan Africa. [18]
Sickle cell-Hb Lepore Boston syndrome is a type of sickle cell disease (HbS) that differs from homozygous sickle cell disease where both parents carry sickle hemoglobin. In this variant one parent has the sickle cell hemoglobin the second parent has Hb Lepore Boston, the only one of the three variants described in association with HbS.
Gene therapy is a medical technology that aims to produce a therapeutic effect through the manipulation of gene expression or through altering the biological properties of living cells. [1] [2] [3] The first attempt at modifying human DNA was performed in 1980, by Martin Cline, but the first successful nuclear gene transfer in humans, approved ...