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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.
Sickle cell anemia is a genetic disease that causes deformed red blood cells with a rigid, crescent shape instead of the normal flexible, round shape. It is caused by a change in one nucleotide, a point mutation [30] in the HBB gene .
The risks and benefits related to gene therapy for sickle cell disease are not known. Gene therapy has been used in the eye. The eye is especially suitable for adeno-associated virus vectors. Luxturna is an approved gene therapy to treat Leber's hereditary optic neuropathy.
Genetic disorder. A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single ...
Graham Roger Serjeant. Graham Roger Serjeant CMG (born 1938) is a British medical researcher who studied sickle-cell disease in Jamaica, setting up screening programmes and a cohort study from birth. He directed the MRC Laboratories at the University of the West Indies and instituted the Sickle Cell Trust (Jamaica), a local charity.
Sickle cell disease. Sickle hemoglobin (HbS) is the most common variant of hemoglobin and arises due to an amino acid substitution in the beta-globin subunit at the sixth residue from glutamic acid to valine. There are different forms of sickle cell disease. HB SS which is the most common and severe form of sickle cell.
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