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Betibeglogene autotemcel, sold under the brand name Zynteglo, is a gene therapy for the treatment for beta thalassemia. [1] [5] [2] It was developed by Bluebird Bio and was given breakthrough therapy designation by the US Food and Drug Administration in February 2015.
A well-studied case is that of sickle cell anemia in humans, a hereditary disease that damages red blood cells. Sickle cell anemia is caused by the inheritance of an allele (HgbS) of the hemoglobin gene from both parents. In such individuals, the hemoglobin in red blood cells is extremely sensitive to oxygen deprivation, which results in ...
Hemoglobin SC disease – A compound heterozygous form with one sickle gene and another encoding hemoglobin C. Hemoglobin Hopkins-2 – A variant form of hemoglobin that is sometimes viewed in combination with hemoglobin S to produce sickle cell disease.
Because the genetic disorder is incompletely recessive, a person with only one SCA allele and one unaffected allele will have a "mixed" phenotype: The sufferer will not experience the ill effects of the disease, yet will still possess a sickle cell trait, whereby some of the red blood cells undergo benign effects of SCA, but nothing severe ...
At the time it was a scientific puzzle that the disease was prevalent even though it killed people before they reached puberty, before they can have children to pass on the lethal gene. [4] He found that the prevalence of sickle-cell trait (heterozygous condition) among people inhabiting coastal areas was higher than 20%. [8]
Haplogroup E-M2, also known as E1b1a1-M2, is a human Y-chromosome DNA haplogroup.E-M2 is primarily distributed within Africa followed by West Asia. More specifically, E-M2 is the predominant subclade in West Africa, Central Africa, Southern Africa, and the region of the African Great Lakes; it also occurs at moderate frequencies in North Africa, and the Middle East.
Hemoglobin Lepore syndrome is typically an asymptomatic hemoglobinopathy, which is caused by an autosomal recessive genetic mutation.The Hb Lepore variant, consisting of two normal alpha globin chains (HBA) and two delta-beta globin fusion chains which occurs due to a "crossover" between the delta (HBD) and beta globin (HBB) gene loci during meiosis and was first identified in the Lepore ...
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, it is usually is short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient ...