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Scientists at Weill Cornell Medical College have developed a gene therapy strategy that could feasibly treat both beta-thalassemia and sickle cell disease. The technology is based on delivery of a lentiviral vector carrying both the human β-globin gene and an ankyrin insulator to improve gene transcription and translation, and boost levels of ...
Some hemoglobinopathies (diseases of the blood) like Sickle Cell Anemia exist on a spectrum. Sickle Cell Anemia is an autosomal recessive, prototypical monogenic Mendelian disease, meaning that the disease follows Mendelian inheritance and is traced back to a single gene. Individuals with Sickle Cell Anemia present different severities of symptoms.
Lovotibeglogene autotemcel, sold under the brand name Lyfgenia, is a lentiviral gene therapy used for the treatment of sickle cell disease. [1] [3] [4] [5]The most common side effects include stomatitis (mouth sores of the lips, mouth, and throat), low levels of platelets, white blood cells, and red blood cells, and febrile neutropenia (fever and low white blood cell count), consistent with ...
Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits (as opposed to continuously varying traits such as height) with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders.
In the most common variant of sickle-cell disease, the 20th nucleotide of the gene for the beta chain of hemoglobin is altered from the codon GAG to GTG. Thus, the 6th amino acid glutamic acid is substituted by valine—notated as an "E6V" mutation—and the protein is sufficiently altered to cause the sickle-cell disease. [5]
Carrier frequency of the intellectual disability is three times more than that of sickle cell disease and thalassemia among the Arab population with 25–60% consanguinity rates!. 33 genes (observed phenotype), were identified among the pre-screened multiplex consanguineous families with neurogenetic disorders.
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