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Migration of substantial populations from these high-prevalence areas to low-prevalence countries in Europe has dramatically increased in recent decades and in some European countries, sickle cell disease has now overtaken more familiar genetic conditions such as haemophilia and cystic fibrosis.
Those who have minor degrees of thalassemia, in common with those who have sickle-cell trait, have some protection against malaria, explaining why sickle-cell trait and thalassemia are more common in regions of the world where the risk of malaria is higher.
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).
So far, the two gene therapies for sickle cell have only been approved in wealthier countries: both of them in the U.S., and one in Britain and Bahrain as well.
Britain's medicines regulator has authorized the world's first gene therapy treatment for sickle cell disease, in a move that could offer relief to thousands of people with the crippling...
Sickle cell – The gene for HbS associated with sickle-cell is today distributed widely throughout sub-Saharan Africa, the Middle East, and parts of the Indian subcontinent, where carrier frequencies range from 5–40% or more of the population.
So far, the two gene therapies for sickle cell have only been approved in wealthier countries: both in the U.S., and one in Britain and Bahrain as well.
The Vertex-CRISPR therapy has a U.S. list price of $2.2 million, while bluebird's is $3.1 million. Both therapies, pitched as one-time treatments, will be available in early 2024.
This geographical distribution is thought to be due to beta-thalassemia carrier state (beta thalassemia minor) conferring a resistance to malaria. In the United States, thalassemia's prevalence is approximately 1 in 272,000 or 1,000 people.
Sickle cell is the most common disease to receive approval for gene therapy treatment, following decades of development and years of approvals for therapy for people with rarer conditions.