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The human genome has two linked alpha-globin genes on chromosome 16. Deletion of one or more of them, as occurs in alpha-thalassaemia, leads to a reduced output of alpha-globin mRNA in proportion to the number of alpha-globin genes lost. In some racial groups deletion of one of the pair of alpha-globin genes may result from unequal crossing over between the genes on homologous chromosomes by a mechanism resembling that postulated for the formation of the delta beta fusion genes of the Lepore haemoglobins. By analogy, the opposite chromosome in this cross-over should have three alpha-globin genes just as the 'anti-Lepore chromosome has three non-alpha chain genes. We describe here a Welsh family in which three members have five alpha-globn increased alpha mRNA output and it may therefore produce the phenotype of mild beta-thalassaemia.
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| http://dx.doi.org/10.1038/284632a0 | DOI Listing |
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- Regular blood transfusions, the standard treatment, can result in iron overload that adversely affects major organs, particularly in women, increasing risks of hormonal issues and reproductive challenges.
- The review discusses the disease's impact on female reproductive health and the potential of metabolomics to guide better treatment approaches for managing thalassemia-related complications.
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