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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.

Original publication

DOI

10.1038/284632a0

Type

Journal article

Journal

Nature

Publication Date

04/1980

Volume

284

Pages

632 - 635

Keywords

Humans, Thalassemia, DNA Restriction Enzymes, Globins, RNA, Messenger, Genotype, Phenotype, Genes, Middle Aged, Male, Genetic Linkage