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The naturally occurring mutants described here provide an excellent opportunity for elucidating the relationship between structure and function of the alpha globin complex and the larger chromosomal region 16p13.3. From a practical point of view it is important to remember that millions of individuals throughout the world are carriers for alpha thalassaemia and every year many thousands of pregnancies are at risk of producing children with the severe alpha thalassaemia syndromes. The data summarized here provide the basis for accurately predicting the genotype in such cases and thus enabling appropriate prenatal testing. The less common larger rearrangements involving chromosomal band 16p13.3 may provide information on the nature of other genes that surround the alpha complex. Furthermore, the mechanism by which they have occurred provide some new and more general insights into the possible causes of other forms of unexplained mental handicap.

Original publication




Journal article


European journal of clinical investigation

Publication Date





340 - 347


MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, UK.


Humans, Chromosome Deletion, Hemoglobins, Globins, Hematology, Gene Expression, Gene Rearrangement, Base Sequence, Multigene Family, Awards and Prizes, Molecular Sequence Data, Societies, Scientific, Europe, Intellectual Disability