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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.

Type

Journal article

Journal

Eur J Clin Invest

Publication Date

1990

Volume

20

Pages

340 - 347

Keywords

Awards and Prizes Base Sequence Chromosome Deletion Europe Gene Expression Gene Rearrangement Globins/*genetics Hematology Hemoglobins/*genetics Human Mental Retardation/genetics Molecular Sequence Data Multigene Family Societies, Scientific