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Each of three families of northern European origin contains a mentally retarded son with hemoglobin H (Hb H) disease. One parent is a carrier of mild alpha-thalassemia and the other is normal, suggesting that this form of Hb H disease results from the interaction between an inherited defect of alpha-chain production and one member of the pair in chromosome 16 and a new mutation on the other. Restriction-enzyme analysis indicated that the new mutation was not the same in the other three patients, and demonstrated at least two hitherto undescribed lesions involving the alpha-globin gene cluster. Unless the association between the Hb H disease and mental retardation is fortuitous, the new mutations may also be related to the development changes in these children. Since the mutations only came to light because there was concurrent inheritance of an additional alpha-thalassemia determinant, this type of mutation of chromosome 16 may have been overlooked in other mentally retarded patients.

Original publication

DOI

10.1056/NEJM198109103051103

Type

Journal article

Journal

N Engl J Med

Publication Date

10/09/1981

Volume

305

Pages

607 - 612

Keywords

Adult, Child, Chromosome Mapping, DNA, DNA Restriction Enzymes, Female, Globins, Heterozygote, Humans, Intellectual Disability, Male, Mutation, RNA, Messenger, Syndrome, Thalassemia