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Hemoglobin H Disease and Mental Retardation: A New Syndrome or a Remarkable Coincidence?

The New England journal of medicine, 1981-09, Vol.305 (11), p.607-612 [Peer Reviewed Journal]

Copyright Massachusetts Medical Society Sep 10, 1981 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM198109103051103 ;PMID: 6267462

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Title:
Hemoglobin H Disease and Mental Retardation: A New Syndrome or a Remarkable Coincidence?
Author: Weatherall, D. J ; Higgs, D. R ; Bunch, C ; Old, J. M ; Hunt, D. M ; Pressley, L ; Clegg, J. B ; Bethlenfalvay, N. C ; Sjolin, S ; Koler, R. D ; Magenis, E ; Francis, J. L ; Bebbington, D
Subjects: Adult ; Anemia ; Child ; Children ; Chromosome 16 ; Chromosome Mapping ; Chromosomes ; Clinical medicine ; Deoxyribonucleic acid ; Developmental stages ; DNA ; DNA - analysis ; DNA Restriction Enzymes - metabolism ; Enzymes ; Families & family life ; Female ; Genes ; Genotype & phenotype ; Globins - biosynthesis ; Hematology ; Hemoglobin ; Heredity ; Heterozygote ; Hospitals ; Humans ; Intellectual disabilities ; Intellectual Disability - complications ; Intellectual Disability - genetics ; Male ; Medicine ; Mutation ; Patients ; RNA, Messenger - analysis ; Syndrome ; Thalassemia ; Thalassemia - blood ; Thalassemia - complications ; Thalassemia - genetics
Is Part Of: The New England journal of medicine, 1981-09, Vol.305 (11), p.607-612
Description: 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 α-thalassemia and the other is normal, suggesting that this form of Hb H disease results from the interaction between an inherited defect of α-chain production on 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 three patients, and demonstrated at least two hitherto undescribed lesions involving the α-globin gene cluster. Unless the association between Hb H disease and mental retardation is fortuitous, the new mutations may also be related to the developmental changes in these children. Since the mutations only came to light because there was concurrent inheritance of an additional α-thalassemia determinant, this type of mutation of chromosome 16 may have been overlooked in other mentally retarded patients. (N Engl J Med. 1981; 305:607–12.) HEMOGLOBIN H (Hb H) disease is a hemolytic anemia that occurs frequently in Mediterranean and Oriental racial groups, although rarely in northern Europeans. It results from a reduced rate of synthesis of the α chains of adult hemoglobin (Hb A; α 2 β 2 ), which leads to an accumulation of excess β chains that form β 4 molecules (Hb H). The latter are unstable and precipitate in red cells, causing premature removal of the cells from the circulation and therefore various degrees of hemolysis. 1 Hb H disease is one of the α-thalassemia syndromes, which are inherited disorders caused by . . .
Publisher: United States: Massachusetts Medical Society
Language: English
Identifier: ISSN: 0028-4793
EISSN: 1533-4406
DOI: 10.1056/NEJM198109103051103
PMID: 6267462
Source: ProQuest One Psychology
AUTh Library subscriptions: ProQuest Central
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Hemoglobin H Disease and Mental Retardation: A New Syndrome or a Remarkable Coincidence?

Copyright Massachusetts Medical Society Sep 10, 1981 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM198109103051103 ;PMID: 6267462

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