Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. II, Cases without detectable abnormality of the α globin complex

We have identified five unrelated patients, all of north European origin, who have hemoglobin H (Hb H) disease and profound mental handicap. Surprisingly, detailed molecular analysis of the alpha globin complex is normal in these subjects. Clinically, they present with a rather uniform constellation...

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Bibliographic Details
Published in:American journal of human genetics 1990-06, Vol.46 (6), p.1127-1140
Main Authors: WILKIE, A. O. M, ZEITLIN, H. C, LINDENBAUM, R. H, BUCKLE, V. J, FISCHEL-GHODSIAN, N, CHUI, D. H. K, GARDNER-MEDWIN, D, MACGILLIVRAY, M. H, WEATHERALL, D. J, HIGGS, D. R
Format: Article
Language:English
Subjects:
Adolescent
alpha -globin
Animals
Biological and medical sciences
Child
Child, Preschool
Chromosome Mapping
Complex syndromes
Female
Gene Expression Regulation
Genes
Genetic Linkage
Globins - genetics
Humans
Hybrid Cells
Infant
Intellectual Disability - genetics
Male
Medical genetics
Medical sciences
mental retardation
Mutation
Syndrome
Thalassemia - genetics
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Summary:We have identified five unrelated patients, all of north European origin, who have hemoglobin H (Hb H) disease and profound mental handicap. Surprisingly, detailed molecular analysis of the alpha globin complex is normal in these subjects. Clinically, they present with a rather uniform constellation of abnormalities, notably severe mental handicap, microcephaly, relative hypertelorism, unusual facies and genital anomalies. Hematologically, their Hb H disease has subtly but distinctly milder properties than the recognized Mendelian forms of the disease. These common features suggest that these five "nondeletion" patients have a similar underlying mutation, quite distinct from the 16p13.3 deletion associated with alpha thalassemia and mild to moderate mental retardation described in the accompanying paper. We speculate that the locus of this underlying mutation is not closely linked to the alpha globin complex and may encode a trans-acting factor involved in the normal regulation of alpha globin expression.
ISSN:0002-9297
1537-6605