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

Article

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

American journal of human genetics - 1 Jun 1990

Wilkie A O, Zeitlin H C, Lindenbaum R H, Buckle V J, Fischel-Ghodsian N, Chui D H, Gardner-Medwin D, MacGillivray M H, Weatherall D J, Higgs D R

Abstract excerpt

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...

Topics

Adolescent
Animals
Child
Child, Preschool
Chromosome Mapping
Female
Gene Expression Regulation
Genes
Genetic Linkage
Globins

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

Abstract excerpt

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