title: [Combined alpha and beta thalassemia in a Chinese family in The Netherlands].
abstract: In a Chinese family living in The Netherlands alpha 0- and beta-thalassaemia occur singly and in combined form. All members of the family are moderately anaemic and show the characteristic haematological abnormalities of thalassaemia carriers. The nature of the alpha 0-thalassaemia defect was shown at the molecular level to be a deletion of the South East Asian type, which removes about 20 kb of DNA spanning both alpha genes in cis. The chromosome carrying the beta-thalassaemia mutation was identified using RFLPs (restriction enzyme fragment length polymorphisms). The combined heterozygosity for alpha 0- and beta-thalassaemia results in a phenotype virtually indistinguishable from heterozygous beta-thalassaemia, except for the almost balanced globin chain synthesis.
authors.forename: M
authors.initials: M
authors.lastname: Losekoot
authors.forename: C
authors.initials: C
authors.lastname: Beijer
authors.forename: P C
authors.initials: PC
authors.lastname: Giordano
authors.forename: A D
authors.initials: AD
authors.lastname: van Gemeren
authors.forename: Y B
authors.initials: YB
authors.lastname: Oei
authors.forename: L F
authors.initials: LF
authors.lastname: Bernini
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002681:China / Q000208:ethnology; D004247:DNA / Q000032:analysis; D005260:Female; D006580:Genetic Carrier Screening; D005821:Genetic Techniques; D006801:Humans; D008297:Male; D009426:Netherlands; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics*
chemical_list: D004247:DNA
vernacular_title: Gecombineerde alpha- en beta-thalassemie bij een Chinese familie in Nederland.