[Combined alpha and beta thalassemia in a Chinese family in The Netherlands].
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.
Losekoot
M
M
Beijer
C
C
Giordano
P C
PC
van Gemeren
A D
AD
Oei
Y B
YB
Bernini
L F
LF
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*
D004247:DNA
Gecombineerde alpha- en beta-thalassemie bij een Chinese familie in Nederland.