Beta-thalassemia intermedia in a Lebanese child due to homozygosity for the -88 (C-->T) mutation.
We report a case of beta-thalassemia intermedia involving a 3-year-old male child of Lebanese descent. Molecular studies of the family showed that he is homozygous for the -88 (C-->T) beta (+)-thalassemia mutation. This mutation is the second most common cause of beta-thalassemia in Black populations, and has also been reported in Asian Indians. A review of Lebanese beta-thalassemia cases revealed considerable mutation heterogeneity and excess homozygosity due to consanguinity.
Waye
J S
JS
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
Patterson
M
M
Eng
B
B
Scully
M F
MF
D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005914:Globins / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007861:Lebanon; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D017086:beta-Thalassemia / Q000235:genetics*
D003062:Codon; D005914:Globins