{beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15.
beta-thalassemia major can be caused by homozygosity or compound heterozygosity for beta-globin gene mutations (HBB gene). Most cases are inherited from parents who both have diseased alleles of the HBB gene. We report a patient with late-onset beta-thalassemia major that evolved from beta-thalassemia minor in which only one of her parents had the diseased HBB gene. To study the cause of beta-thalassemia major in this patient, we performed the 100K single nucleotide polymorphism genotyping assay, fluorescence in situ hybridization, and DNA methylation analysis of the imprinting genes near the HBB gene. The results showed a loss of heterozygosity in the region of chromosome 11p14.3 to 11p15.5, which perfectly matched one allele of her father. Our study demonstrates that paternal uniparental isodisomy of chromosomal 11p15.5 is associated with the beta-thalassemia major in this patient. Key words: beta-thalassemia major, uniparental isodisomy, mosaicism.
Chang
Jan-Gowth
JG
Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Tsai
Wen-Chan
WC
Chong
Inn-Wen
IW
Chang
Chao-Sung
CS
Lin
Chyi-Chang
CC
Liu
Ta-Chih
TC
D000328:Adult; D002880:Chromosomes, Human, Pair 11; D019175:DNA Methylation; D018450:Disease Progression; D005220:Fathers; D005260:Female; D018392:Genomic Imprinting; D005838:Genotype; D006720:Homozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D020641:Polymorphism, Single Nucleotide; D024182:Uniparental Disomy; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*