Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene.
beta Thalassemia is a major public health concern in Southeast Asia. A prevention program has been implemented in Thailand comprising mass carrier screening and genetic testing. In this study, a Thai girl with severe beta thalassemia/hemoglobin (Hb) E disease was born from the mother with Hb E trait and the genotypically normal father. DNA sequencing revealed novel 22-bp tandem duplication in the paternal allele of beta globin gene, producing a severely truncated product. A short recurring nucleotide at the insertion site suggested a predisposition to this mutation. Therefore, spontaneous beta globin mutations occasionally occur in normal population. Its clinical significance is noteworthy in countries with high prevalence of beta thalassemia.
Rojnuckarin
Ponlapat
P
Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Settapiboon
Rung
R
Vanichsetakul
Preeda
P
Sueblinvong
Tada
T
Sutcharitchan
Pranee
P
D000483:Alleles; D020029:Base Pairing; D001483:Base Sequence; D005220:Fathers; D005260:Female; D020440:Gene Duplication; D005914:Globins / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D017086:beta-Thalassemia / Q000145:classification / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*
D005914:Globins; D006446:Hemoglobin E