PMID: 7527242Aug 1, 1994Paper

Nondeletional type of hereditary persistence of fetal haemoglobin: molecular characterization of three unrelated Thai HPFH

British Journal of Haematology
P WinichagoonY Fukumaki

Abstract

The beta-globin gene clusters of three unrelated Thai families with a nondeletional type of hereditary persistence of fetal haemoglobin (HPFH) were studied using polymerase chain reaction-related techniques. All appeared to have normal nucleotide sequences from the Cap site to position -400 of both the G gamma- and A gamma-globin genes. Two individuals suspected of having a beta-thalassaemia gene linked to the high HbF condition also had a normal beta-globin gene sequence, spanning from position -108 from the Cap site to the polyadenylation site. Deletion of four nucleotides, AGCA, at positions -225 to -222 of one A gamma-globin allele was detected in one subject and was confirmed by dot-blot hybridization. Restriction fragment length polymorphisms in the beta-globin gene cluster showed that the 5' haplotype (-+-++) and the presence (+) of an Xmm 1 polymorphic site at -158 of the G gamma-globin gene are associated with the high F phenotype in these families. Direct sequencing of the 5' hypersensitive-2 (5' HS-2) site of the locus control region (LCR) showed that this Xmn 1 (+) site is also linked to a specific rearrangement of TA repeats (TA)9CACATATACG(TA)10, in HS-2 segment.

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Citations

Oct 8, 2008·International Journal of Hematology·Riyaz A PanditChayanon Peerapittayamongkol
Dec 29, 2000·Journal of Pediatric Hematology/oncology·P WinichagoonP Wasi
Sep 28, 2002·American Journal of Hematology·Saovaros SvastiSuthat Fucharoen
Jan 28, 1999·Biochemical and Biophysical Research Communications·S F Ofori-AcquahD M Layton

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