The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
Gene Review

HPFH2  -  hereditary persistence of fetal hemoglobin...

Homo sapiens

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of HPFH2

  • The Spanish type of delta beta-thalassemia is a mild thalassemic condition due to a large deletion starting at the Alu I repeat between the A gamma and delta-globin genes immediately 3' to the RIH probe and extending 11 and 17 kb downstream of the 3' endpoints of HPFH 1 and HPFH 2, respectively [1].
  • Genomic DNA purified from nucleated red blood cells (nRBC) from a patient with HPFH-2/beta O thalassemia was digested with Msp I or Hpa II, and the methylation pattern determined on the HPFH chromosome by using secondary cleavage with restriction enzymes which span the deletion breakpoint [2].

High impact information on HPFH2

  • The failure of gamma-gene reactivation by the juxtaposed HPFH2 enhancer contradicts the results of previous studies [3].
  • Juxtaposition of the HPFH2 enhancer is not sufficient to reactivate the gamma-globin gene in adult erythropoiesis [3].
  • To test the hypothesis in a much stricter basis, we produced beta locus YAC transgenic mice carrying an exact beta locus replicate of a deletional HPFH mutation, HPFH 2 [3].
  • Cre-mediated generation of single copy lines showed persistent gamma gene expression maintained in some of the HPFH-2 and HPFH-6 lines, but not in any of the HPFH-3 or LCRA gamma lines [4].
  • In the HPFH-2 and HPFH-6 lines, persistent gamma gene expression correlated with euchromatic transgene integrations [4].

Biological context of HPFH2

  • These results indicate that breakpoint DNA sequences in deletion-type HPFH-2 can modify the developmentally regulated expression of the gamma-globin genes [5].
  • As predicted by the locations of the deletion endpoints, the first two sites were translocated to within 12 kb of the A gamma gene in erythroid colonies derived from an HPFH-2 heterozygote and in hybrid mouse-human erythroid cells carrying the HPFH-2 deletion chromosome [6].
  • These studies show that in nRBC the HPFH-2 chromosome is hypomethylated in the 3'-juxtaposed region (3'JR) and in the region of the gamma-globin genes [2].
  • DNA methylation in hereditary persistence of fetal hemoglobin (HPFH-2) [2].
  • One member of this family is found downstream of the beta-globin gene cluster between the 3' breakpoints of the deletions associated with Chinese G gamma + (A gamma delta beta)O thalassemia and HPFH-2 [7].

Anatomical context of HPFH2

  • A third site, most prominent in fetal liver-derived erythroid cells, was found 1 kb upstream of the HPFH-2 deletion endpoint [6].

Other interactions of HPFH2

  • In contrast, Msp I sites near the truncated psi beta-globin gene remain methylated, suggesting that only a subset of CpG sites upstream from the 3'JR become hypomethylated in HPFH-2 [2].


  1. Rapid detection of Spanish (delta beta)zero-thalassemia deletion by polymerase chain reaction. Vives-Corrons, J.L., Pujades, M.A., Miguel-García, A., Miguel-Sosa, A., Cambiazzo, S. Blood (1992) [Pubmed]
  2. DNA methylation in hereditary persistence of fetal hemoglobin (HPFH-2). Poncz, M., Sutton, M., Delgrosso, K., Schwartz, E., Surrey, S. Nucleic Acids Res. (1987) [Pubmed]
  3. Juxtaposition of the HPFH2 enhancer is not sufficient to reactivate the gamma-globin gene in adult erythropoiesis. Xiang, P., Han, H., Barkess, G., Olave, I., Fang, X., Yin, W., Stamatoyannopoulos, G., Li, Q. Hum. Mol. Genet. (2005) [Pubmed]
  4. Persistent gamma-globin expression in adult transgenic mice is mediated by HPFH-2, HPFH-3, and HPFH-6 breakpoint sequences. Katsantoni, E.Z., Langeveld, A., Wai, A.W., Drabek, D., Grosveld, F., Anagnou, N.P., Strouboulis, J. Blood (2003) [Pubmed]
  5. High levels of human gamma-globin gene expression in adult mice carrying a transgene of deletion-type hereditary persistence of fetal hemoglobin. Arcasoy, M.O., Romana, M., Fabry, M.E., Skarpidi, E., Nagel, R.L., Forget, B.G. Mol. Cell. Biol. (1997) [Pubmed]
  6. Translocation of an erythroid-specific hypersensitive site in deletion-type hereditary persistence of fetal hemoglobin. Elder, J.T., Forrester, W.C., Thompson, C., Mager, D., Henthorn, P., Peretz, M., Papayannopoulou, T., Groudine, M. Mol. Cell. Biol. (1990) [Pubmed]
  7. A retrovirus-like element occurs between the 3' breakpoints of two large deletions in the human beta-globin gene cluster. Mager, D.L., Henthorn, P.S. Prog. Clin. Biol. Res. (1985) [Pubmed]
WikiGenes - Universities