Genetic Control of Hemoglobin Synthesis

Kazazian, Haig H.

Abstract

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Type: Method to Extend Research in Time (MERIT) Award (R37)
• Project #: 5R37DK013983-27
• Application #: 2136822
• Study Section: Special Emphasis Panel (NSS)
• Project Start: 1977-12-01
• Project End: 1996-11-30
• Budget Start: 1994-12-01
• Budget End: 1996-11-30
• Support Year: 27
• Fiscal Year: 1995

Institution

• Name: University of Pennsylvania
• Department: Genetics
• Type: Schools of Medicine
• DUNS #: 042250712
• City: Philadelphia
• State: PA
• Country: United States
• Zip Code: 19104

Publications

Rund, D; Oron-Karni, V; Filon, D et al. (1997) Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype. Am J Hematol 54:16-22

Oron, V; Filon, D; Oppenheim, A et al. (1994) Severe thalassaemia intermedia caused by interaction of homozygosity for alpha-globin gene triplication with heterozygosity for beta zero-thalassaemia. Br J Haematol 86:377-9

Kazazian Jr, H H (1991) Prenatal diagnosis of beta-thalassemia. Semin Perinatol 15:15-24

Kazazian Jr, H H (1990) The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990. Semin Hematol 27:209-28

Adams 3rd, J G; Steinberg, M H; Kazazian Jr, H H (1990) Isolation and characterization of the translation product of a beta-globin gene nonsense mutation (beta 121 GAA----TAA). Br J Haematol 75:561-7

Cui, X F; Li, H H; Goradia, T M et al. (1989) Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc Natl Acad Sci U S A 86:9389-93

Safaya, S; Rieder, R F; Dowling, C E et al. (1989) Homozygous beta-thalassemia without anemia. Blood 73:324-8