Abstract

Human hemoglobin disorders cause much morbidity and mortality throughout the world. New methods of studying genes, particularly restriction endonuclease analysis by gel electrophoresis and blotting, and sequencing of DNA in molecular clones, have allowed much recent progress in the study of normal human globin genes and their alterations in these disorders. This proposal describes analysis of specific DNA defects in beta thalassemia, study of the switchover from fetal to adult hemoglobin synthesis using nondeletion types of hereditary persistence of fetal hemoglobin, and comparison of mild and severe thalassemia, and investigation of alpha-globin gene expression in alpha-gene variants. These studies will relate results by their newer technics to those obtained by hematological, genetic, and biochemical methods. The long-term objective of this project is to provide information which will be of use in diagnosis and therapy of patients with hemoglobin disorders.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis, Diabetes, Digestive and Kidney Diseases (NIADDK)
Type
Research Project (R01)
Project #
5R01AM016691-13
Application #
3151023
Study Section
Hematology Subcommittee 2 (HEM)
Project Start
1977-05-01
Project End
1987-11-30
Budget Start
1984-12-01
Budget End
1985-11-30
Support Year
13
Fiscal Year
1985
Total Cost
Indirect Cost

  Institution

Name
Children's Hospital of Philadelphia
Department
Type
DUNS #
073757627
City
Philadelphia
State
PA
Country
United States
Zip Code
19104

  Publications

Heidenreich, R; Eisman, R; Surrey, S et al. (1990) Organization of the gene for platelet glycoprotein IIb. Biochemistry 29:1232-44
Zimrin, A B; Gidwitz, S; Lord, S et al. (1990) The genomic organization of platelet glycoprotein IIIa. J Biol Chem 265:8590-5
Cohen, A R; Mizanin, J; Schwartz, E (1989) Rapid removal of excessive iron with daily, high-dose intravenous chelation therapy. J Pediatr 115:151-5
Burk, C; Ingram, C; Weiner, M et al. (1988) A Taq 1 polymorphism for the human platelet glycoprotein IIIa gene (GP3A). Nucleic Acids Res 16:7216
Zimrin, A B; Eisman, R; Vilaire, G et al. (1988) Structure of platelet glycoprotein IIIa. A common subunit for two different membrane receptors. J Clin Invest 81:1470-5
Ballas, S K; Larner, J; Smith, E D et al. (1988) Rheologic predictors of the severity of the painful sickle cell crisis. Blood 72:1216-23
Sharon, B; Poncz, M; Surrey, S et al. (1988) Non-random association of the Rsa I polymorphic site 5' to the beta-globin gene with major sickle cell haplotypes. Hemoglobin 12:115-24
Surrey, S; Delgrosso, K; Malladi, P et al. (1988) A single-base change at position -175 in the 5'-flanking region of the G gamma-globin gene from a black with G gamma-beta+ HPFH. Blood 71:807-10
Guzzo, C; Weiner, M; Rappaport, E et al. (1987) An Eco R1 polymorphism of a human platelet factor 4 (PF4) gene. Nucleic Acids Res 15:380
Schwartz, E; Month, S; Delgrosso, K et al. (1987) DNA sequence changes in the 5'-flanking region of G gamma-globin genes in a black with beta S and a non-deletional form of G gamma-beta+ HPFH. Prog Clin Biol Res 251:363-71

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