Abstract

This is a broadly-based study of the red cell metabolism and enzymology. The following projects will be pursued this year: 1) Efforts will be made to determine the mechanism by which red cells elevate glucose-6-phosphate concentration when incubated with high concentration of glucose; 2) efforts will be made to define the incidence and the hematologic manifestations of alpha-thalassemia; 3) we will try to isolate GSSG-stimulated ATPase from red cell membranes and; 4) studies will be performed on the storage of platelets and red cells in buffered media.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Research Project (R01)
Project #
2R01HL025552-09
Application #
3563699
Study Section
Hematology Subcommittee 2 (HEM)
Project Start
1979-09-01
Project End
1992-08-31
Budget Start
1987-09-01
Budget End
1988-08-31
Support Year
9
Fiscal Year
1987
Total Cost
Indirect Cost

  Institution

Name
Scripps Research Institute
Department
Type
DUNS #
City
San Diego
State
CA
Country
United States
Zip Code
92037

  Publications

van Wijk, Richard; van Solinge, Wouter W; Nerlov, Claus et al. (2003) Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency. Blood 101:1596-602
Corrons, Joan-Lluis Vives; Garcia, Estefania; Tusell, Joan J et al. (2003) Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. Blood 102:353-6
Beutler, Ernest; Vulliamy, Tom J (2002) Hematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis 28:93-103
Herschel, Marguerite; Karrison, Theodore; Wen, Ming et al. (2002) Isoimmunization is unlikely to be the cause of hemolysis in ABO-incompatible but direct antiglobulin test-negative neonates. Pediatrics 110:127-30
Beutler, Ernest; Gelbart, Terri; Miller, William (2002) Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome. Blood Cells Mol Dis 28:104-7
Beutler, Ernest; West, Carol (2002) Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype. Isr Med Assoc J 4:986-8
Lee, P L; Halloran, C; Trevino, R et al. (2001) Human transferrin G277S mutation: a risk factor for iron deficiency anaemia. Br J Haematol 115:329-33
Lee, P L; Halloran, C; Beutler, E (2001) Polymorphisms in the transferrin 5' flanking region associated with differences in total iron binding capacity: possible implications in iron homeostasis. Blood Cells Mol Dis 27:539-48
Herschel, M; Beutler, E (2001) Low glucose-6-phosphate dehydrogenase enzyme activity level at the time of hemolysis in a male neonate with the African type of deficiency. Blood Cells Mol Dis 27:918-23
Beutler, E (2001) Discrepancies between genotype and phenotype in hematology: an important frontier. Blood 98:2597-602

Showing the most recent 10 out of 138 publications