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
Method to Extend Research in Time (MERIT) Award (R37)
Project #
5R37HL025552-17
Application #
2215844
Study Section
Special Emphasis Panel (NSS)
Project Start
1979-09-01
Project End
1997-08-31
Budget Start
1995-09-01
Budget End
1996-08-31
Support Year
17
Fiscal Year
1995
Total Cost
Indirect Cost

  Institution

Name
Scripps Research Institute
Department
Type
DUNS #
City
La Jolla
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

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