Anemia clinical presentation

GSH-S deficiency is a more frequent cause of GSH deficiency (HI7), and more than 20 families with this enzyme deficiency have been reported since the first report by Oort et al. (05). There are two distinct types of GSH-S deficiency with different clinical pictures. In the red blood cell type, the enzyme defect is limited to red blood cells and the only clinical presentation is mild hemolysis. In the generalized type, the deficiency is also found in tissues other than red blood cells, and the patients show not only chronic hemolytic anemia but also metabolic acidosis with marked 5-oxoprolinuria and neurologic manifestations including mental retardation. The precise mechanism of these two different phenotypes remains to be elucidated, because the existence of tissue-specific isozymes is not clear. Seven mutations at the GSH-S locus on six alleles—four missense mutations, two deletions, and one splice site mutation—have been identified (S14). 

Phosphoglycerate kinase deficiency is an X-linked recessive disease (type IX, Fig. 42-1). The most common clinical presentation includes hemolytic anemia with or without CNS involvement (see below). Thus far, ten patients have been described with a purely myopathic... 

This chapter will provide an overview of anemia. This first section will present definitions and classification systems. A review of basic aspects of erythropoiesis, followed by laboratory evaluation of the anemia patient will then be discussed. The general similarities in the clinical presentation of the anemic patient will be presented in the text. 

Marin-Fernandez P. Clinical presentation, natural course, and prognostic factors. In Schrezenmeier H, et al, eds. Aplastic Anemia Pathophysiology and Treatment. Cambridge, UK, Cambridge University Press, 2000 117-133. 

On the practical side, several considerations deserve attention. For many clinical purposes, especially when anemia is present, the administra tion of whole blood, or separated red oelle in a suitable suspension medium, can meet the patient s needs more effectively than plasma or any plasma fraction. Where red cells are not needed, however, the use of plasma fractions, rather than whole plasma, often has great advantages. 

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