Hemolysis, clinical features

The major clinical features of hemolysis include anemia, jaundice, splenomegaly, and cholelithiasis. Anemia is normochromic in most cases. Macrocytosis and polychromatophilia are seen in patients with marked reticulocytosis. Red... 

HK deficiency (OMIM 235700) is a rare, recessively inherited disease with chronic nonspherocytic hemolytic anemia as the predominant clinical feature. The phenotypic expression of the disease is heterogeneous, as with most glycolytic red cell enzyme deficiencies. The spectrum ranges between severe neonatal hemolysis and death to a fully compensated chronic hemolytic anemia. Patients benefit in general from a splenectomy. Red cell morphology is normal. Since HK activity is dependent on red cell age, reticulocytosis, always present in HK-deficient patients, may obscure enzyme deficiency. Other age-dependent red cell enzymes (e.g., pyruvate kinase and/or G6PD) should be measured simultaneously as an internal control to assess the influence of reticulocyte enzyme activity. 

There are two distinct types of GSH-S deficiency, both associated with mild chronic hemolysis in one type, hemolysis is the only clinical manifestation. In the other, the major clinical features are mental retardation, severe generalized muscle weakness, tremors, incoordination, hemolytic anemia, and metabolic acidosis. This second and much more severe type of GSH-S deficiency is also known as 5-oxopro-linurta or pyroglutamic aciduria. The difference in severity of these disorders reflects the fact that in the mild form, GSH-S deficiency is confined to the RBCs because in this disorder the GSH-S is unstable. GSH-S activity is present in adequate quantity in young RBCs, but it rapidly declines as the cells age, because the cells are unable to synthesize new molecules of GHS-S. Other cells of the body that have nuclei and ribosomes can compensate for accelerated denaturation of GSH-S by synthesizing more. On the other hand, in the severe systemic form of GSH-S deficiency, aE cells of the body have low activities of GSH-S because they cannot form this enzyme in adequate amounts. In both types of GSH-S deficiency, RBCs exhibit notable reduction in GSH concentration. 

B. Clinical Features. The clinical picture of aerosolized C. perjringens alpha toxin would be expected to be that of a serious acute pulmonary insult. Absorbed alpha toxin could produce vascular leakage, hemolysis, thrombocytopenia, and liver damage. Other toxins admixed could modify the illness. 

The serum IgM concentration in one of the patients in Nigeria, who was only 19 years of age, was above 4000 mg/100 ml. On Immunoelectrophoresis, there was spontaneous precipitation of massive quantities of cryomacroglobulins which could not be removed from the agar gel even after extensive washing of the gels for several days. Clinically this patient was jaundiced and anemic, probably due to hemolysis of his red cells by the massive increase of the serum IgM. The monoclonal protein in both the serum and urine were of the IgM k type. The unusual features in this particular case were his age and the presence of hemolytic jaundice. 

---