scholarly journals Hereditary Hemolytic Disease Secondary to Glucose-6-Phosphate Dehydrogenase Deficiency: Report of Three Cases with Special Emphasis on ATP Metabolism

Blood ◽  
1964 ◽  
Vol 23 (4) ◽  
pp. 427-444 ◽  
Author(s):  
DANIEL N. MOHLER ◽  
CHARLES L. CROCKETT
Keyword(s):  
Cell Survival ◽  
Dehydrogenase Deficiency ◽  
Red Cell ◽  
Hemolytic Disease ◽  
The Third ◽  
Turkish Origin ◽  
Atp Metabolism ◽  
Red Cell Survival ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Mode Of Inheritance

Abstract 1. Three cases of hereditary hemolytic disease secondary to G-6-PD deficiency are described. Two of the cases were first cousins of Scotch-Irish-English descent and the mode of inheritance was believed to be sex-linked. The third case was of Turkish origin; no family studies were availale. 2. The mothers, who were heterozygous for G-6-PD deficiency, showed only minimal expression of the defect, which was manifested by a slightly decreased red cell survival in both mothers and an abnormal methemoglobin reduction test in one of them. 3. All three cases showed a more pronounced fall in erythrocyte ATP after incubation with phenylhydrazine than that observed in primaquine-sensitive Negroes whose red cells were less deficient in G-6-PD. 4. It is suggested that the inability of the G-6-PD-deficient erythrocyte to maintain adequate levels of ATP may be an important factor in the pathogenesis of the hemolytic process.

scholarly journals Hereditary Nonspherocytic Hemolytic Disease

Blood ◽  
1954 ◽  
Vol 9 (8) ◽  
pp. 749-772 ◽  
Author(s):  
ARNO G. MOTULSKY ◽  
WILLIAM H. CROSBY ◽  
HENRY RAPPAPORT
Keyword(s):  
Cell Survival ◽  
Survival Time ◽  
Hemolytic Anemia ◽  
Hereditary Spherocytosis ◽  
Recessive Gene ◽  
Red Cells ◽  
Red Cell ◽  
Hemolytic Disease ◽  
Erythroid Hyperplasia ◽  
Red Cell Survival

Abstract Extensive studies were performed on four cases from three unrelated kindreds with a familial hemolytic syndrome not associated with any significant red cell anomaly (hereditary nonspherocytic hemolytic disease). These cases were compared with similar ones already reported in the literature. 1. Hereditary nonspherocytic hemolytic disease appears to be transmitted as a Mendelian dominant. Frequently the gene responsible for the condition seems to have low expressivity. In some cases, the hereditary mechanism may be due to inheritance of a recessive gene from each parent. The basic erythrocytic defect responsible for the condition is unknown. In view of various clinical and hematologic findings, it is likely that hereditary nonspherocytic hemolytic disease may be a group of diseases involving more than one mechanism. 2. All criteria of hemolytic anemia (erythroid hyperplasia of the bone marrow, reticulocytosis, hyperbilirubinemia, increased fecal urobilinogen, rapid turnover of tracer iron in the plasma) were satisfied. 3. Red cell survival time studies revealed an intraerythrocytic defect with a mean life span of twelve to seventeen days. Normal red cells transfused into the patients under study survived normally. Anemia was normochromic and normocytic or macrocytic; it varied from mild to severe. 4. Osmotic and mechanical fragility of the red cells was normal. Osmotic and mechanical fragility tests after incubation at 37 C. for 24 hours in some showed a mild increase compared with normal controls. Autohemolysis of incubated oxalated blood was not marked and varied from case to case. 5. The electrophoretic mobility of hemoglobin from the patients was that of normal adult hemoglobin. Small increases of fetal hemoglobin were seen in several cases. 6. In contrast to the histologic findings in hereditary spherocytosis the splenic pulp was not congested, but hemosiderin deposits were heavy. Liver biopsy specimens showed deposits of hemosiderin in parenchymal and Kupffer cells. 7. Splenectomy did not arrest the hemolytic process. Mild improvement was seen in one case. In most cases the operation is of no value. 8. Diagnostic difficulties may be encountered with mild cases of hereditary spherocytosis. Examination of rouleaux in fresh blood and an osmotic fragility test in 0.65 per cent sodium chloride after incubation usually establishes the differential diagnosis. The condition may present clinically as hemolytic disease of the newborn and must be differentiated from erythroblastosis due to Rh or other blood group incompatibilities. Other hereditary hemolytic diseases such as sickle cell anemia, Cooley’s anemia, hereditary spherocytosis, and hereditary hemolytic elliptocytosis are easily ruled out by their typical clinical and hematologic manifestations. When a family study is negative or cannot be done, a red cell survival time determination may be necessary to rule out acquired hemolytic anemia with a negative Coombs test. Some cases that have been diagnosed as constitutional hyperbilirubinemia (familial nonhemolytic jaundice) may actually represent mild hereditary nonspherocytic hemolytic disease.

Automated Differential Agglutination Technic to Measure Red Cell Survival

Transfusion ◽  
1968 ◽  
Vol 8 (2) ◽  
pp. 74-83 ◽  
Author(s):  
I. O. Szymanski ◽  
C. R. Valeri
Keyword(s):  
Cell Survival ◽  
Red Cell ◽  
Red Cell Survival

Erythropoiesis and red cell survival in the hypothyroid dog

1963 ◽  
Vol 204 (3) ◽  
pp. 415-418 ◽  
Author(s):  
Martin J. Cline ◽  
Nathaniel I. Berlin
Keyword(s):  
Cell Survival ◽  
Iron Concentration ◽  
Vitamin B ◽  
Dietary Iron ◽  
Red Cell ◽  
Iron Intake ◽  
Turnover Rates ◽  
Erythrocyte Survival ◽  
Red Cell Survival ◽  
Cell Synthesis

Determinations of blood volume, total red cell volume, plasma and red cell iron turnover rates, and red cell survival were performed in seven dogs prior to and subsequent to radioiodine destruction of the thyroid gland. Anemia developed slowly in all animals as a result of a diminished rate of red cell synthesis. Erythrocyte survival was unaffected by thyroid ablation. Serum iron concentration decreased in five animals despite the apparent adequacy of dietary iron intake and the absence of detectable external loss. In two animals, parenteral administration of iron failed to correct the anemia. Vitamin B12 was ineffective in correcting the anemia or in producing a reticulocyte response in two other animals.

Fibrinogen, Platelet and Red Cell Kinetics in Mice Bearing an Experimental Tumor

1975 ◽  
Author(s):  
A. Poggi ◽  
N. Polentarutti ◽  
M. B. Donati ◽  
G. de Gaetano ◽  
S. Garattini
Keyword(s):  
Cell Kinetics ◽  
Fibrinogen Level ◽  
Low Grade ◽  
Red Cell ◽  
Experimental Tumor ◽  
Tumor Implantation ◽  
The Third ◽  
Red Cell Survival ◽  
Observation Period

In view of the possible role of platelets and coagulation mechanisms in the growth and dissemination of solid tumors, a number of haematological parameters have been followed during development of an experimental syngeneic tumor in mice (Lewis Lung Carcinoma, 3LL). This tumor, when transplanted intramuscularly in C57,B1/6 mice, grows locally and gives spontaneous metastases to the lungs. The transplanted animals survive for about 4 weeks. Metastases are visible since the third week. A slight but constant increase in plasma fibrinogen level and a marked thrombocytopenia were observed starting during the second week after tumor implantation. No other significant changes in coagulation and fibrinolysis parameters were found. Moreover, the animals developed a marked haemolytic anaemia, possibly microangiopathic in origin. 125I-fibrinogen survival was decreased of about 20% during the second week after tumor implantation and was not further reduced later on. Fibrinogen turnover was accelerated since the second week and was further increased thereafter, being more than doubled at the end of the third week. Labelled fibrinogen accumulated in the primary tumor and in the lungs; its rats of disappearance from the tumor was much slower than from lungs or blood. These data suggest the occurrence of a low-grade, localized fibrinogen consumption (intravascular coagulation ?). 51Cr-platelet survival was not modified throughout the observation period, whereas platelet turnover was markedly reduced since the end of the second week, suggesting a defective platelet production. 51Cr-red cell survival was drastically reduced to about 30% of controls starting from the second week, whereas labelled red cell turnover was almost doubled. The pathogenetic relevance of the observed modifications in the processes of grwoth and dissemination of 3 LL remains to be established.(Supported by Grant NIH-PHRB-IRO1 CA 12764–01.

scholarly journals Excess Hemolysis in Subjects with Severe Iron Deficiency Anemia Associated and Nonassociated with Hookworm Infection

Blood ◽  
1965 ◽  
Vol 25 (1) ◽  
pp. 73-91 ◽  
Author(s):  
MIGUEL LAYRISSE ◽  
JESÚS LINARES ◽  
MARCEL ROCHE ◽  
Adelina Ojeda ◽  
Alvaro Carstens ◽  
...  
Keyword(s):  
Iron Deficiency ◽  
Cell Survival ◽  
Iron Deficiency Anemia ◽  
Red Cells ◽  
Deficiency Anemia ◽  
Intrinsic Defect ◽  
Red Cell ◽  
Hookworm Infection ◽  
Iron Treatment ◽  
Red Cell Survival

Abstract An excess hemolysis was found in subjects with iron deficiency anemia associated with hookworm infection. Red cell survival, measured with Cr51 and DFP32 in the subjects before deworming, showed a marked disproportion between the decrease of the survival and the amount of daily intestinal blood loss in most cases. Excess of hemolysis was still present after more than 90 per cent of the parasites were removed. Red cell survival became normal after correction of anemia through iron treatment. Excess of hemolysis was also present in noninfected subjects with iron deficiency anemia due to other causes. The reduction in the survival of the erythrocytes from infected subjects transfused into normal recipients shows that the hemolytic process is due to an intrinsic defect of the red cells. The low values of hemoglobinemia and the presence of haptoglobins in the plasma indicate that hemoglobin has not been liberated in excess intravascularly. Finally, the fact that the red cells from an infected patient taken after deworming survived normally in splenectomized recipients indicates that the spleen is probably the principal site of the red cell destruction. The clinical and autopsy findings suggest that splenic function is not pathologically increased, but rather that this organ is acting physiologically at a more rapid rate, "culling" the abnormal circulating red cells and thus leading to a decrease in red cell survival. The studies presented here also indicate that the hookworm infection per se does not induce hemolysis.

Measurement of red cell survival using biotin-labeled red cells: validation against 51Cr-labeled red cells

Transfusion ◽  
1999 ◽  
Vol 39 (2) ◽  
pp. 156-162 ◽  
Author(s):  
Donald M. Mock ◽  
Gary L. Lankford ◽  
John A. Widness ◽  
Leon F. Burmeister ◽  
Daniel Kahn ◽  
...  
Keyword(s):  
Cell Survival ◽  
Red Cells ◽  
Red Cell ◽  
Red Cell Survival
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