scholarly journals Atypical Familial Hemolytic Anemia

Blood ◽  
1956 ◽  
Vol 11 (4) ◽  
pp. 324-337 ◽  
Author(s):  
R. K. SMILEY ◽  
H. DEMPSEY ◽  
P. VILLENEUVE ◽  
J. S. CAMPBELL ◽  
BARBARA BEST
Keyword(s):  
Hemolytic Anemia ◽  
Hereditary Spherocytosis ◽  
Red Cells ◽  
Red Cell ◽  
French Canadian ◽  
Blood Group A ◽  
Group A ◽  
Red Cell Survival ◽  
Morphologic Abnormality ◽  
Chronic Hemolytic Anemia

Abstract 1. The genetic, clinical and hematologic features of an atypical chronic hemolytic anemia in two siblings of a French Canadian family have been described. 2. The anemia is normocytic, normochromic and not associated with any characteristic morphologic abnormality of the red cells. 3. Slight increases in osmotic and incubated mechanical fragility, as well as a more definite increase in aumtohemolysis were found which could not be demonstrated after splenectomy. 4. The survival time of normal red cells was shortened before splenectomy in one patient. Normal red cell survival was demonstrated in both patients after splenectomy. 5. The features which differentiate this hemolytic anemia from hereditary spherocytosis are discussed. 6. French or French Canadian ancestry has been noted in some of the reported patients most similar to our own. 7. The association of this type of hemolytic anemia with blood group A has been confirmed in our patients. 8. Splenectomy decreased the severity of the hemolytic process in both patients. This benefit may have resulted from removal of an extracorpuscuar hemolytic mechanism.

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.

scholarly journals The identification of specific Rhesus-polypeptide-blood-group-ABH-active-glycoprotein complexes in the human red-cell membrane

1987 ◽  
Vol 244 (3) ◽  
pp. 735-741 ◽  
Author(s):  
S Moore ◽  
C Green
Keyword(s):  
Cell Membrane ◽  
Blood Group ◽  
Immune Complexes ◽  
Polyacrylamide Gel Electrophoresis ◽  
Red Cells ◽  
Red Cell ◽  
Red Cell Membrane ◽  
Blood Group A ◽  
Group A ◽  
Blood Group Abh

1. RhD,c and E immune complexes isolated from 3H- and 125I-surface-radiolabelled and unlabelled intact human red cells were analysed by SDS/polyacrylamide-gel electrophoresis. 2. Apparent Mr values of 31,900 for RhD polypeptide and 33,100 for Rhc,E polypeptide were obtained under both reducing and non-reducing conditions. Glycosylation of RhD,c and E polypeptides was not detected. 3. RhD,c and E immune complexes also contain a glycoprotein component. RhD glycoprotein (apparent Mr 45,000-100,000) is distinct from Rhc,E glycoprotein(s) (apparent Mr 35,000-65,000). Rh (Rhesus) glycoprotein carbohydrate moieties are susceptible to endo-beta-galactosidase digestion and carry blood-group-ABH determinants. This suggests the presence of polylactosaminoglycan-type structures. 4. Rh glycoproteins are not present in Rh immune complexes as a result of non-specific adsorption of membrane glycoproteins during the membrane-solubilization phase of immune-complex isolation because RhD immune complexes isolated from a 1:1 (v/v) mixture of Acde/cde and OcDE/cDE red cells do not contain blood-group-A-active glycoprotein. 5. Blood-group-A immune complexes isolated from group-A red cells of the appropriate Rh phenotypes contain the 31,900- and 33,100-apparent-Mr Rh polypeptides. 6. It was concluded from the above evidence that non-covalent Rh-glycoprotein-Rh-polypeptide complexes exist in the native red-cell membrane. 7. The 31,900- and 33,100-apparent-Mr Rh polypeptides are absent from blood-group-A immune complexes isolated from regulator type Rhnull cells (donor A.L.), but are replaced by a 33,800-apparent-Mr Rhnull-specific polypeptide (Rhnull polypeptide). It is suggested that Rhnull polypeptide is an aberrant product of the Rh gene complex.

scholarly journals HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA

Blood ◽  
1950 ◽  
Vol 5 (3) ◽  
pp. 233-253 ◽  
Author(s):  
WILLIAM H. CROSBY
Keyword(s):  
Hemolytic Anemia ◽  
Hereditary Spherocytosis ◽  
Red Cells ◽  
Cellular Survival ◽  
The Family ◽  
Group A ◽  
Relationship Of ◽  
Hemoglobin Metabolism

Abstract 1. An hereditary hemolytic anemia is described which is normocytic and normochromic, transmitted as a mendelian dominant and not cured by splenectomy. In the family studied, the anemia was associated but not genetically linked with brachyphalangia. Acute idiopathic porphyria may also have been associated. All anemic members were of blood group A. 2. Neither the degree of anemia nor the rate of hemolysis was favorably influenced by splenectomy. 3. Various studies of erythrocyte fragility and hemoglobin metabolism are presented. 4. Although the red cells in this anemia were more resistant to fragility tests in vitro than the red cells of hereditary spherocytosis, they were more rapidly destroyed in vivo. 5. The disease is differentiated from other hereditary and hemolytic anemias. Of the hereditary anemias, this disease seems most closely to resemble hereditary spherocytosis. Yet the differences of cellular survival in vivo and in vitro and the failure of splenectomy in hereditary nonspherocytic hemolytic anemia suggest a difference in the hemolytic mechanism. 6. The demonstration of porphobilinogen in this patient suggests a possible relationship of this hereditary hemolytic anemia to hereditary porphyria.

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.

scholarly journals Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis

2022 ◽  
Vol 9 (1) ◽  
Author(s):  
Keiko Shimojima Yamamoto ◽  
Taiju Utshigisawa ◽  
Hiromi Ogura ◽  
Takako Aoki ◽  
Takahiro Kawakami ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Hereditary Spherocytosis ◽  
Genetic Diagnosis ◽  
Genomic Analysis ◽  
Japanese Patients ◽  
Asian Countries ◽  
Target Capture ◽  
Detailed Family History ◽  
Target Capture Sequencing ◽  
Chronic Hemolytic Anemia

AbstractHereditary spherocytosis is the most frequent cause of hereditary hemolytic anemia and is classified into five subtypes (SPH1-5) according to OMIM. Because the clinical and laboratory features of patients with SPH1-5 are variable, it is difficult to classify these patients into the five subtypes based only on these features. We performed target capture sequencing in 51 patients with hemolytic anemia associated with/without morphological abnormalities in red blood cells. Thirteen variants were identified in five hereditary spherocytosis-related genes (six in ANK1 [SPH1]; four in SPTB [SPH2]; and one in each of SPTA1 [SPH3], SLC4A1 [SPH4], and EPB42 [SPH5]). Among these variants, seven were novel. The distribution pattern of the variants was different from that reported previously in Japan but similar to those reported in other Asian countries. Comprehensive genomic analysis would be useful and recommended, especially for patients without a detailed family history and those receiving frequent blood transfusions due to chronic hemolytic anemia.

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

scholarly journals Reticulocyte Survival in Sickle Cell Anemia: Effect of Cyanate

Blood ◽  
1972 ◽  
Vol 40 (5) ◽  
pp. 733-739 ◽  
Author(s):  
Blanche P. Alter ◽  
Yuet Wai Kan ◽  
David G. Nathan
Keyword(s):  
Cell Survival ◽  
Sickle Cell ◽  
Fetal Hemoglobin ◽  
Red Cells ◽  
Red Cell ◽  
Hemoglobin Molecule ◽  
Red Cell Survival ◽  
And Control

Abstract Cyanate prevents sickling in vitro and apparently prolongs the survival of 51Cr-tagged sickle erythrocytes in vivo. Cautious interpretation is required because the effects of cyanate on 51Cr binding to sickle and fetal hemoglobin-containing red cells are unknown, and comparison of the effect of cyanate on sickle red cell survival to control red cell survival must be performed sequentially. We have studied the survival of sickle reticulocytes utilizing radioactive amino acids that are incorporated into hemoglobin. Two informed adult patients with sickle cell disease were studied. In each study, two 50-ml samples of blood were incubated separately with 14C- and 3H-leucine for 2 hr, after which 50 mM cyanate was added to one aliquot for 1 hr. The cells were then washed and reinfused. Frequent venous samples were obtained, and the specific activities of 14C and 3H in the hemoglobin were followed. The t ½ of the carbamylated cells was tripled, but remained below normal. This method provides a generally useful measurement of the influence of drugs bound to red cells on reticulocyte lifespan. The labels are incorporated into the hemoglobin molecule of the reticulocyte, and simultaneous comparison of the survivals of the same cohort of drug-treated and control cells is achieved.

THE EFFECT OF SULPHAEMOGLOBIN ON RED CELL VIABILITY

1957 ◽  
Vol 35 (1) ◽  
pp. 1171-1181
Author(s):  
L. G. Israels ◽  
A. Chutorian ◽  
G. E. Delory ◽  
Esther Israels
Keyword(s):  
Cell Viability ◽  
Life Span ◽  
Cell Survival ◽  
Red Cells ◽  
Red Cell ◽  
Disappearance Rate ◽  
Cell Life ◽  
Red Cell Survival ◽  
Calcium Sulphide ◽  
True Measure

Sulphaemoglobinaemia was produced in rabbits by the injection of para-aminopropriophenone and calcium sulphide. The disappearance of this pigment from the blood was used as an index of red cell survival. Sulphaemoglobin disappeared in an exponential fashion, indicating a mean red cell life span of 36 days. The red cells were also tagged with Cr51, and this method of measuring erythrocyte life span yielded values strongly suggesting that sulphaemoglobin in the red cell impairs its viability and leads to random cell destruction. Under these conditions it would seem that the disappearance rate of sulphaemoglobin is not a true measure of red cell survival.

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