1/155. Fetal schistocytic hemolytic anemia and umbilical vein varix.A rare case of schistocytic hemolytic anemia presenting in a fetus secondary to a varix of the intra-abdominal umbilical vein is reported. A patient was referred to our hospital at 32 weeks of gestation because of an abnormal hypoechoic finding in the fetal liver. Prenatal ultrasound showed turbulent flow through a 12-mm diameter dilatation of the fetal intra-abdominal umbilical vein consistent with a varix. cardiomegaly also was noted. At birth, the 1098-g, growth-retarded, male neonate was in severe congestive heart failure secondary to anemia as the initial hemoglobin was 5 g/dL. Additional evaluation found the anemia to be secondary to schistocytic hemolysis. After the neonate received a transfusion of packed erythrocytes and supportive care, the anemia quickly resolved, and he was discharged to home doing well after a 6-week stay in the neonatal intensive care unit. Prompt recognition of the varix prenatally and thorough evaluation of the newborn postnatally led to appropriate diagnosis and treatment.- - - - - - - - - - ranking = 1keywords = hemolytic (Clic here for more details about this article) |
2/155. Hemoglobin Moabit: alpha 86 (F7) Leu leads to Arg: a new unstable abnormal hemoglobin.A new alpha chain abnormal hemoglobin variant was found in a Turkish patient with a mild Heinz body hemolytic anemia and splenomegaly. The substitution alpha 86 Leu leads to Arg, which is next to the heme binding proximal histidine, is responsible for a marked instability of the molecule. The oxygen affinity of the erythrocytes was found to be slightly decreased.- - - - - - - - - - ranking = 0.2keywords = hemolytic (Clic here for more details about this article) |
3/155. Neonatal lupus erythematosus with microvascular hemolysis.A female, term newborn born to a mother with a history of idiopathic thrombocytopenic purpura and antinuclear antibodies, single-stranded A antibody, and IgM anticardiolipin antibodies presented with immune thrombocytopenia, disseminated intravascular coagulation (DIC), microangiopathic hemolytic anemia, and a characteristic lupus rash in the periorbital areas. She responded to combined treatment with dexamethasone and intravenous immunoglobulin (IVIG). At age 9 months, she was readmitted with severe thrombocytopenia, DIC, and microangiopathic hemolytic anemia. She again responded to IVIG. This suggests that microangiopathic hemolysis can be a presenting symptom in neonatal lupus erythematosus and that reoccurrence of the microangiopathic hemolysis may occur even after the disappearance of lupus antibodies.- - - - - - - - - - ranking = 0.4keywords = hemolytic (Clic here for more details about this article) |
4/155. Identification of an erythrocyte pyruvate kinase variant in a family from Latium with non-spherocytic congenital haemolytic anaemia.Erythrocyte PK deficiency was detected in a family from Latium in italy. This PK variant is characterized by normal or increased activity immediately after blood collection, instability to storage, to heat and to urea. Only in the propositus the mutant enzyme exhibited an increased Michaelis constant for PEP, slightly increased inhibition by ATP and an altered optimum pH value. The kinetic anomaly was only partially corrected by activation with F-1, 6-DP and by addition of 2-ME. From these results it can be concluded that in the family observed two distinct erythrocyte PK alterations were demonstrable: instability in the propositus and his father; low affinity for PEP and altered optimum pH value only in the propositus.- - - - - - - - - - ranking = 0.15661508664062keywords = anaemia (Clic here for more details about this article) |
5/155. Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from spain: clinical and molecular studies.In four unrelated patients with chronic haemolysis and markedly reduced red blood cell (RBC) glutathione (49.5%, 12.6%, 11.5% and 15% of the normal concentration respectively), a severe glutathione synthetase (GSH-S, EC 6.3.2.3) deficiency was found. One case exhibited a neonatal haemolytic anaemia associated with oxoprolinuria, but without neurological manifestations. The family study revealed GSH-S activity in both parents to be around half the normal level, a finding consistent with the presumed autosomal recessive mode of inheritance of this enzymopathy. Two cases exhibited a well-compensated haemolytic syndrome without anaemia or splenomegaly at steady state. One of these cases was diagnosed after an episode of acute haemolytic anaemia after fava bean ingestion. The remaining patient suffered from moderate to severe chronic non-spherocytic haemolytic anaemia and splenomegaly, and required occasional blood transfusion for a haemolytic crisis associated with drug ingestion. In this patient, the anaemia was corrected by splenectomy. In addition to GSH-S, a panel of 16 other RBC enzyme activities was also studied in all the patients. hexokinase, aldolase, glucose-6-phosphate dehydrogenase and pyruvate kinase activities all increased; these increases were to be expected, given the rise in the number of circulating reticulocytes. In two patients, the incubation of RBCs with hydrogen peroxide revealed an enhanced production of malonyldialdehyde. dna analysis showed a homozygous state for 656 A-->G mutation in patients 2 and 3. The GSH-S gene of patient 1, studied elsewhere, revealed an 808 T-->C. The GSH-S gene of patient 4 was not available for study. The present study demonstrates that GSH-S deficiency is also present in spain and further supports the molecular and clinical heterogeneity of this enzymopathy- - - - - - - - - - ranking = 0.35238394494139keywords = anaemia (Clic here for more details about this article) |
6/155. Hb Mont Saint Aignan [beta128(H6)Ala-->Pro]: a new unstable variant leading to chronic microcytic anemia.Hb Mont Saint-Aignan [beta128(H6)Ala-->Pro] is a mildly unstable variant, associated with hemolytic anemia, marked microcytosis and increased alpha/beta biosynthetic ratio (1.55 versus 1.1 /- 0.1 in the control). The abnormal chain was isolated by selective precipitation with isopropanol and the structural modification determined by protein chemistry methods (reversed phase high performance liquid chromatography and mass spectrometry). Possible mechanisms underlying the beta( )-thalassemia-like expression of this variant are discussed.- - - - - - - - - - ranking = 0.2keywords = hemolytic (Clic here for more details about this article) |
7/155. Successful treatment of neonatal rhesus hemolytic anemia with high doses of recombinant human erythropoietin.The authors report the use of high-dose recombinant erythropoietin (r-HuEPO) in a full-term newborn baby with severe postnatal rhesus hemolytic anemia (RHA). Hemoglobin (Hb) value and reticulocyte count at day 13 of life were 59 g/L and 234 x 10(9)/L, respectively. Three days after the r-HuEPO (870 U/kg/d) administration, reticulocyte count had increased more than 4-fold and Hb rose to 73 g/L. r-HuEPO was gradually decreased after 18 days of treatment. No major side effect was observed. In selected cases of severe anemia due to hemolytic disorders, transfusions may be avoided by the use of high doses of r-HuEPO.- - - - - - - - - - ranking = 1.2keywords = hemolytic (Clic here for more details about this article) |
8/155. Congenital microangiopathic hemolytic anemia and thrombocytopenia with unusually large von willebrand factor multimers and von willebrand factor-cleaving protease.Infantile or congenital cases of thrombotic microangiopathy have been reported that were familial and characterized by ongoing microangiopathic hemolysis and thrombocytopenia in the absence of regular fresh-frozen plasma transfusions. The authors describe a child with congenital microangiopathic hemolytic anemia and thrombocytopenia (CMHAT) who has received regular fresh-frozen plasma transfusions since infancy and has never had thrombotic complications. von willebrand factor (vWF)-cleaving protease activity was studied in the patient's pretransfusion and posttransfusion plasma samples as well as in her parents' plasma. The effects of the patient's and a control subject's plasma on human microvascular endothelial cells were also investigated. Unusually large vWF multimers were present in the patient's plasma both before transfusion (thrombocytopenic) and after transfusion. Unlike cases of chronic relapsing thrombotic thrombocytopenic purpura, vWF-cleaving protease activity was present and treatment of cultured human endothelial cells with the patient's plasma did not induce apoptosis. These findings suggest that the patient with CMHAT may represent a different group in the broad spectrum of thrombotic microangiopathies.- - - - - - - - - - ranking = 1keywords = hemolytic (Clic here for more details about this article) |
9/155. A new glucose-6-phosphate dehydrogenase variant G6PD Sugao (826C-->T) exhibiting chronic hemolytic anemia with episodes of hemolytic crisis immediately after birth.A case of glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolysis with episodes of hemolytic crisis immediately after birth is reported. The propositus was a 1-month-old Japanese male infant. Molecular analysis of the G6PD gene revealed a novel missense mutation (826C-->4T) in exon 8 predicting a single amino acid substitution, Pro276Ser. The mother was confirmed to be heterozygous for this mutation. We designated this novel class 1 variant as G6PD Sugao. Pro276 is a phylogenetically conserved residue that may play a significant role in dimer formation.- - - - - - - - - - ranking = 1.8keywords = hemolytic (Clic here for more details about this article) |
10/155. Hereditary stomatocytosis: membrane and metabolism studies.A defect in the protein kinase-mediated phosphorylation of erythrocyte membrane proteins, previously unrecognized in stomatocytosis, was discovered in a boy with hereditary stomatocytosis and severe hemolytic anemia. The high-sodium, low-potassium erythrocytes of this patient were remarkably permeable to both sodium and potassium. The rate of ouabain-inhibitable active cation transport was more than ten times normal and was sustained by an increase of similar magnitude in glycolysis. The deformability in vitro of fresh stomatocytes was reduced and deteriorated further after a brief period of incubation with glucose. Ferrokinetic studies showed that these rigid cells were sequestered by the spleen. When stomatocytes were deprived of glucose in vitro, ATP depletion and ATPase cation pump failure rapidly ensued. Because of their permeability defect, such depleted cells rapidly became swollen and lysed. Prolonged entrapment in acidic, hypoglycemic regions of the spleen would recapitulate these unfavorable events in vivo. In this regard, splenectomy was followed by an improvement in erythrocyte survival, although evidence of continuing hemolysis was obtained.- - - - - - - - - - ranking = 0.2keywords = hemolytic (Clic here for more details about this article) |
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