Cases reported "Splenomegaly"

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1/4. Interaction of sickle cell trait with hereditary spherocytosis: splenic infarcts and sequestration.

    The association of sickle cell trait (SCT) and hereditary spherocytosis (HS) has been reported in only 18 patients. Three of these 18 patients experienced splenic infarct or acute splenic sequestration. We report here a 46-year-old African-American male, the oldest reported case to date, who experienced episodes of hemolysis and severe left upper quadrant pain for the past 26 years. The patient had compensated hemolysis with splenomegaly. A CT scan of the abdomen revealed a large infarct in the spleen. The diagnosis of SCT was confirmed with isoelectric focusing, cation exchange and reverse-phase HPLC. The presence of a silent, interacting globin variant as the cause of hemolysis and sickling in the spleen was ruled out by sequencing of the alpha1-, alpha2- and beta-globin genes. The diagnosis of HS was established by an osmotic fragility test. The interaction of HS and SCT leads to RBC dehydration with increased MCHC and intracellular Hb S concentration presumably favoring intrasplenic sickling and resultant splenic infarcts and sequestration as seen in this case.
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2/4. Red pulp of the spleen in hereditary elliptocytosis.

    Electron microscopic study of the spleen of an adult with hereditary elliptocytosis demonstrated features of erythrocyte pooling in the splenic cords with decreased red cells in transit through the basement membrane slits between the sinus littoral cells and decreased erythrocytes in splenic sinuses. Cordal reticulum cells, macrophages, and platelets were prominent. light microscopy demonstrated relatively empty sinuses, and electron microscopy confirmed that the sinuses contained variable numbers of intact red cells. The morphology of the splenic red pulp in hereditary elliptocytosis was found to simulate that seen in hereditary spherocytosis but to a lesser degree.
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3/4. Laparoscopic splenectomy for congenital spherocytosis with splenomegaly: a case report.

    The traditional method of splenectomy involves a 7- to 10-cm abdominal incision, with its attendant morbidity that includes sepsis. Recently, the laparoscopic technique has been adopted for splenectomy. Many surgeons still believe that laparoscopic splenectomy should be carried out only for idiopathic thrombocytopenia purpura and Hodgkin's disease with a normal-sized spleen. A 16-year-old girl with marked splenomegaly (spleen size for times normal and weighing 600 g) due to congenital spherocytosis underwent laparoscopic splenectomy and retrieval of the spleen through the umbilical trocar site. Preoperative arterial embolization was not used, and the operative blood loss was estimated to be only 250 mL. Her postoperative course was uncomplicated, and she was discharged on the 4th postoperative day. The operative technique is described and the advantages of laparoscopic splenectomy are discussed.
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4/4. Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40glutamic acid-->lysine substitution in the cytoplasmic domain of band 3 (band 3Montefiore).

    Red blood cell (RBC) protein 4.2 deficiency is often associated with a moderate nonimmune hemolytic anemia, splenomegaly, and osmotically fragile RBCs resembling, but not identical to, hereditary spherocytosis (HS). In the Japanese type of protein 4.2 deficiency (protein 4.2Nippon), the anemia is associated with a point mutation in the protein 4.2 cDNA. In this report, we describe a patient with moderate and apparently episodic nonimmune hemolytic anemia with splenomegaly, spherocytosis, osmotically fragile RBCs, reduced whole cell deformability, and abnormally dense cells. sodium dodecyl sulfate-polyacrylamide gel electrophoresis analysis of the proposita's RBC membrane proteins showed an 88% deficiency of protein 4.2 and a 30% deficiency of glyceraldehyde-3-phosphate dehydrogenase (band 6). Structural and molecular analyses of the proposita's protein 4.2 were normal. In contrast, limited tryptic digestion of the proposita's band 3 showed a homozygous abnormality in the cytoplasmic domain. Analysis of the pedigree disclosed six members who were heterozygotes for the band 3 structural abnormality and one member who was a normal homozygote. Direct sequence analysis of the abnormal band 3 tryptic peptide suggested that the structural abnormality resided at or near residue 40. sequence analysis of the proposita's band 3 cDNA showed a 232G-->A mutation resulting in a 40glutamic acid-->lysine substitution (band 3Montefiore). Allele-specific oligonucleotide hybridization was used to probe for the mutation in the pedigree, showing that the proposita was homozygous, and the pedigree members who were heterozygous for the band 3 structural abnormality were also heterozygous for the band 3Montefiore mutation. The band 3Montefiore mutation was absent in 26 chromosomes from race-matched controls and in one pedigree member who did not express the band 3 structural abnormality. In coincidence with splenectomy, the proposita's anemia was largely corrected along with the disappearance of most spherocytes and considerable improvements of RBC osmotic fragility, whole cell deformability, and cell density. We conclude that this hereditary hemolytic anemia is associated with the homozygous state for band 3Montefiore (40glutamic acid-->lysine) and a decreased RBC membrane content of protein 4.2. We speculate that band 3 structural abnormalities can result in defective interactions with protein 4.2 and band 6, and in particular, that the region of band 3 containing 40glutamic acid is involved directly or indirectly in interactions with these proteins.
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