Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients in two families had hereditary spherocytosis but lacked a population of RBCs with increased osmotic fragility after incubation. The diagnosis in each patient was confirmed by the presence of splenomegaly, spherocytosis, reticulocytosis, and abnormal autohemolysis corrected by glucose. Sodium flux studies showed increased sodium permeability of the RBC membrane in one patient and normal permeability in another. Hereditary spherocytosis was also present in three other family members of patient 2. The autohemolysis test is of value in confirming the diagnosis in patients with hereditary spherocytosis and normal incubated osmotic fragility.
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PMID:Hereditary spherocytosis with normal osmotic fragility after incubation. Is the autohemolysis test really obsolete? 44 68

A patient with hereditary spherocytosis gave rise to lower levels of both erythrocyte and serum cholesterols and serum lipoproteins than normal subjects. Abnormal shape of the serum lipoprotein particles was observed by electron-microscopic examination as well as the spheroidal shape of red cells. Lipids of fresh spleen tissue of the patient after splenectomy for the treatment of splenomegaly were extracted, isolated and analyzed. Particularly, different glycosphingolipids were also chemically identified and analyzed. The total lipids accounted for 10.7% of the dry tissue weight and consisted of cholesterol (32.2%), simple lipids (5.4%),phospholipids (58.3%) and glycosphingolipids (3.6%). Particularly, the glycosphingolipids were composed of monohexosyl ceramide (9.0%), lactosyl ceramide (31.2%), digalactosylglucosyl ceramide (9.2%), globoside I (27.6%) and hematoside (23.0%). It was found that the globoside I and hematoside increased remarkably in the spleen of patient with hereditary spherocytosis and that monohexosyl ceramide contained not only glucosyl ceramide, but also galactosyl ceramide at the ratio of 4:1.
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PMID:Abnormality of serum lipoprotein and spleen glycosphingolipids in a case of hereditary spherocytosis. 85 83

Hereditary spherocytosis is an haemolitic disease, generally characterized by anaemia, jaundice, and splenomegaly. With reference to data collected in the territory of Quistello, in the Province of Mantova and in the Hospital of the City of Parma, about 280 persons were examined, belonging to the families most affected by hereditary spherocytosis. The results support the hypothesis that the disease is due to an autosomic dominant gene with an almost complete penetrance (0.9). No significant decrease in fitness, measured as a function of fertility, was observed, nor was it possible, from the data examined, to evaluate any correlation between presence of the disease and cases of abortion or perinatal mortality. It is worthy of note that all the observed cases pertain to families that are distributed along the course of the Po River. A biochemical enquiry, based upon an evaluation of the differences in protein composition between the membranes of spherocytes and normal eritrocytes, by electrophoresis on gel of polyacrylamide, gave contrasting results.
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PMID:[Genetic observations on hereditary spherocytosis in some family groups in a region of Mantova north of the Po and/in the province of Parma]. 121 77

A 6-month-old male infant with hereditary spherocytosis (HS) who was the first child of a cousin marriage is presented. The patient had splenomegaly and severe anaemia. Examination of the peripheral blood smear revealed spherocytes and the osmotic fragility of red blood cells was greatly increased. Physical examination of the parents revealed that both parents had mild anaemia, jaundice and splenomegaly. Their peripheral blood smears showed spherocytes and a few acanthocytes. Osmotic fragility of red blood cells of both parents were increased. Red cell membrane electrophoresis indicated a deficiency of ankyrin in the propositus; mild deficiency was also detected in both parents. Electrophoretic patterns of red cell membrane proteins suggested that the child was homozygous for the dominant form of HS associated with ankyrin deficiency, while both parents had the simple dominant form of the disease. Red blood cell transfusions were given to the patient starting at the age of 1 month until splenectomy was performed at the age of 1 year that resulted in complete haematological response. This observation indicates that homozygosity for dominant type of HS associated with ankyrin deficiency is life compatible and splenectomy may cure the anaemia.
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PMID:Homozygosity for dominant form of hereditary spherocytosis. 148 40

145 patients were diagnosed to have hereditary spherocytosis (HS) over a period of 25 years. Jaundice (66.9%), fever (65.5%), weakness (44.8%), and abdominal pain (35.8%) were the commonest complaints. 94.5% had splenomegaly (JP-17 cm) and 71.7% had hepatomegaly (JP-6 cm). Spherocytes were detected in the peripheral smears of all patients at presentation on careful examination. 67 patients had been investigated elsewhere and spherocytes missed in 86.6%. Gall stones were seen in 20 of the 54 patients investigated. Family history suggestive of HS was available in only 16.6% of cases, whereas examination and investigations revealed HS in almost all families. Splenectomy was done in all symptomatic patients. In the 39 patients followed up for 1-9 years after splenectomy.
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PMID:Hereditary spherocytosis: experience of 145 cases. 163 47

A 36-year-old, previously healthy woman was referred to our institution with pancytopenia and splenomegaly for suspected acute leukemia. Bone marrow aspiration showed marked dysplastic changes, excess of blasts, and only spurious red blood cell precursors. Action was taken to prepare allogeneic bone marrow transplantation from an HLA identical sibling for myelodysplastic syndrome. Repeat cytological examination of the bone marrow revealed striking hyperplasia of the red cell line with presence of abnormal giant proerythroblasts. Acute parvovirus B19 infection was suspected and confirmed by detection of anti-B19 IgM and B19 DNA. The underlying disease for this transient aplastic crisis was a formerly unknown hereditary spherocytosis.
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PMID:Acute parvovirus B19 infection mimicking myelodysplastic syndrome of the bone marrow. 173 58

In vitro proteolysis of red cell membranes has been studied by means of electrophoretic separation on SDS-polyacrylamide gel of solubilized ghost proteins and subsequent densitometry of separated, stained bands; the amounts of major membrane proteins were measured in ghosts either with inhibited or with allowed proteolysis in the following cases: 15 patients suffering from hereditary spherocytosis (HS) with variable degree of spleen enlargement, eight cirrhotic patients with spleen enlargement and 12 healthy blood donors as control group. Proteolysis was present to a greater extent in HS patients with larger splenomegaly, lesser in HS with smaller splenomegaly, and was comparable to healthy controls both in splenectomized HS and in patients with spleen enlargement due to liver cirrhosis. The results suggest the involvement of splenomegaly in the enhancement of in vitro proteolysis in HS red cell membrane; it is probably attributable to joint effects of the damage induced in red cells by prolonged retention within haemolysing spleen together with the abnormalities genetically affecting the structure of HS red cell membrane.
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PMID:Role of spleen in hereditary spherocytosis: evidence for increased in vitro proteolysis of red cell membrane. 164 33

Hereditary spherocytosis is a rather uncommon disease in Malaysia as only 16 patients were seen in our hospital over a 13 year period. Pallor, jaundice and splenomegaly were common physical signs. Clinical severity of the disease was variable and more than half of them needed splenectomy. Complications including haemolytic crisis and cholelithiasis were encountered but not aplastic crisis. All 10 patients who underwent splenectomy had uniformly good results and none of them had post-operative complications.
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PMID:Hereditary spherocytosis: a study of 16 patients from University Hospital, Kuala Lumpur. 201 10

We report a Childhood case of hereditary spherocytosis (HS) first diagnosed upon the development of aplastic crisis. A 6-year-old boy presented with fever and anemia. Although there was neither icterus nor splenomegaly at first, mild icterus and splenomegaly gradually developed with improvement of anemia. The diagnosis of HS was made on the basis of the presence of numerous spherocytes on the peripheral smear, increased osmotic fragility and the auto-hemolysis test result. The severe anemia in the early course with a marked decrease in the bone marrow erythroid cells and the absence of icterus and splenomegaly indicate that it was due to aplastic crisis. In the virological study, anti-human parvovirus (HPV) antibody titers were increased: the values of anti-HPV IgM were high and those of anti-HPV IgG were suddenly elevated. We thus considered that this HS case developed aplastic crisis by HPV infection.
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PMID:[Hereditary spherocytosis first diagnosed upon the development of aplastic crisis; a case report]. 254 42

Hereditary spherocytosis is the most common inherited anemia in persons of northern European descent. In 75 percent of cases, the condition is inherited in an autosomal dominant fashion. Patients usually present with splenomegaly, jaundice and anemia. A deficiency of the cytoskeletal protein spectrin is believed to underlie this hemolytic state. Affected individuals display a tendency to form pigmented (bilirubin) gallstones. Splenectomy may be essentially curative in the majority of patients.
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PMID:Hereditary spherocytosis. 264 87


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