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)

Based on the positive international experience with laparoscopic splenectomy on a large number of patients since 1991, we treated two teenagers with symptomatic hereditary spherocytosis and moderate splenomegaly. Both operations and postoperative courses were uneventful, and the children had improved clinically at the one-month control. The aim of this article is to emphasize the good results with the operation worldwide and suggests that the method may be introduced in Denmark.
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PMID:[Laparoscopic splenectomy in children with hereditary spherocytosis]. 1839 16

Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. It is reported worldwide and is the most common inherited anaemia in individuals of northern European ancestry. Clinical severity is variable with most patients having a well-compensated haemolytic anaemia. Some individuals are asymptomatic, whereas others have severe haemolytic anaemia requiring erythrocyte transfusion. The primary lesion in hereditary spherocytosis is loss of membrane surface area, leading to reduced deformability due to defects in the membrane proteins ankyrin, band 3, beta spectrin, alpha spectrin, or protein 4.2. Many isolated mutations have been identified in the genes encoding these membrane proteins; common hereditary spherocytosis-associated mutations have not been identified. Abnormal spherocytes are trapped and destroyed in the spleen and this is the main cause of haemolysis in this disorder. Common complications are cholelithiasis, haemolytic episodes, and aplastic crises. Splenectomy is curative but should be undertaken only after careful assessment of the risks and benefits.
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PMID:Hereditary spherocytosis. 1894 Apr 65

Splenectomy is indicated in hereditary spherocytosis to relieve symptoms due to anaemia or splenomegaly, reverse growth failure or skeletal changes due to over-robust erythropoiesis, and prevent recurrent gallstones. A life-long risk of bacterial infection has been recognised for many years as a concomitant cost of splenectomy. The scope of this risk has expanded to include a number of organisms beyond the triad of pneumococcus, meningococcus, and haemophilus influenzae. Recently, it has been demonstrated that splenectomy also confers a significant risk of delayed adverse vascular events in patients with hereditary spherocytosis, just as it does in patients undergoing splenectomy for other indications. Further, these same studies demonstrated a benefit of avoiding splenectomy: hereditary spherocytosis patients with a spleen have significantly fewer adverse vascular events than unaffected family members, probably because of the protective effect of chronic, mild anaemia. Accordingly, this review marshals the evidence favouring a conservative approach to splenectomy in spherocytosis.
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PMID:Risks and benefits of splenectomy versus no splenectomy for hereditary spherocytosis--a personal view. 1938 26

Hereditary spherocytosis (HS) is an inherited membranopathy characterized by phenotypic and genotypic heterogeneity. This study describes the clinico-hematological profile of 70 HS patients diagnosed at a tertiary care center in North India over a period of five years. Patients commonly presented with intermittent jaundice (82.9%), pallor (80%) and dark colored urine (11.4%). The common signs were splenomegaly (92.9%), hepatomegaly (50%), cholelithiasis or choledocholithiasis (36.8%) and hemolytic facies (10%). Family history was contributory in 28.6% patients. Blood transfusion (BT) requirement was present in 35.7% patients. Unconjugated and conjugated hyperbilirubinemia was seen in 89.1 and 10.9% patients respectively. At presentation, the hemoglobin ranged from 3-14 g/dl with a mean of 9.37 g/dl (SD2.43). Spherocytes were seen in 88.6% and incubated Osmotic fragility test (OFT) was positive in 88.2% patients. The Eosin-5-maleimide (EMA) flow cytometric test was done in 28 patients. Mean fluorescence intensity (MFI) for normal subjects was 11861.5 (SD-883.51) and for confirmed HS patients was 7949.3 (SD1304.1). Taking the MFI range of 5341.1-10 557.5 for HS, eight cases of suspected HS/undiagnosed hemolytic anemia with a negative (n=5) or equivocal (n=3) incubated OFT were diagnosed as HS. An increase in HbF level was seen in 10 cases ranging from 2.1 to 17.7% with a mean of 5.66%, three of these had associated beta thalassaemia trait. Twelve patients (17%) underwent splenectomy and 91% of them did not require any BT post-splenectomy. Among the patients treated conservatively 49% had persisting pallor and 16.3% had transfusion requirement.
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PMID:Clinico-hematological profile of hereditary spherocytosis: experience from a tertiary care center in North India. 1949 Jul 62

We describe a beta-spectrin variant, named beta-spectrin Bari, characterized by a truncated chain and associated with hereditary spherocytosis. The clinical phenotype consists of a moderately severe hemolytic anemia, splenomegaly, and spherocytes and acanthocytes in the blood smear. The occurrence of the truncated protein, that represents about 8% of the total beta-spectrin occurring on the membrane, results in a marked spectrin deficiency. The altered protein is due to a single point mutation at position -2 (A->G) of the acceptor splice site of intron 16 leading to an aberrant beta-spectrin message skipping exons 16 and 17 indistinguishable from that reported for beta-spectrin Winston-Salem. We provide evidence that the mutated gene is transcribed but its mRNA is less abundant than either its normal counterpart or beta-spectrin Winston-Salem mRNA. Our findings are an example of how mutations in different splice sites, although causing the same truncating effect, result in clearly different clinical pictures.
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PMID:Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis. 1960 79

Hereditary spherocytosis (HS) is a genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice and splenomegaly. Evans' syndrome is a clinical syndrome characterized by autoimmune hemolytic anemia (AIHA) accompanied by immune thrombocytopenic purpura (ITP). It results from a malfunction of the immune system that produces multiple autoantibodies targeting at least red blood cells and platelets. HS and Evans' syndrome have different mechanisms of pathophysiology one another. We reported the quite rare case of an infant who had these diseases concurrently. Possible explanations of the unexpected complication are discussed.
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PMID:Complications of Evans' syndrome in an infant with hereditary spherocytosis: a case report. 1974 Apr 48

Hereditary spherocytosis (HS) is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. Although a positive family history of spherocytosis increases the risk for this disorder, it may be sporadic in some cases. In severe cases the disorder may be detected in early childhood, but in mild cases it may go unnoticed until later in adult life. A 27-year-old Nigerian woman presented with mild anemia, jaundice, splenomegaly and a history of multiple blood transfusion. Blood film showed about 70% spherocytes, reticulocytosis of 6.5%, increased osmotic fragility test and a negative direct antiglobulin test. She was managed conservatively on nutritional supplements and a significant regression of symptoms after 6 months was achieved.
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PMID:Hereditary spherocytosis in a 27-year-old woman: case report. 1976 11

Hereditary spherocytosis (HS) is a genetic, frequently familial hemolytic blood disease that presents with varying degrees of hemolytic anemia, splenomegaly, and jaundice.The disease arises as a result of defects in any of a number of proteins responsible for maintaining the shape and flexibility of the red blood cell, resulting in an osmotically fragile and characteristically spherical red blood cell. Theoretically, cardiopulmonary bypass can exacerbate hemolysis and subsequent renal dysfunction.There are few reports of open heart surgery for patients with HS and none for orthotopic heart transplantation.We report a 6-year-old boy with HS who underwent orthotopic heart transplantation.
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PMID:Orthotopic heart transplantation in a child with hereditary spherocytosis. 2061 21

We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert's syndrome (GS). Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression. This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene.
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PMID:A case of concomitant Gilbert's syndrome and hereditary spherocytosis. 2092 16

Hereditary spherocytosis (HS) is a familial hemolytic disorder with marked heterogeneity. A refractory chronic leg ulcer is an uncommon complication of HS, reported in fewer than two percent of patients. We present the case of a 28-year-old man who was suffering from a leg ulcer and was unresponsive to treatment of two years' duration with various conservative modalities. He had been suffering from repeated attacks of jaundice, pallor, and splenomegaly since he was 10 years old. Upon admission, physical and laboratory findings revealed moderate HS. However, complete clearance of the leg ulcer was not achieved until two months after a splenectomy.
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PMID:Hereditary spherocytosis with leg ulcers healing after splenectomy. 2120 15


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