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)

Congenital hemolytic anemia associated with pyrimidine 5'-nucleotidase deficiency is reported in two siblings. Both have had moderate chronic hemolytic anemia, splenomegaly, and jaundice since early infancy. The peripheral blood smear is characterized by striking red cell basophilic stippling. As this feature has been found in all previously reported cases, it should be the clue to the diagnosis.
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PMID:A family with red cell pyrimidine 5'-nucleotidase deficiency. 127 72

The case is reported of a 24-year-old Chinese patient with congenital hemolytic anemia (Hb 95 g/l, MCV 71 fl, MCHC 29 g%, reticulocytes 165% RBC). Clinical examination revealed jaundice and marked splenomegaly. Isoelectric focusing of Hb and Hb chains showed the absence of HbA, the presence of rapid Bart's and H Hb and the presence of an alpha chain variant alpha Q-Thailand, alpha 74 Asp----His (confirmation by fingerprinting of Hb). In vitro globin chain synthesis in reticulocytes and erythroblasts indicates that this variant is localized in an alpha-thal-2 chromosome. Furthermore, this variant does not exhibit any transcriptional defect of the alpha Q gene or any instability, since its association with a second alpha-thal-1 chromosome leads to a deficit of alpha chain production identical to that observed in Hb H disease (alpha alpha 0/alpha 0 alpha 0).
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PMID:[Hb Q-H: study of in vitro globin chain synthesis in reticulocytes and erythroblasts]. 378 29

Congenital hemolytic anemia in the Basenji dog resembles pyruvate kinase (PK) deficiency in man as it is characterized by an abbreviated erythrocyte life span, an intense reticulocytosis, type II autohemolysis and splenomegaly. Glucose utilization and lactate production were inadequate with respect to the immature cell population. Analysis of enzymes involved in erythrocyte glycolysis revealed a deficiency of pyruvate kinase.
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PMID:Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. 425 18

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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PMID: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). 847 74

Extramedullary hematopoiesis is a rare condition, characterized by the appearance of hematopoietic elements outside the bone marrow. It occurs primarily in patients with chronic myeloproliferative disorder or congenital hemolytic anemia. We report on a 60-year-old man with hereditary spherocytosis who presented with an extramedullary paraspinal hematopoietic mass, splenomegaly, and bone marrow expansion in the right distal femur and proximal tibia metaphysis. The diagnosis was established after biopsy of the paravertebral mass. The patient underwent a splenectomy.
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PMID:Extramedullary paraspinal hematopoiesis in hereditary spherocytosis. 1240 90

Hyper reactive malarial splenomegaly (HMS) is a relatively rare chronic complication of malaria. Previous name of the disease was Tropical splenomegaly syndrome (TSS). It is seen in endemic zone of malaria. In Bangladesh it is very rare. It is more prevalent in Africa, India, Sri Lanka, Thailand etc. It is due to abnormal immune response to malaria. Recently we got a typical case of HMS in our pediatric department of Community Based Medical College Hospital (CBMCH) Mymensingh. The patient, a seven years old boy came from Haluaghat, Mymensingh, which is a hyper endemic zone of malaria. The boy had history of repeated attack of malaria with huge chronic splenomegaly for five years. Antibody to malaria was positive & titer was markedly raised. Other causes of massive splenomegaly namely chronic Kala azar, Typhoid, congenital hemolytic anemia, Leukaemia, Lymphoma etc were excluded by laboratory examination. The boy was discharged with malaria prophylaxis for a long time & advised to come to our unit every month for further follow up.
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PMID:Hyper reactive malarial splenomegaly (HMS). 1687 6

Among a cohort of 1,213 cases treated for Plasmodium vivax malaria from an isolated Papua New Guinean population, seven adults with severe and sustained hemolytic anemia after clearance of the peripheral parasitemia were prospectively investigated. All the patients fulfilled the criteria for hyper-reactive malarial splenomegaly and in 2 of 7 cases an IgG warm antibody was identified. Hereditary hemolytic anemia was excluded in 5 of 5 patients. All treated cases improved after an initial high dose of prednisone and antimalarial chemoprophylaxis. The persistence of marked anemia in a patient with splenomegaly after a P. vivax attack should raise the suspicion of hyper-reactive malarial splenomegaly.
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PMID:HMS-related hemolysis after acute attacks of Plasmodium vivax malaria. 2197 60

Dehydrated hereditary stomatocytosis (DHSt) is an autosomal dominant congenital hemolytic anemia with moderate splenomegaly and often compensated hemolysis. Affected red cells are characterized by a nonspecific cation leak of the red cell membrane, reflected in elevated sodium content, decreased potassium content, elevated MCHC and MCV, and decreased osmotic fragility. The majority of symptomatic DHSt cases reported to date have been associated with gain-of-function mutations in the mechanosensitive cation channel gene, PIEZO1. A recent study has identified two families with DHSt associated with a single mutation in the KCNN4 gene encoding the Gardos channel (KCa3.1), the erythroid Ca(2+) -sensitive K(+) channel of intermediate conductance, also expressed in many other cell types. We present here, in the second report of DHSt associated with KCNN4 mutations, two previously undiagnosed DHSt families. Family NA exhibited the same de novo missense mutation as that recently described, suggesting a hot spot codon for DHSt mutations. Family WO carried a novel, inherited missense mutation in the ion transport domain of the channel. The patients' mild hemolytic anemia did not improve post-splenectomy, but splenectomy led to no serious thromboembolic events. We further characterized the expression of KCNN4 in the mutated patients and during erythroid differentiation of CD34+ cells and K562 cells. We also analyzed KCNN4 expression during mouse embryonic development.
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PMID:Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis). 2617 67

Thalassemia is the most common human hereditary hemolytic anemia. Due to splenomegaly and hypersp-lenism, splenectomy can be used as a means of treatment for thalassemia. Various complications following splenectomy, however, especially thromboembolic complications are remarkable. This review summarizes the incidence, clinical manifestations and development time of thromboembolism. The pathogenesis of thromboembolism after splenectomy in thalassemia, such as abnormal platelet number and function, changes in red cell membrane, endothelial cell damage, dysfunction of other procoagulant and anticoagulant factors, and local factors associated with splenectomy are elaborated and the trategies to prevent and treat the thromboembolic events in thalassemia after splenectomy, including the attention to risk factors associated with splenectomy, a reassessment of splenectomy, regular blood transfusion to reduce the ratio of abnormal red blood cells, treatment with anticoagulant and antiplatelet drugs, application of hydroxyurea and stem cell transplantation are discussed.
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PMID:[Advances in Pathogenesis and Related Clinical Research of Thromboembolism in Patients with Thalassemia after Splenectomy]. 2734 40

Hereditary spherocytosis is an autosomal dominant congenital hemolytic anemia due to defect in RBC membrane protein that commonly presents with intermittent jaundice, anemia, abdominal pain, splenomegaly and sometimes cholelithiasis. Due to the membrane defect, there is increased fragility, hemolytic anemia, marked splenomegaly and hyperbilirubinemia. This is a report of an 11 years old male diagnosed case of hereditary spherocytosis who presented with jaundice, splenomegaly and cholelithiasis. He underwent elective open splenectomy and cholecystectomy after prophylactic immunization for capsulated organisms and was advised lifelong oral penicillin prophylaxis post-splenectomy.
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PMID:Hereditary Spherocytosis with Splenomegaly and Cholelithiasis in a Young Male of Western Region of Nepal - A Case Report. 2742 90


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