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)

McLeod syndrome, characterized by acanthocytosis and the absence of a red-blood-cell Kell antigen (Kx), is a multisystem disorder involving a late-onset myopathy, splenomegaly, and neurological defects. The locus for this syndrome has been mapped, by deletion analysis, to a region between the loci for Duchenne muscular dystrophy (DMD) and chronic granulomatous disease (CGD). In this study, we describe a new marker, 3BH/R 0.3 (DXS 709), isolated by cloning the deletion breakpoint of a DMD patient. A long-range restriction map of Xp21, encompassing the gene loci for McLeod and CGD, was constructed, and multiple CpG islands were found clustered in a 700-kb region. Using the new marker, we have limited the McLeod syndrome critical region to 150-380-kb. Within this interval, two CpG-rich islands which may represent candidate sites for the McLeod gene were identified.
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PMID:Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21. 173 14

A prospective study, aimed to investigate the aetiology of an unusual clustering of cases of severe acute haemolytic anaemia affecting a high percentage of the adult population, was carried out in two isolated Yanomamo communities of the Upper Orinoco basin in Venezuela. Twenty-six patients with active or recent episodes of severe haemolysis were evaluated. All of them exhibited massive liver and spleen enlargement and fulfilled the diagnostic criteria of the hyperreactive malarious splenomegaly (HMS) syndrome. In four cases with advanced non-alcohol-related chronic liver disease, hypersplenism, severe haemolytic anaemia and acanthocytosis, the characteristic clinical and laboratory findings of spur cell anaemia were documented. Chronic infection by the HBV and HCV was present in three of them. However, in most of the 22 additional HMS cases, the acute haemolytic condition appeared associated with the occurrence of a cold agglutinin-mediated autoimmune response. The clustering of a significant number of cases of severe acute haemolysis in HMS patients from this small isolated aboriginal community is most unusual, and represents a serious complicating factor for a population already beleaguered by a high prevalence of malaria due to multiresistant strains of Plasmodium falciparum. Moreover, the coexistence of HMS and severe chronic HBV or HCV infection may further aggravate the course of the haemolytic disorder, because of the occurrence of spur cell anaemia.
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PMID:Spur cell anaemia and acute haemolysis in patients with hyperreactive malarious splenomegaly. Experience in an isolated Yanomamo population of Venezuela. 1111 87

Hereditary spherocytosis (HS) is a congenital and hemolytic anemia characterized by the presence of microspherocytes on the peripheral blood film and negative Coombs test. Although HS is a heterogeneous syndrome in terms of clinical severity, inherents and underlying molecular defects (deficiency of membrane skeleton proteins), typical HS has a dominant inheritance pattern and presents anemia, jaundice and splenomegaly. The purpose of this study was to present our experience and to establish the relationship between hematological and biochemical parameters and osmotic fragility and autohemolysis, all of them considered as traditionally available tests. In our environment, HS is the second most common inherited anemia after beta thalassemia trait. The diagnosis was based on osmotic fragility measurements, autohemolysis test and microspherocytes in 47 patients (45 of latin, 2 of saxon origin); 12 patients had a negative family history. Mean values: RBC (x 10(12)/L) and Hb (g/dL): children (22): 3.84/10.5; adults (25): female (13): 3.54/10.59; masculine (12): 4.65/13.15. Autohemolysis (average %) was very much increased (15.54) and it was corrected by the addition of glucose (4.07). Median osmotic fragility (average g/dL) was increased in both fresh (0.48) and incubated blood (0.65). 76.5% children and 26.7% adults had absence of haptoglobin. Reticulocytes, indirect bilirubin and LDH were increased (average values 336.35 x 10(9)/L, 36.25 mmol/L and 236.48 UI/L, respectively). Microcytosis, spherocytosis, polycromatophylia, acanthocytosis, basophilic stippling, pincered cells were observed in 43, 41, 41, 12, 11, 1 patients respectively. Morphologic alterations were more marked in children. The laboratory findings seemed more a consequence of microcytosis than of spherocytosis.
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PMID:[Microspherocytosis. Erythroid profile and its relation with different laboratory tests]. 1156 70