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)

On the occasion of a double heterozygote case of D haemoglobinopathy/beta-thalassaemia (D thalassaemia) from Epirus (Greece), a family study was performed. It comprised 18 members, belonging to 3 generations, and revealed the presence of an additional D thalassaemia case, 4 D haemoglobinopathy heterozygotes, 5 beta-thalassaemia heterozygotes and 7 normal persons. The D thalassaemia cases were initially considered as Hb D homozygotes, according to their electrophoretic phenotype; the family study, however, showed the true nature of their stigmata. These patients presented with mild jaundice, splenomegaly and moderate anaemia, while the Hb D heterozygotes was asymptomatic.
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PMID:Haemoglobin D and D thalassaemia. A family report, comprising 18 members. 80 61

Hematological and biochemical findings in a family with hemoglobin (Hb) Beograd interacting with beta-thalassemia are presented. Hb Beograd (alpha2beta2 121 Gul leads to Val) was found in 3 members. In two members it interacted with beta-thalassemia. These two double heterozygotes had anemia of intermediate severity and splenomegaly. Studies with 51Cr and 59Fe showed a shortened life span of red cells and ineffective erythropoiesis. The abnormal Hb amounted to 86-87%, and Hb F to 5-7%. No Hb A was present. One subject of the family was heterozygous for Hb Beograd. He showed normal clinical and hematological findings. The abnormal hemoglobin was 38%. Four members of the family were heterozygotes for beta-thalassemia. The interaction between beta-thalassemia and beta-chain variants is discussed.
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PMID:Hemoglobin Beograd (alpha2beta2 121 Glu leads to Val) interacting with beta-thalassemia. 80 62

A new unstable hemoglobin, Hb Leslie, has been observed in three generations of a Georgia family. The propositus, a 42-yr-old black veteran with hemolytic anemia and splenomegaly, has a hemoglobin variant with an electrophoretic mobility similar to that of hemoglobin F. The variant comprises about 85% of the total hemoglobin and was isolated by chromatography. Chemical analysis has identified the abnormality as a deletion of the glutaminyl residue in position 131 (H9) of the beta-chain. Deletion of this critical residue which participates in the alpha1beta1 contact causes decreased stability of the hemoglobin without significant changes in functional properties or morphologic abnormalities in the erythrocyte. Family studies revealed hemoglobin Leslie occurring in combination with beta0-thalassemia, HbS, and HbC. All persons with the various Hb Leslie combinations, including the propositus, have no clinical manifestations other than anemia. In some the anemia is fully compensated. There is no history of drug-associated hemolysis.
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PMID:Hb Leslie, an unstable hemoglobin due to deletion of glutaminyl residue beta 131 (H9) occurring in association with beta0-thalassemia, HbC, and HbS. 124 15

Discovery of an enlarged spleen in a child requires steps to identify the etiology. One hundred and seventy-eight patients seen over a four-year period (1985-1988) at the Cocody Teaching Hospital were reviewed. The incidence of splenic enlargement among pediatric inpatients was 1.6%. Males (n = 106) were more often affected than females (n = 72). Slightly over half the children (54.49%) were 0 to 5 years of age. The main clinical presenting features were fever (90%), anemia (72%), a decline in general health (36.50%), enlargement of the liver (33.50%), jaundice (26.50%), and enlarged lymph nodes (7%). Type II of Hackett's classification accounted for most cases (61.80%), followed by Type III (14%). Main etiologies included malaria (53%), salmonella infections (15%), sickle cell anemia (14%), schistosomiasis (9%), AIDS (3%), and thalassemia (2%). Malignancies (leukemia, lymphoma) were relatively infrequent. More than one etiology was found in 13 cases. The distribution of etiologies by age group was determined and a strategy for investigating children with splenic enlargement in tropical countries was developed.
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PMID:[Etiology of splenomegaly in children in the tropics. 178 cases reviewed at the university hospital center of Abidjan-Cocody (Ivory Coast)]. 131 90

Two hundred fifty-one patients of beta-thalassaemia ranging from 3 months to 15 years of age were evaluated. They were maintained on hypertransfusion regimen and received periodic transfusions of group specific packed red cells. These multiple transfused patients were subjected to the tests for detection of transfusion malaria, HBsAg and allo-antibodies against red cells. Malaria infection and HBsAg were detected in 6.4% and 15.5% of patients respectively, while allo-antibodies were detected in 15.5% of patients. Thirteen patients (5.18%) developed hypersplenism and associated pressure symptoms due to splenomegaly for which they underwent splenectomy. Postsplenectomy period was uneventful and showed marked decrease in the frequency and quantitative requirements of transfusions and overall improvement in health. The continuing steady improvement of the prognosis in thalassaemia secondary to hypertransfusion regimen required us to transfer attention to other problems involved in thalassaemia management such as problems of hypersplenism and problems of multiple transfusion.
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PMID:Evaluation of haemotherapy in thalassaemias (20 years of Indian experience). 159 46

We have studied a Portuguese family with a dominant beta-thalassaemia trait that was present in one member of each of three generations. It was characterized by a moderate anaemia, microcytosis and hypochromia, anisopoikilocytosis, Heinz body formation in peripheral red cells, splenomegaly, and a blood transfusion requirement during pregnancy. Sequence analyses of amplified DNA detected a deletion of (G) TG.GCT.GGT.GT(G) at codons 134-137 (Val.Ala.Gly.Val) and the insertion of (G)GC.AG(G) (Gly.Arg) at the same location. Thus, the resulting beta chain has an abnormal structure only at codons 134-137 and is two residues shorter than the normal 146 residues. This chain could not be detected in circulating red cells and must be degraded rapidly by proteolysis because the Heinz bodies consisted mainly of alpha chains.
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PMID:Dominant beta-thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the beta-globin gene. 165 62

The clinical and haematological features of homozygous sickle cell (SS) disease were compared in 30 Greek and 310 Jamacian patients. Deletional alpha-thalassaemia, which modifies SS disease, is rare among Greek patients, so only Jamacian patients with four alpha-globin genes were included in the control group. Greek patients had higher total haemoglobin concentration and red cell counts, and lower mean cell haemoglobin concentration (MCHC) and reticulocyte counts. They also had a more normal body build and more adults had persistent splenomegaly. Fewer had a history of leg ulceration or priapism but more reported acute chest syndrome. The comparatively mild disease in Greek patients is consistent with less haemolysis and sickling and therefore less bone marrow expansion. In the absence of amelioriating factors such as high HbF concentration or alpha-thalassaemia, these findings may be explained by the low MCHC.
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PMID:Comparison of homozygous sickle cell disease in northern Greece and Jamaica. 197 84

Haematological, clinical and some molecular genetic features of homozygous sickle cell (SS) disease in Saudi Arabia have been compared in 33 patients from the Eastern Province (Eastern) and 30 from the South Western Province (Western). Eastern patients all had the Asian beta globin haplotype whereas Western patients were more variable but predominantly of the Benin haplotype. Eastern patients had more deletional alpha thalassaemia, higher total haemoglobin and fetal haemoglobin levels, and lower HbA2, mean cell volume, reticulocytes, and platelet counts. Clinically, Eastern patients had a greater persistence of splenomegaly, a more normal body build and greater subscapular skin fold thickness, and Western patients had more dactylitis and acute chest syndrome. Painful crises and avascular necrosis of the femoral head were common and occurred equally in both groups. The disease in the Eastern province has many mild features consistent with the higher HbF levels and more frequent alpha thalassaemia but bone pathology (painful crises, avascular necrosis of the femoral head, osteomyelitis) remains common. The disease in the West is more severe consistent with the Benin haplotype suggesting an African origin.
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PMID:Two different forms of homozygous sickle cell disease occur in Saudi Arabia. 171 63

We report our experience with high dose intravenous immunoglobulin (IVIg) in 3 thalassemic patients who had evidence of possible immune hemolysis. In 2 patients who had serious sepsis, their responses to IVIg were only partial and transient. The other patient who had marked splenomegaly had no evidence of response to IVIg. Both serious infections and large spleen may hamper the effect of IVIg and should be considered before IVIg is to be used in thalassemia.
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PMID:High-dose intravenous immunoglobulin in the management of immune hemolysis in patients with thalassemic disease: factors which determine refractoriness. 172 38

Haematological and clinical characteristics have been examined in 30 patients with homozygous sickle cell (SS) disease, 28 with sickle cell-beta zero thalassaemia, and 21 with sickle cell-beta+ thalassaemia. The latter could be divided into three groups on their molecular basis and HbA levels, four subjects with an IVS-2 nt 745 mutation having 3-6% HbA (designated S beta+ thalassaemia type I), 14 subjects with an IVS-1 nt 110 mutation having 8-15% HbA (designated S beta+ thalassaemia type II), and three subjects with an IVS-1 nt 6 mutation having 20-25% HbA (designated S beta+ thalassaemia type III). Comparisons were conducted between SS disease, S beta zero thalassaemia, and S beta+ thalassaemia type II. Compared to SS disease, both thalassaemia syndromes had higher HbA2 levels and red cell counts and lower mean cell haemoglobin content (MCHC), mean cell volume (MCV) and MCH, and S beta zero thalassaemia had higher HbF and reticulocyte counts. Compared to S beta zero thalassaemia, S beta+ thalassaemia had a higher haemoglobin and MCHC. Clinically, persistence of splenomegaly was more common in S beta zero and S beta+ thalassaemia type II compared to SS disease. Few significant differences occurred between SS disease, S beta zero and S beta+ thalassaemia type II in Northern Greece suggesting that the 8-15% HbA in the latter condition was insufficient to modify the clinical course.
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PMID:A comparison of sickle cell syndromes in northern Greece. 201 64


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