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)

Six children, 2 1/2 to 6 years old, with homozygous beta-thalassemia underwent partial splenectomy as indicated by splenomegaly and high blood transfusion requirement. A marked reduction of blood requirement has been achieved in 2 children with an annual blood transfusion volume up to 150 ml per kg body weight. The other four children required total splenectomy as blood requirement remained high and significant splenomegaly developed within few weeks after the partial splenectomy. The immunological function of the spleen residue remains still controversial and needs further evaluation. Partial splenectomy might be indicated therefore only in selected children with homozygous beta-thalassemia.
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PMID:[Partial splenectomy in homozygous beta-thalassemia]. 404 71

Classification of platelet disorders has been based on the platelet count. Addition of a second variable, mean platelet volume (MPV), to the routine blood count allows classification of patients into 9 categories: high, low, or normal MPV, and high, low or normal platelet count. We studied 1,244 adult inpatients. 1,134 had both platelet values normal. 11 patients had high MPV and low platelet count: all had hyperdestructive causes. 15 patients had high MPV and normal platelet count: 12 had heterozygous thalassemia, and three had iron deficiency. Seven patients had high MPV and high platelet count: causes included myeloproliferative disorders, inflammation, iron deficiency, and splenectomy, 25 patients had high platelet counts and normal MPV: the causes were inflammation, infection, sickle cell anemia, iron deficiency, or chronic myelogenous leukemia. 52 patients had an MPV that was inappropriately low for the platelet count (high, normal, or low). All had sepsis, splenomegaly, aplastic anemia, chronic renal failure, or a disease being treated with myelosuppressive drugs. High MPV thus appears correlated with myeloproliferative disease or thalassemia; and low MPV, with cytotoxic drugs or marrow hypoplasia. Addition of MPV to the platelet count allows subtler disorders to be detected (when the platelet count is normal), and allows distinction of the cause of thrombocytopenia.
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PMID:Use of mean platelet volume improves detection of platelet disorders. 407 87

A 2-yr-old black girl presented with a thalassemic clinical picture and was found to have nearly 100% fetal hemoglobin in her red cells. Pedigree analysis indicated that she was a heterozygote for the hereditary persistence of fetal hemoglobin gene and for a beta O-thalassemia gene. A brother, who also had nearly 100% fetal hemoglobin in his red cells, manifested, in contrast to his sister, no anemia and only minimal splenomegaly. Examination of the family's alpha-globin loci using the restriction endonuclease Eco Rl demonstrated that the brother had a single alpha-locus deletion that he had inherited from his mother. The mild clinical manifestations of this boy are consistent with the often expressed view that excess alpha chains may contribute significantly to the hematologic manifestation of beta-thalassemia.
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PMID:The effect of alpha-thalassemia on the expression of the beta-thalassemia/HPFH heterozygote in a black family. 616 20

Patients with homozygous sickle-cell disease may be homozygous for alpha-thalassemia 2 (alpha-/alpha-), may be heterozygous for alpha-thalassemia 2 (alpha-/alpha alpha), or may have a normal alpha-globin-gene complement (alpha alpha/alpha alpha). We compared the clinical and hematologic features of 44 patients who had sickle-cell disease and homozygous alpha-thalassemia 2 with those of controls with the two hematologic conditions. The patients with homozygous alpha-thalassemia 2 had significantly higher red-cell counts and levels of hemoglobin and hemoglobin A2, as well as significantly lower hemoglobin F, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, mean corpuscular volume, reticulocyte counts, irreversibly-sickled cell counts, and serum total bilirubin levels, than those with a normal alpha-globin-gene complement. Heterozygotes (alpha-/alpha alpha) had intermediate values. In the group with homozygous alpha-thalassemia 2, fewer patients had episodes of acute chest syndrome and chronic leg ulceration and more patients had splenomegaly, as compared with patients in other two subgroups. These data confirm previous suggestions that alpha-thalassemia inhibits in vivo sickling in homozygous sickle-cell disease and may be an important genetic determinant of its hematologic severity.
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PMID:The interaction of alpha-thalassemia and homozygous sickle-cell disease. 617 65

The indications and management of blood transfusion in the haemoglobinopathies have been reviewed. The sickle cell diseases that require transfusion support are sickle cell anaemia, sickle haemoglobin-C and -D diseases and sickle beta-thalassaemia. Homozygous beta-thalassaemia (Cooley's anaemia) is the major problem among the thalassaemias. The pathophysiology of the sickle cell disorders is largely based on the secondary effects of increased blood viscosity, whereas in the thalassaemias the defect is ineffective haematopoiesis. In the former the major problems occur as manifestations of vaso-occlusive crises with disseminated bone and abdominal pain, priapism, stroke and leg ulcers. Bone infarction and aseptic necrosis occur but the widespread bone changes, underdevelopment and haemochromatosis that complicate the thalassaemia are not prominent. Transfusion therapy in the sickle cell diseases is mainly episodic and is guided by the frequency of crises and the severity of vaso-occlusive complications. Partial exchange transfusion and the maintenance of haemoglobin A concentrations at 40 to 50 per cent is frequently indicated. In the thalassaemias, maintenance of haemoglobin levels is essential for normal growth and development. The problem of haemochromatosis is very serious. With hypertransfusion regimens the haemoglobin and haemotocrit are maintained above 12-13 g/dl and 35 per cent. The resulting benefit appears to be reduced blood volume, less iron turnover, and less intestinal iron absorption. The splenomegaly in these disorders is frequently associated with hypersplenism requiring well-timed splenectomy. Chronic and intensive chelation is necessary to prevent the ravages of iron overload. The availability of automated equipment for in vivo and ex vivo blood cell separation has brought new possibilities for improving the management of these haemoglobinopathies. It is feasible, but not as yet practical, to offer transfusions of neocytes (red cells with a mean age of 30 days) which have a 50 per cent longer survival than routine red cell preparations (mean age of 60 days). Neocytes can be prepared ex vivo from fresh routine blood donations using blood cell separator devices. The result is reduced transfusion requirements. A more recent suggestion for using the new technology is to remove the patient's oldest and most abnormal corpuscles on the basis of buoyant density and replacing them with neocytes . Thus the short-lived abnormal red cells would be removed before they could unload their iron. With automation it is possible to perform these procedures on an outpatient basis.
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PMID:Transfusion support for haemoglobinopathies. 637 80

Clinical, haematological and biochemical features in 42 subjects with S-beta thalassaemia (31 subjects with S-beta thalassaemia and 11 subjects with S-beta+ thalassaemia); and in 42 with homozygous sickle cell disease were compared. Persistent splenomegaly was more common and painful crises less common in the S-beta thalassaemia group. Total Hb was higher and reticulocyte count lower in S-beta+ thalassaemia than in S-beta thalassaemia or SS disease. Microcytosis was marked in the S-beta thalassaemia group while the MCV was normal in sickle cell anaemia. Hb F was significantly higher in the S-beta thalassaemia group, without any influence on the severity of the disease. Many features suggest that sickle cell thalassaemia is more severe in Algeria than in Negro subjects and similar to the disease in Italian patients.
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PMID:Sickle cell beta-thalassaemia compared with sickle cell anaemia in Algeria. 671 40

Because clinical disorders of spontaneous iron overload have no experimental counterpart, we studied iron distribution (atomic absorption analysis) and intestinal absorption (59Fe) in mice with hereditary alpha-thalassemia. Mice heterozygous for a radiation-induced alpha-Hb gene deletion exhibit a mild hemolytic anemia, like the human condition, with microcytosis, reticulocytosis, splenomegaly, and chemical evidence of defective alpha-chain synthesis. Quantitative iron determination showed that total iron content in spleen, liver, and kidney, but not heart or lung, of adult alpha-thalassemic mice was greater (P less than .05) than that in unaffected littermates. Iron concentration was also increased in liver (P less than .001), spleen (P = .025), kidney (P = .058), and heart (P = .010); in general, the greater the iron concentration in liver, the greater that in spleen (r = .39, P = .009), kidney (r = .70, P less than .001), and heart (r = .46, P less than .001). In mice examined 8 months postoperatively, splenectomy, as compared to sham operation, significantly raised iron content in extrasplenic tissues, but did not affect total body iron. At 10-11 weeks of age, but no longer at 12-14 weeks, thalassemic mice showed higher rates of iron absorption than age-matched controls. Thus, alpha-thalassemic mice display an early occurring iron absorption defect, leading to a modest, sustained, nonprogressive iron overload, and thereby represent a valuable model for exploring disorders of iron homeostasis.
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PMID:Spontaneous iron overload in alpha-thalassemic mice. 673 77

Bone changes of varying degree and distribution were observed by the Authors in 10 carriers of beta-thalassaemia intermedia in skull, ribs, hand, elbow and knee bones. When they are present, skeletal changes are the same of homozygous beta-thalassaemia, but less marked and spread. Instead, symptomatology is more homogeneous, usually characterized by mild anaemia and morphological changes of red cells with haemoglobin values in the 6-11 g/dl range, splenomegaly, jaundice, gallstones, crural ulcers. The clinical state goes through the asymptomatic condition to a more severe condition with typical appearance of Cooley's anaemia.
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PMID:[Skeletal changes in intermediate beta-thalassemia. Clinical and radiological study]. 706 36

The thalassaemias are genetic syndromes brought about by a low or nil synthesis of one or more of the main globinic chains and by consequent imbalance of the normal ratio between alpha and non-alpha chains. Three basic pictures can be distinguished: (1) microcythemia or thalassaemia minima, the expression of heterozygosis for one microcythemic gene, which includes beta, delta beta and alpha microcythemias. Subjects are healthy but very often pale and asthenic, (2) intermediate thalassaemia, very similar to thalassaemia major, though a less severe disease. It is the expression of the presence of microythemic geness which results in a globin synthesis imbalance less marked than that of the thalassaemia major. The patients are frankly anemic and more or less pronounced hyperhemolysis (but they only need sporadic transfusions, usually at adult age), and present splenomegaly often of a considerable extent and hepatomegaly. Their physical growth and reproductive capacity are normal or nearly so and they attain the fifth or sixth decade of life. Two varieties of this syndrome have been identified, namely beta-intermediate thalassaemias (or Rietti-Greppi-Micheli's disease or also constitutional microcythemic anemia) and alpha-intermediate thalassaemias (or Hb H disease); (3) thalassaemia major or Cooley's anemia or Mediterranean anemia, the expression of homozygosis for severe genes of microcythemia which results in a marked globin synthesis imbalance; this is a so severe disease that not treated patients usually die when they are three-four years old. Nowadays, however, prognosis, clinical course and life expectancy of these patients are considerably improved so that they usually attain the third decade of age in relatively fair conditions. There are available three fundamental therapeutic actions: blood transfusions carried out at very short intervals; splenectomy which allows to reduce the rhythm of the blood transfusion regimen; the iron chelating therapy which delays the onset of the iron overloading in the organism. Finally, it is possible the prevention of this disease by preventing the procreation between microcythemics and by prenatal identification of Cooley's foetuses followed by thier selective abortion.
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PMID:[Clinical aspects of thalassemia (or microcythemia)]. 730 Nov 67

Clinical, hematological and genetic studies were carried out on 40 patients with symptomatic sickle-cell disease, selected on the basis of a predominant HbS fraction and absence of other abnormal hemoglobin variants. Family studies showed they included 26 homozygotes for the sickle-cell gene (SS) and 14 double heterozygotes for both the sickle-cell and the (0)beta-thalassemia genes ((S)(0)beta-thalassemia). Comparison of the two groups revealed the more common occurrence of splenomegaly, lower MCV and mCH, and higher HbA2 in (S)(0)beta-thalassemia. Total hemoglobin was slightly lower in SS disease but the difference was not significant. Fetal hemoglobin (HbF) was moderately elevated to similar levels in both groups. These results suggest a high incidence of S beta (0)-thalassemia in certain Brazilian mixed populations and confirm the severity of the double heterozygous state. The distinction between the two disorders is often difficult, but can be made on the basis of the hematological data taken together with family studies.
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PMID:Clinical, hematological and genetic features of sickle-cell anemia and sickle cell-beta thalassemia in a Brazilian population. 741 54


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