1,721,142 research outputs found
Thrombosis and sickle cell disease
Full text linkSickle cell disease (SCD) is characterized by the presence of sickle hemoglobin, which has the unique property of polymerizing when deoxygenated. The pathophysiology of acute and chronic clinical manifestations of SCD have shown the central role of dense, dehydrated red cells in acute and chronic clinical manifestations of this pathology. Recent studies have indicated that SCD is characterized by a hypercoagulable state that contributes to the vaso-occlusive events in microcirculation, leading to acute and chronic sickle cell-related organ damage. This review discusses, in the context of SCD, (1) abnormalities in the coagulation system, (2) perturbation of platelet activation and aggregation, (3) vascular endothelial dysfunction, (4) the contribution of cell inflammatory responses, and (5) the connection with nitric oxide metabolism. We also review the available studies on the therapeutic approaches in clinical management of hypercoagulability in SCD
Survival and complications in thalassemia
No full textThe life expectancy of patients with thalassemia major has significantly increased in recent years, as reported by several groups in different countries. However, complications are still frequent and affect the patients' quality of life. In a recent study from the United Kingdom, it was found that 50% of the patients had died before age 35. At that age, 65% of the patients from an Italian long-term study were still alive. Heart disease is responsible for more than half of the deaths. The prevalence of complications in Italian patients born after 1970 includes heart failure in 7%, hypogonadism in 55%, hypothyroidism in 11%, and diabetes in 6%. Similar data were reported in patients from the United States. In the Italian study, lower ferritin levels were associated with a lower probability of experiencing heart failure and with prolonged survival. Osteoporosis and osteopenia are common and affect virtually all patients. Hepatitis C virus antibodies are present in 85% of multitransfused Italian patients, 23% of patients in the United Kingdom, 35% in the United States, 34% in France, and 21% in India. Hepatocellular carcinoma can complicate the course of hepatitis. A survey of Italian centers has identified 23 such cases in patients with a thalassemia syndrome. In conclusion, rates of survival and complication-free survival continue to improve, due to better treatment strategies. New complications are appearing in long-term survivors. Iron overload of the heart remains the main cause of morbidity and mortality
Thalassemia trait and arterial thromboembolic events: a systematic review and a meta-analysis of the literature.
No full textThe triplicated alpha-gene locus and heterozygous beta thalassaemia: a case of thalassaemia intermedia.
No full textThe triplicated alpha gene locus has been described independently by Higgs et a1 (1980) and Goossems et aI (1 980). The coinheritance of heterozygous beta-thalassaemia and the additional alpha gene has been recently reported by Kanavakis et aZ(1983). They observed that, in subjects of Greek and Indian origin, the interaction of the two genetic abnormalities is haematologically and clinically indistinguishable from heterozygous beta-thalassaemia. In this paper, we report a case in which the same interaction seems to give rise to a picture of mild thalassaemia intermedia
Intrathoracic masses due to extramedullary hematopoiesis
No full textExtramedullary hematopoiesis often occurs in hemoglobinopathies, hemolytic anemias, leukemias, lymphomas, and myeloproliferative disorders. Liver, spleen, and lymph nodes are frequently involved. However, extramedullary hematopoiesis may also develop in other sites such as thymus, kidney, retroperitoneum, and paravertebral areas of the thorax. Extramedullary hematopoietic masses are often microscopic and asymptomatic, but sometimes they lead to tumor-like masses. We describe massive intrathoracic extramedullary hematopoiesis in a 41-year-old man with compound heterozygosis for beta-thalassemia and sickle cell anemia and functional asplenia. We also describe a 39-year-old man with beta-thalassemia intermedia, who was initially diagnosed as having tumor masses, but was later proved, by magnetic resonance imaging, to have extramedullary erythropoietic tissue. These observations provide further support to include extramedullary hematopoiesis among the differential diagnosis of tumor-like masses in patients with hematologic disease
Does absolute excess of alpha chains compromise the benefit of splenectomy in patients with thalassemia intermedia?
No full text[No abstract available]Camaschella C, 1997, AM J HEMATOL, V55, P83, DOI 10.1002-(SICI)1096-8652(199706)55:283::AID-AJH63.3.CO;2-M; Cappellini MD, 2010, ANN NY ACAD SCI, V1202, P231, DOI 10.1111-j.1749-6632.2010.05548.x; Cappellini MD, 2000, BRIT J HAEMATOL, V111, P467, DOI 10.1046-j.1365-2141.2000.02376.x; Harteveld CL, 2008, BLOOD CELL MOL DIS, V40, P312, DOI 10.1016-j.bcmd.2007.11.006; Harteveld CL, 2005, J MED GENET, V42, P922, DOI 10.1136-jmg.2005.033597; MANNU F, 1995, BLOOD, V86, P2014; SAMPIETRO M, 1983, BRIT J HAEMATOL, V55, P709, DOI 10.1111-j.1365-2141.1983.tb02854.x; SHINAR E, 1990, SEMIN HEMATOL, V27, P70; Sollaino MC, 2009, HAEMATOL-HEMATOL J, V94, P1445, DOI 10.3324-haematol.2009.005728; Taher AT, 2011, BRIT J HAEMATOL, V152, P512, DOI 10.1111-j.1365-2141.2010.08486.x; Taher AT, 2010, J THROMB HAEMOST, V8, P2152, DOI 10.1111-j.1538-7836.2010.03940.x11
Deferasirox (Exjade®) for the treatment of iron overload
No full textDeferasirox is a once-daily oral iron chelator with established dose-dependent efficacy in both adult and pediatric patients with transfusional iron overload. The clinical development program has demonstrated the efficacy of deferasirox for up to 4.5 years of treatment in patients with various underlying anemias, including β-thalassemia, myelodysplastic syndromes, sickle cell disease, aplastic anemia, and other rare anemias. In addition to reducing key indicators of total body iron levels (serum ferritin, liver iron concentration, and toxic labile plasma iron), deferasirox has also demonstrated the ability to remove cardiac iron and prevent future cardiac iron accumulation. Emerging long-term data confirm the tolerability profile of deferasirox, and data on patient compliance render deferasirox a suitable therapeutic option for patients with chronic conditions requiring ongoing iron chelation therapy. Data continue to accumulate in a wide range of patient groups, including those with non-transfusion-dependent anemias such as hereditary hemochromatosis. Copyright © 2009 S. Karger AG, Basel.Adams RJ, 1998, NEW ENGL J MED, V339, P5, DOI 10.1056-NEJM199807023390102; Adams RJ, 2005, NEW ENGL J MED, V353, P2769; Bennett JM, 2008, AM J HEMATOL, V83, P858, DOI 10.1002-ajh.21269; Beutler E, 2007, BLOOD CELL MOL DIS, V39, P140, DOI 10.1016-j.bcmd.2007.03.009; Cappellini M. D., 2008, BLOOD, V112, P3875; Cappellini MD, 2007, CLIN THER, V29, P909, DOI 10.1016-j.clinthera.2007.05.007; Cappellini MD, 2008, HAEMATOL-HEMATOL J, V93, P336; CAPPELLINI MD, 2008, BLOOD, V112, P3878; Cappellini MD, 2007, BLOOD, V110, p816A; Cappellini MD, 2008, BLOOD, V112, P5411; Cappellini MD, 2006, BLOOD, V107, P3455, DOI 10.1182-blood-2005-08-3430; Claster S, 2003, BRIT MED J, V327, P1151, DOI 10.1136-bmj.327.7424.1151; Cohen AR, 2008, BLOOD, V111, P583, DOI 10.1182-blood-2007-08-109306; COSSU P, 1981, EUR J PEDIATR, V137, P267, DOI 10.1007-BF00443255; Daar S, 2009, EUR J HAEMATOL, V82, P454, DOI 10.1111-j.1600-0609.2008.01204.x; Damanhouri G, 2008, BLOOD, V112, P5409; *DIAM BLACKF AN SU, DIAM BLACKF AN SYNDR; Esposito BP, 2003, BLOOD, V102, P2670, DOI 10.1182-blood-2003-03-0807; Galanello R, 2003, J CLIN PHARMACOL, V43, P565, DOI 10.1177-0091270003253350; Galanello R, 2006, HAEMATOL-HEMATOL J, V91, P1343; Garbowski M, 2008, BLOOD, V112, P116; Gattermann N, 2005, HEMATOL ONCOL CLI S1, V19, P1; Gattermann N, 2008, BLOOD, V112, P633; Goubran HA, 2007, BLOOD, V110, p676A; GREENBERG PL, 2008, BLOOD, V112, P5083; Hellstrom-Lindberg E, 2005, SEMIN HEMATOL, V42, pS10, DOI 10.1053-j.seminhematol.2005.01.002; Ibrahim AS, 2007, J CLIN INVEST, V117, P2649, DOI 10.1172-JCI32338; International Agranulocytosis and Aplastic Anemia Study, 1986, JAMA, V256, P1749; Jastaniah W, 2008, PEDIATR BLOOD CANCER, V50, P319, DOI 10.1002-pbe.21260; Kostler E, 2005, EXPERT OPIN PHARMACO, V6, P377, DOI 10.1517-14656566.6.3.377; LEE JW, 2008, BLOOD, V112, P439; LIST AF, 2008, BLOOD, V112, P634; Marsh JCW, 2003, BRIT J HAEMATOL, V123, P782, DOI 10.1046-j.1365-2141.2003.04721.x; MIN YH, 2008, BLOOD, V112, P3649; National Comprehensive Cancer Network, NCCN CLIN PRACT GUID; Nisbet-Brown E, 2003, LANCET, V361, P1597, DOI 10.1016-S0140-6736(03)13309-0; *NOV PHARM CORP, EXJ DEF PRESCR INF N; OLIVIERI NF, 1994, NEW ENGL J MED, V331, P574, DOI 10.1056-NEJM199409013310903; Olivieri NF, 1997, BLOOD, V89, P739; OLIVIERI NF, 1992, BLOOD, V79, P2741; Origa R, 2008, HAEMATOL-HEMATOL J, V93, P1095, DOI 10.3324-haematol.12484; PENNELL D, 2008, BLOOD, V112, P3874; Pennell DJ, 2008, BLOOD, V112, P3873; Pietrangelo A, 2007, BLOOD, V110, p788A; PIETRANGELO A, 2009, J HEPATOL UNPUB; Piga A, 2006, HAEMATOL-HEMATOL J, V91, P873; Piga A, 2008, BLOOD, V112, P3883; PIGA A, 2008, BLOOD, V112, P5413; PORTER JB, 2008, BLOOD, V112, P1048; PORTER JB, 2008, BLOOD, V112, P1419; Porter JB, 2008, BLOOD, V112, P3881; Porterfield D, 2005, WEED TECHNOL, V19, P1, DOI 10.1614-WT-02-006; Porter J, 2008, EUR J HAEMATOL, V80, P168, DOI 10.1111-j.1600-0609.2007.00985.x; Taher A, 2009, EUR J HAEMATOL, V82, P458, DOI 10.1111-j.1600-0609.2009.01228.x; Taher A, 2006, BLOOD CELL MOL DIS, V37, P12, DOI 10.1016-j.bcmd.2006.04.005; Vichinsky E, 2007, BRIT J HAEMATOL, V136, P501, DOI 10.1111-j.1365-2141.2006.06455.x; Vichinsky E, 2005, AM J HEMATOL, V80, P70, DOI 10.1002-ajh.20402; VICHINSKY E, 2008, BLOOD, V112, P1420; Vichinsky E, 2008, ACTA HAEMATOL-BASEL, V119, P133, DOI 10.1159-000125550; Vichinsky E, 2008, AM J HEMATOL, V83, P398, DOI 10.1002-ajh.21119; Wood JC, 2008, BLOOD, V112, P3882; Wood JC, 2006, TRANSL RES, V148, P272, DOI 10.1016-j.trsl.2006.05.005; ZURLO MG, 1989, LANCET, V2, P2726222
Hypercoagulability in non-transfusion-dependent thalassemia
No full textBeta (β)-thalassemia is characterized by a hypercoagulable state and an increased risk of thrombosis, which can result in significant morbidity and mortality. The molecular and cellular mechanisms contributing to hypercoagulability are diverse and include chronic platelet activation, alteration of red blood cell membranes, abnormal expression of adhesion molecules on vascular endothelial cells, and dysregulation of hemostasis. Regular transfusions decrease the risk of thrombosis, whereas splenectomy significantly increases the risk. Splenectomized adults with non-transfusion-dependent thalassemia are also at high risk for ischemic brain damage. Strategies to lower the risk of thrombosis should be considered, including transfusion therapy to raise hemoglobin levels and avoidance or delay of splenectomy. © 2012 Elsevier Ltd.Ataga KI, 2007, BRIT J HAEMATOL, V139, P3, DOI 10.1111-j.1365-2141.2007.06740.x; Atichartakarn V, 2002, BRIT J HAEMATOL, V118, P893, DOI 10.1046-j.1365-2141.2002.03711.x; Atichartakarn V, 2003, INT J HEMATOL, V77, P299, DOI 10.1007-BF02983790; BORENSTAINBENYASHAR V, 1993, AM J HEMATOL, V44, P63; Pignatti CB, 1998, ACTA HAEMATOL-BASEL, V99, P76; Cappellini MD, 2005, ANN NY ACAD SCI, V1054, P317, DOI 10.1196-annals.1345.039; Cappellini MD, 2010, ANN NY ACAD SCI, V1202, P231, DOI 10.1111-j.1749-6632.2010.05548.x; Cappellini MD, 2000, BRIT J HAEMATOL, V111, P467, DOI 10.1046-j.1365-2141.2000.02376.x; Chen SQ, 1996, AM J PHYSIOL-HEART C, V270, pH1951; ELDOR A, 1991, BLOOD, V77, P1749; Eldor A, 2002, BLOOD, V99, P36, DOI 10.1182-blood.V99.1.36; Gillis S, 1999, HAEMATOLOGICA, V84, P959; Kuypers FA, 2004, CELL MOL BIOL, V50, P147; Manfre L, 1999, AM J ROENTGENOL, V173, P1477; MICHAELI J, 1992, ACTA HAEMATOL-BASEL, V87, P71; Musallam KM, 2011, HEMOGLOBIN, V35, P503, DOI 10.3109-03630269.2011.605499; Musallam KM, 2011, EUR J HAEMATOL, V87, P539, DOI 10.1111-j.1600-0609.2011.01706.x; Taher A, 2006, THROMB HAEMOSTASIS, V96, P488, DOI 10.1160-TH06-05-0267; Taher AT, 2008, BLOOD REV, V22, P283, DOI 10.1016-j.blre.2008.04.001; Taher AT, 2010, J THROMB HAEMOST, V8, P2152, DOI 10.1111-j.1538-7836.2010.03940.x; Taher AT, 2010, J THROMB HAEMOST, V8, P54, DOI 10.1111-j.1538-7836.2009.03651.x; Taher AT, 2010, BLOOD, V115, P1886, DOI 10.1182-blood-2009-09-243154; Tavazzi D, 2001, BRIT J HAEMATOL, V112, P48, DOI 10.1046-j.1365-2141.2001.02482.x; Tripodi A, 2009, HAEMATOL-HEMATOL J, V94, P1520, DOI 10.3324-haematol.2009.010546; WIJBURG FA, 1988, EUR J PEDIATR, V147, P444, DOI 10.1007-BF0049643558
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