Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have described a a 23-year-old black woman with sickle cell beta-thalassemia who had a urinary tract infection and who was incidentally found to be pancytopenic. Although her anemia was categorized as "normocytic, normochromic" by an electronic particle counter, evaluation of the pancytopenia confirmed unsuspected pernicious anemia. Greater vigilance and a higher index of suspicion are crucial for early diagnosis of pernicious anemia in patients with other known hemoglobinopathies.
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PMID:Pancytopenia caused by unsuspected pernicious anemia complicating sickle cell beta-thalassemia. 173 95

The perinatal outcome of 96 patients who had an antenatal haemoglobin value of less than 8.0 g/dl was compared with that of a similar number of controls who were matched for age and parity. Sixty-one patients (63%) had iron deficiency anaemia, 25 (26%) had alpha or beta thalassaemia minor, 7 (7.3%) had iron deficiency and thalassaemia trait, 2 had idiopathic pancytopenia and 1 had haemolytic anaemia due to systemic lupus erythematosus. Patients in the study group attended the antenatal booking clinic later, had less weight gain during pregnancy and their babies had lower birth-weights (2,984 g versus 3,177 g p less than 0.01) although there was no significant difference in the period of gestation at delivery. Six patients in the study group had placental abruption and another 2 patients had stillbirths but neither of these complications occurred in the control group. Although 37 patients (39%) in the study group received an antenatal blood transfusion, 53 (55%) of this group also had postnatal anaemia.
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PMID:A case controlled study of pregnancy complicated by severe maternal anaemia. 193 33

Toxicity to the bone marrow is a frequent limiting factor in the use of high doses of chemotherapeutic agents. Bone marrow transplantation overcomes the marrow toxicity problem, but it is not protective to other organs. Extensive animal studies have been carried out in the mouse, the rat, rhesus monkeys, and dogs to delineate the dose-limiting toxicity of cyclophosphamide (Cytoxan) (CY) therapy. Studies in the dog have shown 100 mg/kg of CY to be lethal with supportive care alone. Dogs given this dose followed by stored autologous marrow recovered after a period of profound pancytopenia and severe gastrointestinal toxicity. This dose of CY also permitted allogeneic engraftment in the dog. Monkeys given up to 200 mg/kg of CY have uneventful hematopoietic recovery, but doses of 240 mg/kg were generally fatal even when stored autologous marrow was infused. Cardiac toxicity was the limiting factor. CY 180 mg/kg was not lethal and permitted successful allogeneic marrow engraftment. CY is successfully used for conditioning leukemia or aplastic anemia patients for bone marrow transplantation. Patients with severe aplastic anemia are conditioned with CY 50 mg/kg on each of four days followed by allogeneic marrow transplantation. Patients undergoing transplantation before transfusion have a long-term survival rate of about 80%. Patients with genetic disorders of the marrow generally have a normocellular or hypercellular marrow, and the preparative regimen must include destruction of the abnormal marrow as well as immunosuppression sufficient to permit engraftment. Patients with thalassemia are treated with dimethylbusulfan 5 mg/kg or busulfan 14 mg/kg followed by CY 50 mg/kg on each of four days. Approximately 100 thalassemia patients have been treated, with a survival rate of approximately 75%. For patients with leukemia, radiotherapy is generally added to the CY conditioning regimen. In the early Seattle studies, 1,000 rad total body irradiation was combined with CY 60 mg/kg on each of two days. There were many early deaths, but some long-term survivors are alive and well 5 to 13 years later. Current regimens involve fractionated total body irradiation and various post-grafting immunosuppressive regimens designed to prevent graft-v-host disease. Complications and problems of current regimens are discussed, and future goals for marrow transplantation are presented.
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PMID:High-dose therapy and bone marrow transplantation. 390 18

An 8-month-old male infant with severe anemia and thrombocytopenia was brought to our hospital due to fever and pallor. The physical examination on admission showed pale conjunctivae, skin rash, lymphadenopathy and hepatosplenomegaly. Subsequent laboratory studies showed pancytopenia, impaired liver function, elevated lactate dehydrogenase level but without evidence of disseminated intravascular coagulation. Bone marrow aspiration demonstrated increased macrophages and prominent hemophagocytosis. The serological studies revealed a recent infection of human herpesvirus-6 which was confirmed by blood mononuclear cell culture and polymerase chain reaction. This infant was also found to have beta-thalassemia which was confirmed by hemoglobin electrophoresis performed before first transfusion. After treatment with intravenous immunoglobulin and other supportive therapies, the bone marrow abnormalities has completely recovered after 5 days, and the hemogram improved. This report demonstrates the human herpesvirus-6 as the etiology of hemophagocytic syndrome.
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PMID:Human herpesvirus-6 associated hemophagocytic syndrome in beta-thalassemia: report of one case. 860 65

The authors have seen transient pancytopenia with erythroid hypoplasia and striking trilineage myelodysplasia reminiscent of true myelodysplastic syndrome (MDS) in 3 children, 1 with thalassemia intermedia and the other 2 with previously undiagnosed hereditary spherocytosis. In these 3 children transient pancytopenia and myelodysplasia coincided with serological evidence of acute parvovirus-B19 (PV-B19) infection, strongly suggesting their relevance. It is of interest that these 3 cases were encountered within a period of 6 months. This might be an incidental event, but it might also be concluded that acute PV-B19 infection associated transient pancytopenia with morphological appearance of MDS may occur more frequently than reported in the literature. So, PV-B19-associated nonclonal MDS should be considered in the differential diagnosis of true clonal MDS.
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PMID:Parvovirus B19 infection reminiscent of myelodysplastic syndrome in three children with chronic hemolytic anemia. 1098 68

Hematopoietic cell transplantation (HCT) has been used for more 30 years for the treatment of selected malignant and nonmalignant diseases. Traditionally, HCT for hematological disorders has relied on myeloablative conditioning before HLA-identical sibling bone marrow transplantation to correct the underlying hematological defect. Most children with hematological diseases who are referred to HCT have features that portend significant morbidity and early mortality. Among SAA patients who have HLA-identical sibling donors, younger patients with profound pancytopenia might be considered early for HCT. For others who lack sibling donors, patients who receive HCT from alternate sources have generally failed one or more courses of intensive immunosuppressive therapy and remain transfusion-dependent, some with hemosiderosis, red cell alloimmunization, and platelet transfusion refractoriness [44,46,48]. Currently, HCT for SCD is generally restricted to those who have experienced a significant sickle-related complication such as stroke, recurrent acute chest syndrome, or recurrent painful episodes [7,13]. In contrast, most reserve HCT in thalassemia for younger, Lucarelli class I, good-risk patients who have HLA-identical sibling donors, and veer away from older, high-risk thalassemics for whom transplantation is a riskier clinical intervention. For groups such as young adults with thalassemia major, HCT might become more widely applicable if its toxicity was reduced. Several approaches undergoing development include reduced-intensity conditioning and attempts to prevent GVHD. New methods to reduce the intensity and toxicity of conditioning as well as to use highly purified stem cells with the reduction in graft versus host disease may allow for the use of matched unrelated donors or haploidentical donors. This would serve to provide potentially more children who could benefit from stem cell transplantation with donors. These advances will hopefully lead to benefits for the majority of children who lack HLA-identical donors.
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PMID:New approaches to hematopoietic cell transplantation for hematological diseases in children. 1243 Jun 22

Early detection and therapy of haematological abnormalities and/or diseases may improve the prognosis of metabolic disorders. Accordingly, we aimed to evaluate the frequency and types of haematological abnormalities in children[-31pc] with various inherited metabolic disorders. The study group comprised 46 children with metabolic disorders who were followed at the Pediatric Metabolism Unit and were referred to the Pediatric Hematology Unit for evaluation of anaemia between June 2000 and 2005. The mean age of the children was 55.2 +/- 64.8 months at haematological evaluation (range 1 month-18 years, median 22.0 months); 16 were female and 30 were male. Of these 46 patients with anaemia, 25 of (54.3%) had anaemia of chronic disease (ACD), 9 (19.6%) had iron-deficiency anaemia (IDA), 7 (15.2%) had megaloblastic anaemia due to vitamin B(12) deficiency, 3 (6.5%) had chronic haemolytic anaemia, 2 (4.3%) had autoimmune haemolytic anaemia, 1 had beta-thalassaemia major, and 1 had hereditary spherocytosis. In addition to the anaemia, bicytopenia or pancytopenia was found in 8 of 46 children (17.4%). The study indicated that in organic acidaemias including methylmalonic acidaemia, propionic acidaemia, isovaleric acidaemia, and argininosuccinic acidaemia, the majority of patients had ACD (75%), which was followed by vitamin B(12) deficiency anaemia and IDA (p < 0.001). In PKU, both nutritional anaemias and ACD were present at about same frequency: 46.7% and 40%, respectively (p > 0.05). This study suggested that congenital anaemias such as hereditary spherocytosis or thalassaemias should be kept in mind as a coexisting haematological diseases in young patients with inborn errors of metabolism. In conclusion, ACD and nutritional anaemias are the most prevalent anaemias seen in patients with inborn errors of metabolism. Early detection of the disease, early administration of specific diet, and close monitoring of the patients are very important factors to prevent the development of haematological diseases in patients with inborn errors of metabolism.
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PMID:Haematological findings in children with inborn errors of metabolism. 1690 72

Coagulation abnormalities are frequently reported in hemolytic anemias (HA). Several pathophysiologic mechanisms are common to different HA. In this review three different hemolytic disorders will be discussed. In sickle cell disease and in beta-thalassemia, a thrombophilic status has been well documented as multifactorial involving hemostatic changes and activation of the coagulation cascade. Moreover, in such disorders, elevated levels of endothelial adhesion protein (ICAM-1, ELAM-1, VCAM-1, von Willebrand factor, and thrombomodulin) are often increased, suggesting that endothelial activation may be involved in vascular occlusion. As an additional mechanism of hypercoagulability in thalassemia, a procoagulant status of thalassemic red cells was recognized. The main clinical manifestation of paroxysmal nocturnal hemoglobinuria (PNH) is HA, and the most common complications are thrombosis, pancytopenia, and myelodysplastic syndrome or acute leukemia. The intravascular hemolysis is explained by a deficiency of glycosil phosphatidylinositol (GPI)-anchored complement regulatory proteins such as CD59 and CD55 on the membrane of red blood cells (RBCs), but the mechanism responsible for the increased incidence of thrombotic events in PNH remains unclear. Recent advances have been made in understanding the coagulation involvement in a heterogeneous group of diseases, thrombotic microangiopathies (TMA) characterized by microangiopathic hemolytic anemia and thrombocytopenia due to platelet clumping in the microcirculation, leading to ischemic organ dysfunction with neurologic symptoms and renal impairment.
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PMID:Coagulation in the pathophysiology of hemolytic anemias. 1802 12

Pancytopenia is a health condition in which there is a reduction in the amount of leucocytes, erythrocytes and thrombocytes. If more than one of the blood cells is low then the condition is called as bicytopenia. The pancytopenic condition is observed in treatment of diseased conditions like thalassemia and hepatitis C. Iatrogenically pancytopenia is caused by some antibiotics and anti-HCV drugs. Medical conditions like aplastic anaemia, lymphoma, copper deficiency, and so forth can also cause pancytopenia. Pancytopenia can in turn decrease the immunity of the person and thereby can be fatal. Current therapies for pancytopenia include bone marrow stimulant drugs, blood transfusion and bone marrow transplant. The current therapies are very excruciating and have long-term side-effects. Therefore, treating these condition using herbal drugs is very important. Herbs like wheatgrass, papaya leaves and garlic are effective in treating single lineage cytopenias. The present review is focused on the potential effects of natural herbs for the treatment of pancytopenia.
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PMID:Herbal approach in the treatment of pancytopenia. 2819 48