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)

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

Ninety patients with thalassaemia major were investigated for the occurrence of antinuclear antibodies (ANA), and those with ANA were tested for antibodies to histones (AHA). ANA were detected in 7 of 27 thalassemics on oral iron chelator L1, and in 2 of 63 thalassaemics not on L1 (p < 0.01). AHA were seen in 4 of 7 thalassemics receiving L1 with positive ANA, and in none of the 2 not receiving L1 (p < 0.03). Joint pains were seen in patients receiving L1, but in none of the patients not receiving L1. There was no correlation between hepatitis B or HIV positivity and presence of ANA or joint pains. While some amount of background ANA-positivity was found in patients with thalassaemia major, it was significantly more in patients receiving L1. Laboratory evidence of drug-induced lupus-like reaction was seen only in patients who received L1. In view of serious concerns about the safety of L1 and wide variations in the incidence and severity of adverse reactions reported by different sources, an urgent regulatory audit of all trial centres is essential.
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PMID:Autoantibodies in thalassaemia major: relationship with oral iron chelator L1. 786 14

The non-healing leg ulcer is examined by discussing three disease processes: peripheral vascular occlusive disease (PVOD), chronic venous insufficiency (CVI), and vasculitis. For PVOD, management decisions are based on risk factors and disease history. Comprehensive management includes the discontinuation of smoking, exercise conditioning and regulation of diabetes, hyperlipidemia, hypertension, and the appropriate application of anticoagulant/antiplatelet drugs. Methods of surgical management include bypass with autogenous or synthetic material in addition to reconstructive surgery with patch angioplasty or extra-anatomic bypass, amputation, percutaneous transluminal angioplasty/stents, thrombolytic infusion, atherectomy, intraluminal ultrasound, and angioscopy. The optimal healing environment for all ulcers prevents contamination, pain, and fluid loss. In CVI, higher venous pressure in the veins of the lower limb during exercise results in ambulatory venous hypertension and ulceration. Various theories are associated with the disease and ulceration process; the classic treatment of elevation, ambulation, and compression for venous disease remains unchallenged. Diagnosis is based on history, physical examination, invasive venography, and/or non-invasive studies. Two groups of vasculitic disorders that share varying degrees of vascular inflammation and necrosis are arteritis (lupus, erythematosus, periarteritis nodosa, dermatomyositis) and blood dyscrasias (sickle cell disease, thalassemia). Leg ulcers associated with vasculitis are due to inadequate tissue oxygenation at the local level, are typically chronic, slow to heal, and commonly recur.
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PMID:The non-healing leg ulcer: peripheral vascular disease, chronic venous insufficiency, and ischemic vasculitis. 939 80

It is well known that thalassemic patients exhibit an increased frequency of thrombotic events. Most individuals with resistance to activated protein C (APCR) are the result of a point mutation replacing Arg 506 with Gln in the factor V aminoacidic sequence (factor V Leiden). Recently APCR has been shown to account for up to 50% of cases of thrombophilia. In this report, we describe a 10 year old thalassemic intermedia patient heterozygous for Factor V R506Q who developed a stroke following transfusion. Coagulation laboratory values were all within the normal range and there was no evidence of a lupus anticoagulant. Computerized brain tomography showed an ischemic area in the left temporo-parietal region. At follow-up, plasma from the patient demonstrated APCR and molecular diagnostic testing revealed heterozygosity for factor V R506Q. We suggest that the heterozygosity for factor V Leiden could increase the thrombotic risk in thalassemia intermedia. We believe it may be beneficial to screen all intermedia thalassemic patients for APCR especially before starting a transfusional regimen.
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PMID:Resistance to activated protein C as a risk factor of stroke in a thalassemic patient. 949 70

Anticardiolipin antibodies (ACA) and lupus anticoagulant (LA) have been detected in patients with hepatitis C virus (HCV) infection and have been associated in autoimmune diseases (i.e. systemic lupus erythematosus) with an increased risk of thromboembolic events. Because of the high prevalence of HCV infection and the thrombotic risk described in thalassaemia we decided to investigate the prevalence of ACA and LA in a cohort of 68 thalassaemia patients. We found a high prevalence (34%) of beta2-glycoprotein I independent ACA in our thalassaemia patients which was related to HCV infection. None of patients developed any complications related to antiphospholipid antibodies (APL); therefore the clinical significance of positivity for APL in patients with HCV infection is at present unclear. In conclusion, the results of our study indicate that ACA in the serum of HCV-infected thalassaemic patients exhibit the characteristics of natural autoantibodies rather than those of the pathogenic autoantibodies that are found in patients with systemic lupus erythematosus.
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PMID:Lupus anticoagulant, anticardiolipin antibodies and hepatitis C virus infection in thalassaemia. 973 37

Bone marrow transplantation (BMT) has the potential to treat hemoglobinopathies (sickle cell and thalassemia) autoimmunity (diabetes, lupus, multiple sclerosis, rheumatoid arthritis, Crohn's colitis) and enzyme deficiency states. Graft versus host disease (GVHD) is a major complication and limitation to the therapeutic application of BMT. There have been many clinical trials and experimental animal models that have attempted to control GVHD through the engineering of the donor bone marrow cells (BMC). Historically, several methods have demonstrated effectiveness in controlling GVHD; however they were also associated with a marked increase in the rate of graft failure. Highly purified hematopoietic stem cells (HSC) engraft quite readily in genetically-matched recipients while they do not engraft as easily in MHC-disparate recipients. The numbers of HSC must be increased 100-200 fold in order to overcome the allogeneic barrier. We were the first to phenotypically and to functionally characterize a novel cell in the bone marrow that enables engraftment of highly purified HSC in allogeneic recipients. The discovery of graft facilitating cell populations has resulted in the restoration of the engraftment-potential of purified HSC between genetically-disparate individuals. The addition of facilitating cells (FC) to T cell-depleted BMC grafts results in allogeneic engraftment without GVHD or graft failure. New strategies of BMC engineering that retain FC and HSC but avoid GVHD have allowed successful engraftment in mismatched and older recipients. These techniques have expanded the therapeutic potential of BMT to virtually every candidate as well as to non-malignant diseases in which the morbidity associated with conventional BMT could not be accepted. This article reviews the transition of the FC technology from bench to bedside and discuss the potentially broad-reaching applications of BMT and mixed chimerism.
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PMID:Bone marrow cell graft engineering: from bench to bedside. 1134 54

Allogeneic hematopoietic cell transplantation (HCT) has been successfully used as replacement therapy for patients with aplastic anemia and hemoglobinopathies. Both autologous and allogeneic HCT following high-dose chemotherapy can correct manifestations of autoimmune diseases. The impressive allogeneic graft-versus-tumor effects seen in patients given HCT for hematological malignancies have stimulated trials of allogeneic immunotherapy in patients with otherwise refractory metastatic solid tumors. This session will update the status of HCT in the treatment of benign hematological diseases and solid tumors. In Section I, Dr. Rainer Storb reviews the development of nonmyeloablative conditioning for patients with severe aplastic anemia who have HLA-matched family members. He also describes the results in patients with aplastic anemia given HCT from unrelated donors after failure of responding to immunosuppressive therapy. The importance of leuko-poor and in vitro irradiated blood product transfusions for avoiding graft rejection will be discussed. In Section II, Dr. Guido Lucarelli reviews the status of marrow transplantation for thalassemia major and updates results obtained in children with class I and class II severity of thalassemia. He also describes results of new protocols for class III patients and efforts to extend HCT to thalassemic patients without HLA-matched family members. In Section III, Dr. Peter McSweeney reviews the current status of HCT for severe autoimmune diseases. He summarizes the results of autologous HCT for systemic sclerosis, multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosus, and reviews the status of planned Phase III studies for autologous HCT for these diseases in North America and Europe. He also discusses a possible role of allogeneic HCT in the treatment of these diseases. In Section IV, Dr. Richard Childs discusses the development and application of nonmyeloablative HCT as allogeneic immunotherapy for treatment-refractory solid tumors. He reviews the results of pilot clinical trials demonstrating graft-versus-solid tumor effects in a variety of metastatic cancers and describes efforts to characterize the immune cell populations mediating these effects, as well as newer methods to target the donor immune system to the tumor.
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PMID:Hematopoietic cell transplantation for benign hematological disorders and solid tumors. 1463 91

Sickle cell disease (SCD) is a prevalent genetic disorder that includes sickle cell anemia (hemoglobin SS), hemoglobin SC, and hemoglobin Sb-thalassemia. Patients with SCD present with a defective activation of the alternate pathway of the complement system that increases the risk of capsulate bacteria infection and failure to eliminate antigens, predisposing these patients to autoimmune diseases. The authors describe three patients with SCD that developed systemic lupus erythematosus (SLE). In all patients, SLE diagnosis was delayed because symptoms were initially attributable to SCD. Physicians should be alerted to the possible development of SLE in patients with SCD to not delay the diagnosis and start appropriate treatment.
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PMID:Systemic lupus erythematosus in patients with sickle cell disease. 1800 Jun 98

Although the precise nature of Antiphospholipid antibodies is still not clearly defined, they are known to have association with thromboembolic events and have been found in hepatitis C virus (HCV) infection. Moreover, high prevalence of HCV infection and thrombotic risk is described in thalassemia. We aimed at investigating the prevalence of anticardiolipin antibodies (aCLAbs), lupus anticoagulant (LA), and their relation with HCV infection in Iranian thalassemic patients. Presence of anti-HCV antibody, serum HCV-RNA, aCLAbs, and LA activity was determined in 131 patients with thalassemia major (male/female: 63/68 aged 3-29 years) registered at thalassemia unit, Dastgheib Hospital, Shiraz, Iran. Sixty-one healthy controls were also included. Anti-HCV antibody was positive in 24 (18.3%), IgG aCLAbs in 56 (42.7%), and LA activity in 9 (6.9%) patients. 87.5% of patients positive for aCLAbs had a low titer of aCLAbs. Although none of the participants had a previous history of thrombosis, higher prevalence of aCLAbs was detected in thalassemic patients compared with controls. No significant difference in the prevalence of aCLAbs was found between HCV-infected and noninfected patients. A high prevalence of aCLAbs, the majority in low titers, was detected in Iranian thalassemic patients irrespective of previous history of thrombosis and presence of HCV infection.
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PMID:Antiphospholipid antibodies and hepatitis C virus infection in Iranian thalassemia major patients. 1819 Apr 62

An HIV-infected man receiving antiretroviral therapy-who also had lupus-like vasculitis and membranous glomerulonephritis (treated with prednisolone and azathioprine), beta-thalassaemia minor trait and post-radiotherapy functional asplenia (mimicking sickle cell disease-induced hyposplenism)-developed focal soft issue and bone infection caused by Salmonella enteritidis at the site of previous mycobacterial infection.
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PMID:Focal Salmonella enteritidis infection in a patient with HIV infection and other multiple causes of immunodeficiency. 1857 27


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