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

The immune function was assessed in 22 children, adolescents and young adults with asymptomatic hemophilia, and 15 with thalassemia, in Israel. Five patients with hemophilia and two with thalassemia were found to be severely abnormal, having cutaneous anergy, very low T-helper cells, elevated T-suppressor cells, inverted T-helper/suppressor ratio, reduced response to mitogens and antigens, and nonfunctional NK cells. Four of the five hemophilia patients exhibited profound lymphopenia also. Decreased T-helper and mildly elevated T-suppressor cells with inverted T4/T8 ratio were observed in the hemophiliacs as a group. In the severe group, the reduction in T-helpers and T4/T8 ratio was more pronounced. The thalassemics as a group were found to have increased numbers of T-suppressor cells with decreased T-helper cells in those with intact spleen only. Both groups studied were found to have elevated IgG levels and low natural killer (NK) activity and normal response to mitogens. Cutaneous anergy was found to be a reliable indication for severe T-cell dysfunction and may serve as an early indication of impending AIDS. These results indicate that patients with hemophilia and with heavily hypertransfused thalassemia may be at increased risk of AIDS as they approach adolescence.
 ...
PMID:Impaired immune regulation in children and adolescents with hemophilia and thalassemia in Israel. 624 95

A mail survey sent to 25 hemophilia centers in France enquiring on the occurrence of AIDS or AIDS-related disorders was done in May 1983. Of 2 388 hemophiliacs representing approximately 60% of the total expected population, no case of AIDS was found. Four patients had lymphodenopathies. A relatively high frequency of lymphopenia (8%) and hyper gammaglobulinemia (21%) was found. Only 37 patients were tested for T-lymphocyte populations, 14 of whom had a T4/T8 ratio below 1. A state funded multicenter prospective study has been designed in order to evaluate the relationship between the type (domestic or imported factor VIII or IX concentrate), the dose of blood product and various clinical, immunological and virological parameters related to AIDS. Approximately 400 hemophiliacs will enter the study together with a small population of patients with thalassemia receiving packed red cells.
 ...
PMID:[AIDS, related syndromes and hemophilia: the situation in France and studies in progress]. 633 48

IL-7 is produced by stromal cells and is the major lympho- and thymopoietic cytokine. IL-7 induces proliferation and differentiation of immature thymocytes, and protects thymocytes from apoptosis by induction of bcl-2 expression. The regulation of IL-7 production is poorly characterized, although down-regulation by transforming growth factor-beta (TGF-beta) has been described. We measured the serum levels of IL-7 before and after bone marrow transplant (BMT) in 32 children undergoing BMT for genetic diseases (severe combined immune deficiency (SCID) and thalassemia), aplastic anemia, and acute lymphoblastic and non-lymphoblastic leukemia (ALL and ANLL). Prior to BMT, the highest IL-7 levels were observed in patients with SCID and ALL, i.e. those patients with genetic or acquired lymphopenia. Patients with thalassemia and ANLL had normal levels of IL-7. Over the 8 weeks following BMT, the IL-7 levels of patients with SCID and ALL fell as the absolute lymphocyte count (ALC) increased. No detectable change in IL-7 levels was observed in the patients with thalassemia and ANLL. Levels of IL-7 were highest in the young infants with SCID compared to the age-matched controls. Together, the data demonstrate that serum levels of IL-7 in lymphopenic patients are inversely related to patient age and the absolute lymphocyte count (ALC). The inverse relationship to ALC suggests that there is either direct regulation of stromal production or more likely, binding of secreted IL-7 to lymphocytes expressing IL-7 receptors.
 ...
PMID:Serum levels of IL-7 in bone marrow transplant recipients: relationship to clinical characteristics and lymphocyte count. 1023 Nov 40

Patients with sickle cell disease (N = 3) and thalassemia (N = 1) with high-risk features received hematopoietic stem cell transplantations (HCT) to induce stable (full or partial) donor engraftment. Patients were 9-30 years of age. Fludarabine, rabbit anti-thymocyte globulin (ATG), and 200 cGy total body irradiation were administered pre-transplant. Patients received bone marrow (N = 3) or peripheral blood stem cells (N = 1) from HLA-identical siblings, followed by mycophenolate mofetil and cyclosporine for post-grafting immunosuppression. Significant lymphopenia, but only moderate neutropenia and thrombocytopenia developed post transplant. No grade IV nonhematological toxicities or acute graft-versus-host disease (GVHD) were observed. At 3 months after transplantation, three of four patients had evidence of donor myeloid chimerism (range, 15-100%). However, after post transplant immunosuppression was discontinued, graft rejection occurred in all but one patient. This patient is now doing well 27 months post transplant with full donor engraftment. One patient died after a second transplant, and another patient experienced a stroke as her graft was being rejected. These results suggest that stable donor engraftment after nonmyeloablative HCT is difficult to achieve among immunocompetent patients with hemoglobinopathies and that new approaches will need to be developed before wider application of this transplantation method for hemoglobinopathies.
 ...
PMID:Hematopoietic stem cell transplantation for multiply transfused patients with sickle cell disease and thalassemia after low-dose total body irradiation, fludarabine, and rabbit anti-thymocyte globulin. 1553 1

Erythema infectiosum (fifth disease) is the most common clinical presentation of acute parvovirus B19 infection in infancy. In healthy adults, most cases of infection are asymptomatic or accompanied by a flu-like syndrome like headaches and myalgia. Haematological manifestations are dominated by transient aplasia of erythroid progenitor cells which remains asymptomatic in most of non immunocompromised patients. Patients with sickle cell disease, thalassemia or other disorders associated with shortened red blood cell survival are at particular risk for marked anemia or red blood cell aplasia. In immunosuppressed patients, anemia may be chronic because of persistent viral load. Neutropenia, lymphopenia or thrombocytopenia have also been reported in acute parvovirus B19 infection. Mechanisms of these cytopenias are not yet elucidated. We present two patients with thrombopenia and/or neutropenia but without anemia due to acute parvovirus B19 infection.
 ...
PMID:[Neutropenia and/or thrombocytopenia due to acute parvovirus B19 infection]. 1941 Dec 38