Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seven cases with the syndrome of thalassemia minor and pauciarticular, non-erosive, seronegative arthritis are described. Other known causes of seronegative arthritis had been excluded. There was a predilection for middlesized joints such as ankles, wrists and elbows. Usually the synovitis was asymmetrical from onset, with one to eight joints affected. Finger or toe joint were usually spared. Extraarticular synovitis such as tenosynovitis or bursitis were not observed, nor were nodules, signs of vasculitis or visceral involvement. The course of this arthritis showed chronicity and mild, persistent, non-erosive synovitis without joint effusions. X-ray revealed juxtaarticular osteoporosis of the affected joints, characterized by a diminution of the number of trabeculae (hypertrophic atrophy) combined with broadening of the singular trabeculae; this picture is typical of hemoglobinopathies. - Computed tomography showed a probable slight deficit of bone mineralization. Laboratory investigations including ESR, routine immunological tests, blood chemistry, and HLA-tissue typing were all normal. - The combination of this peculiar arthropathy with thalassemia minor would appear to be worthy of note and requires a further search among the forms of arthritis of unknown origin.
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PMID:[Arthritis in thalassemia minor]. 89 52

Three of five siblings developed a steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis within a four-month period. Two of the siblings with nephrotic syndrome (Patients 1 and 2) also have sickle cell anemia; the third (Patient 3) carries the thalassemia trait. The dizygotic twin brother of Patient 2 has sickle cell anemia, but does not have the nephrotic syndrome. The nephrotic syndrome of patient 1 was resistant to corticosteroid and cyclophosphamide therapy and she developed severe renal failure 14 months after onset. The nephrotic syndrome of Patients 2 and 3 was steroid resistant but was partially responsive to cyclophosphamide therapy. They have persistent proteinuria with mild elevation of serum creatinine concentration and hypertension 5 1/2 years after diagnosis. In this family, the nephrotic syndrome appeared unrelated to the specific hemoglobinopathy, HLA type or mixed lymphocyte culture responsiveness despite the similarity of the renal disease.
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PMID:Familial nephrotic syndrome and focal segmental glomerulosclerosis. 719 18

Thalassemias and hemoglobinopathies are prevalent in Thailand. Bone marrow transplantation can cure thalassemia, but less than 30% of the patients have an HLA-identical sibling. Cord blood is an alternative source of stem cells for transplantation. By prenatal diagnosis, the fetus can be diagnosed as having thalassemic disease. DNA typing for HLA will be performed. Cord blood can be collected for transplantation if the fetus is not affected and is HLA-identical to the patient. We report a successful cord blood transplantation in a patient with beta-thalassemia/hemoglobin E disease.
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PMID:Cord blood transplantation in thalassemia. 774 5

Fetus-to-fetus transplantation has been suggested for the treatment of hemoglobinopathies in utero. However, dissimilar results have to date been obtained by different groups. We describe a case in which fetus-to-fetus transplantation in HLA-identical twins was performed at the 19th week of gestation by infusion of 0.8 ml of fetal blood from normal to beta-thalassemia affected fetus with the main aim of inducing tolerance. No evidence of engraftment, determined by KM19 polymorphism, was present after 2 years of the procedure. Moreover, an alloreactive cytotoxic T lymphocyte precursor (CTLp) study of affected fetus vs donor and other different stimulators showed that immunization vs tolerance was the real effect of the procedure.
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PMID:Evidence of induced non-tolerance in HLA-identical twins with hemoglobinopathy after in utero fetal transplantation. 887 30

This study examined the presence of a persistent state of low-grade inflammation in sickle cell anemia patients by measuring circulating sHLA-I heterodimers and C-reactive protein during the steady state and after recent crises. Thirty-nine pediatric sickle hemoglobinopathy patients were studied during the steady state and 11 patients were evaluated within 1 month of a painful crisis. A disease severity score was generated for each patient, and soluble HLA-I (sHLA-I) and C-reactive protein levels were determined. Soluble HLA-I was significantly elevated in 55% of the steady-state group and in 36% of the recent-crisis group. The percentage of patients with elevated sHLA-I differed in the various disease subgroups in the steady state: 46% of Hb SS patients, 70% of Hb SC patients, 75% of Hb S beta-thal patients, and 20% of Hb SSF patients. Steady-state and recent-crisis sHLA-I levels were not significantly different. C-reactive protein levels were elevated in 11% of steady-state patients and in 9% of recent-crisis patients. Soluble HLA-I levels did not correlate with C-reactive protein levels or disease severity score, age, hemoglobin, reticulocyte count, platelet count, or white cell count. These results show that the majority of sickle hemoglobinopathy patients have elevated sHLA-I levels during the steady state and after recent crisis, suggesting the presence of chronic inflammation during the steady state.
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PMID:Increased circulating levels of soluble HLA class I heterodimers in patients with sickle cell disease. 954 79

We have analyzed the factors associated with engraftment in 216 recipients of T-cell depleted allogeneic HLA identical sibling marrow transplants using Campath 1 monoclonal antihuman lymphocyte (CD52) antibodies. The patient population consisted of 168 patients with hematologic malignancies, 26 with severe aplastic anemia (SAA), and 22 with hemoglobinopathies, half of whom received marrow treated in vitro with Campath-1M (IgM) and half received marrow with Campath-1G (IgG2b isotype). Patients with durable engraftment had fast hematopoietic recovery: SAA patients reached ANC > 0.5 x 10(6)/L on Day 14; those with leukemia attained ANC > 0.5 x 10(6)/L on Days 18, 17, and 15 for ANLL, ALL and CML respectively, while patients with thalasemia reached ANC > 0.5 x 10(6)/L on Day 21. Overall, 24 patients (17 with leukemia, 4 with SAA, and 3 with thalassemia) suffered graft failure: 10 patients (all grafted with Campath-1M) rejected their grafts, while 14 others (9 grafted with Campath-1M, and 5 with 1G isotype) never engrafted (p = 0.009). Multivariate analysis revealed that neither pretransplant protocol, nor stage of disease or type of antibody used, donor sex and ABO match had any impact on engraftment. The variables favorably associated with engraftment were older age (p = 0.030, RR = 1.016) and CFU-GM number (p = 0.013, RR = 1.001). Patients with ANLL or SAA had a better chance to engraft (p = 0.027, RR = 1.400; and p = 0.003, RR = 2.677, respectively) compared to patients with thalassemia (p = 0.001, RR = 0.551). A higher concentration of Campath-1 antibody in vitro and in vivo adversely affected engraftment. Our data show that satisfactory engraftment can be achieved in patients transplanted with Campath-1 treated marrow allografts. However, despite the measures undertaken to prevent rejection, graft failure still poses a problem. Further pretransplant immunosuppression and perhaps more selective T-cell depletion may reduce the increased graft failure in these patients.
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PMID:Engraftment of marrow allografts treated with Campath-1 monoclonal antibodies. 1039 Jan 97

In patients with hemoglobinopathy who are treated by allogeneic matched sibling bone marrow transplantation before the onset of disease-associated organ damage, long term, disease-free survival currently stands at approximately 90%, and transplant-associated mortality is 5% or less. Less toxic nonmyeloablative conditioning regimens that have the potential to reduce procedure-related mortality to even lower levels are under active investigation. Expansion of the donor pool by use of unrelated matched donors awaits improvement in HLA-typing methodology.
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PMID:Bone marrow transplantation for hemoglobinopathies. 1069 95

The authors describe the first successful bone marrow transplant for the treatment of hemoglobinopathy Olmsted in a boy who presented with severe transfusion-dependent hemolytic anemia and jaundice at age 4 months. He received bone marrow from an HLA-identical sibling with normal hemoglobin electrophoresis after conditioning with busulfan, cyclophosphamide, and antithymocyte globulin when he was 18 months old. The posttransplant course was uneventful. Two years after transplantation the patient has a normal hemoglobin level without evidence of hemolysis. DNA analysis shows 100% chimerism of donor cell origin, confirming full engraftment with normal hematopoietic cells.
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PMID:Allogeneic bone marrow transplantation in a child with hemoglobinopathy olmsted. 1214 96

Allogeneic bone marrow transplantation (BMT) from HLA-identical siblings is an accepted treatment for both thalassemia and sickle cell disease (SCD). However, it is associated with decided risk of both transplant-related mortality (TRM) and chronic graft-versus-host disease (GVHD). We analyzed 44 patients (median age, 5 years; range, 1-20 years) given an allogeneic related cord blood transplant for either thalassemia (n = 33) or SCD (n = 11). Thirty children were given cyclosporin A (CsA) alone as GVHD prophylaxis, 10 received CsA and methotrexate (MTX), and 4 patients received other combinations of immunosuppressive drugs. The median number of nucleated cells infused was 4.0 x 10(7)/kg (range, 1.2-10 x 10(7)/kg). No patient died and 36 of 44 children remain free of disease, with a median follow-up of 24 months (range, 4-76 months). Only one patient with SCD did not have sustained donor engraftment as compared with 7 of the 33 patients with thalassemia. Three of these 8 patients had sustained donor engraftment after BMT from the same donor. Four patients experienced grade 2 acute GVHD; only 2 of the 36 patients at risk developed limited chronic GVHD. The 2-year probability of event-free survival is 79% and 90% for patients with thalassemia and SCD, respectively. Use of MTX for GVHD prophylaxis was associated with a greater risk of treatment failure. Related CBT for hemoglobinopathies offers a good probability of success and is associated with a low risk of GVHD. Optimization of transplantation strategies could further improve these results.
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PMID:Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease. 1242 97

Hematopoietic stem cell transplantation (HSCT) is the only curative option for patients with hemoglobinopathies. However, fewer than 30% of individuals will have an HLA-identical sibling. Improvement in outcomes after HSCT using unrelated donors (URD), and the development of novel nontoxic preparative regimens may make URD HSCT an option for hemoglobinopathy patients who do not have an HLA-identical sibling donor. The National Marrow Donor Program (NMDP) maintains a Registry of 4 million volunteer donors, and facilitates URD HSCT for patients with life-threatening blood diseases. In light of the increased representation of minorities in the NMDP registry, donor searches were run in April 2001 for a cohort of 272 thalassemia patients and 77 sickle cell disease (SCD) patients for whom searches had been submitted between 1989 and 2001 in order to determine the current likelihood of finding a potential donor of hematopoietic stem cells for hemoglobinopathy patients. About 59.7% SCD patients 80.2% thalassemia patients will find at least one potential 6/6 HLA matched donor or umbilical cord blood (UCB) unit. All patients will find at least one donor or UCB that is a potential 5/6 HLA match. In conclusion the majority of hemoglobinopathy patients will find at least one potential HLA matched unrelated bone marrow donor or UCB.
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PMID:Availability of unrelated donors for hematopoietic stem cell transplantation for hemoglobinopathies. 1269 19


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