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)

In 1954 a then 31-yr-old male was found to have erythrocytosis. Over the ensuing decade he received 72 mCi32P. In 1964 his daughters were found to have erythrocytosis. Further investigation led to the discovery of hemoglobin Yakima, a variant with high oxygen affinity. He received no further therapy and was well until 1975, when he developed the preleukemic syndrome. Within 12 mo. he developed acute nonlymphocytic leukemia accompanied by fetal erythropoiesis. Because the inital discovery of this type of hemoglobinopathy came 27 yr after the introduction of 32P for use in the treatment of polycythemia vera, and because there are now known to be more than 39 different high-oxygen-affinity hemoglobins, we anticipate that more patients such as ours have been exposed to 32P. The exposed population should be cosely followed, since this will likely permit assessment of the risk of 32P-induced leukemia in a nonneoplastic condition.
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PMID:32P and acute leukemia: development of leukemia in a patient with hemoglobin Yakima. 66 62

Priapism may be primary (idiopathic) or secondary to sickle cell anemia, trauma, leukemia, drugs, venous thromboembolic diseases, and other less common disorders. This study concerns 21 patients with priapism treated during a period of ten years. Nine patients (43%) had sickle cell anemia. Of the 12 individuals (57%) classified as idiopathic, 3 (25%) had previously undergone surgical splenectomy for benign conditions. Considering the propensity for this unusual condition to develop in patients with hemoglobinopathy-induced hyposplenism, the possibility of a relationship between the asplenic state and priapism is considered.
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PMID:Priapism associated with asplenic state. 141 61

Venous thrombosis is a common complication of total parenteral nutrition. We report a case of priapism in a 40-year-old man after administration of total parenteral nutrition for chronic idiopathic intestinal pseudo-obstruction. The patient received glucose, amino acids, and 20% fat emulsion; 12 hours after administration, the patient complained of a persistent, painful penile erection lasting 5 hours. Bilateral corpora cavernosa spongiosum shunts achieved immediate and sustained detumescence, but the patient remained impotent. There was no history of penile or pelvic trauma, hemoglobinopathy, coagulopathy, venous thrombosis, or leukemia. The medical literature describes seven other cases of priapism related to total parenteral nutrition. All of the patients received 20% fat emulsion; two patients developed priapism during the weekly infusion of fat emulsion. Among the multiple factors that can favor thrombosis and therefore priapism during total parenteral nutrition, fat infusion appears to be the most important. Three different mechanisms have been postulated: increase in blood coagulability, effects on red blood cells, and fat embolism. In this patient, platelet function was estimated in vivo by the levels of antiheparin platelet factor 4 and beta-thromboglobulin. These two parameters were both elevated before 20% lipid emulsion and were even higher after the 20% fat-emulsion infusion. Therefore, even if a direct thromboplastic effect is possible, 20% fat emulsion increases platelet activity, which was already high in our patient, and thereby favors priapism.
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PMID:Priapism in a patient treated with total parenteral nutrition. 155 16

We report the cases of 38 children with transfusion-associated HIV infection: 18 hemophiliacs and 2 patients with Von Willebrand disease, 6 with hemoglobinopathies, 8 with malignant diseases or aplastic anemia, 2 transfused during neonatal period and 2 during a surgical operation. Two groups with a different prognosis were found: In group A [hemophilia and Von Willebrand disease (n = 20)] 17 patients were asymptomatic or only with lymphadenopathy; 3 reached stage IV and none died. In group B [Others (n = 14)] 2 patients were asymptomatic, 4 reached stage IV and 8 died, 4 of them directly from AIDS. The difference between both groups was statistically significant. Prognosis of HIV infection is particularly severe in patients with leukemia, malignant tumors and aplastic anemia.
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PMID:[Infection by the HIV virus and transfusions. Study of 38 pediatric cases]. 259 49

Extramedullary hematopoiesis (EMH) is observed in people suffering from severe anemia of prolonged duration and appears to be a compensatory mechanism for disturbed medullary hematopoiesis. The hemoglobinopathies (such as thalassemia, spherocytosis, and sickle cell disease), neoplastic diseases such as leukemia and lymphoma, and others, including myelofibrosis and osteitis fibrosa cystica, are associated with EMH. These diseases and their resultant anemia have in common the ability to stimulate erythropoietin production, which in turn may stimulate hematopoiesis in organs of mesenchymal origin. The liver and spleen are the most common sites of EMH; however, other sites, including the falx cerebri, thoracic cavity, retroperitoneal area and pelvis have been reported. When present, intrathoracic EMH is most frequently associated with thalassemia. Spinal cord compression and hemothorax have also been reported as complications of intrathoracic EMH.
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PMID:Asymptomatic intrathoracic extramedullary hematopoiesis: a report of three cases. 262 Nov 1

Hematologic malignancy has rarely been reported in adults with sickle cell disease. We describe four sickle cell patients (two with hemoglobin SC, two with hemoglobin SS) who developed hematologic malignancy (acute myeloblastic leukemia, multiple myeloma, malignant histiocytosis, and Hodgkin's disease). Three of the cases represent the first adult association between SC or SS hemoglobinopathy and the particular malignancy involved. Sickle hemoglobin does not appear to exert a protective effect against childhood hematologic malignancies, suggesting that better survival in sickle cell disease may be accompanied by an increased incidence of hematologic neoplasms in adulthood. Karyotypic analysis revealed alterations of chromosome 5 in two sickle cell patients with leukemia, raising the possibility of a chromosomal link between the two diseases. Further epidemiologic and cytogenetic studies are needed to define the relationship between hematologic malignancy and sickle cell disease.
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PMID:Hematologic malignancy in sickle cell disease: report of four cases and review of the literature. 345 91

The various etiologies of spontaneous hemarthrosis in adolescents and adults are reviewed: they include systemic diseases and local or regional disorders of the bones or joints. Among systemic diseases, the two main causes are coagulation disorders and hemoglobinopathies. Coagulation disorders may be either acquired (leukemia, thrombopenia, and hypoprothrombinemia induced by anticoagulant drugs with hemarthrosis being one of the major complications) or inherited (hemophilia which is not considered here, von Willebrand disease, and congenital thrombopathies). Hemoglobinopathies, particularly sickle-cell disease, are responsible for hemarthrosis in a few patients. Among local or regional disorders of the bones or joints, tumors such as hemangioma or synovial sarcoma are uncommon causes. Hemarthrosis is the main feature of pigmented villonodular synovitis. Hemarthrosis may occur in degenerative and metabolic diseases: while it is extremely rare in arthritis, it is frequently encountered in articular chondrocalcinosis which is the first diagnosis to consider when hemarthrosis occurs in an elderly patient. The search for an etiology, which is often difficult, should include a review of prior illnesses, a study of coagulation, and local clinical, radiological and biological investigations, with a study of the synovial fluid; in some instances, arthroscopy, synovial biopsy and even surgical exploration are required. Management includes rest, analgesics, antiinflammatory drugs and, above all, arthrocentesis which is essential for the prevention of articular damage and functional sequellae. Specific therapy is dependent on the etiology. In recurrent hemarthrosis, isotopic synoviorthesis may ensure lasting resolution of the effusion.
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PMID:[Spontaneous hemarthrosis in adolescents and adults, excluding hemophilia]. 629 20

Patients receiving chronic transfusion for aplastic anemia or hemoglobinopathy are believed to be at high risk for developing red blood cell alloantibodies, while those undergoing chemotherapy for leukemia are believed to be at low risk. To test this hypothesis, we studied the acquisition of new alloantibodies in 703 transfused patients. While none of 99 patients with lymphocytic leukemia made new antibodies, patients with myelogenous leukemia (16%), hemoglobinopathy (29%), aplastic anemia (11%), gastrointestinal bleeding (11%) or renal failure (14%) made antibodies at statistically similar rates. Lymphocytic leukemia or its treatment is characterized by a lack of immunologic response to transfusion. Patients with hemoglobinopathy or aplastic anemia do not appear at statistically significant greater risk of alloimmunization than many other patients requiring chronic transfusion. Neither intensive chemotherapy for myelogenous leukemia nor the uremia of renal failure significantly suppress the formation of blood group antibodies.
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PMID:Immune response to chronic red blood cell transfusion. 660 81

Our experience at the Ramathibodi Hospital with 20 infants and children who had Aeromonas septicemia is reviewed. Their ages were from 1 day to 14 years. Eighteen patients had underlying diseases: leukemia, 5; aplastic anemia, 4; cirrhosis, 2; thalassemia/hemoglobinopathy, 3; renal failure, 1; ileal perforation, 1; marasmus, 1; and cavernous hemangioma with thrombocytopenia, 1. Blood cultures yielded Aeromonas hydrophila in all patients, and four patients had polymicrobial bacteremia. Fifteen episodes of septicemia were community-acquired and five were hospital-acquired. The clinical manifestations of these patients were similar to septicemia due to other Gram-negative enteric bacilli. Two patients each had ecthyma gangrenosum, necrotizing fasciitis and meningitis. Antibiotic treatment included penicillins, cephalosporins, aminoglycosides and sulfamethoxazole-trimethoprim. The overall case fatality rate was 50%; eight of the nine patients with acute leukemia or aplastic anemia died. With the exception of one child the blood cultures were sterile in all patients before death. Aeromonas septicemia is an uncommon but severe infection which occurs predominantly in compromised hosts.
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PMID:Aeromonas septicemia in infants and children. 672 2

In the years 1991 and 1992, 203 teams in 26 European countries performed 11026 BMT procedures: 4841 allografts and 6185 autografts; 10263 (93%) were performed in those 12 countries which did at least 100 transplants in total and five transplants per 1 million inhabitants per year during this 2-year period. Indications for these 10263 BMT were leukemia in 5080 patients (3294 allo-BMT, 1786 auto-BMT), lymphopro-liferative disorders in 3177 patients (329 allo-BMT, 2848 auto-BMT), solid tumors in 1236 patients (18 allogeneic-BMT), 1218 autologous-BMT), aplastic anemia in 305 patients and hemoglobinopathies or inborn errors of disease in 465 patients (456 allogeneic-BMT, 9 autologous-BMT). The proportion of allogeneic- and autologous-BMT, the main indications and the timing (first complete remission versus later stages) were compared between these 12 countries. Differences and similarities can be observed in all three aspects. They underline previously described differences in Europe which can partially be ascribed to different patient populations but may also be caused by divergent medical opinions.
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PMID:EBMT survey on bone marrow transplant activity in Europe: regional differences. 792 Feb 92


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