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)

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

Priapism, a complication of male patients with sickle hemoglobinopathies, has been managed by a variety of surgical and nonsurgical forms of therapy that often are unsuccessful. The application of automated erythrocytopheresis (red blood cell exchange) by continuous-flow and semicontinuous-flow procedures appears to offer distinct advantages in the treatment of complications resulting from sickle hemoglobinopathies. The successful application of erythrocytopheresis for the relief of priapism in a patient with hemoglobin SC disease is presented and probably represents the first case reported on the use of automated red blood cell exchange procedures in the treatment of this condition. Data and results of automated erythrocytopheresis in 4 additional patients are presented. The advantages and disadvantages of erythrocytopheresis in the treatment of priapism (and other complications of sickle hemoglobinopathies) are discussed and the method is compared to other modes of therapy.
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PMID:Automated erythrocytopheresis for relief of priapism in sickle cell hemoglobinopathies. 663 98

Sickle cell anemia, the most prevalent type of hemoglobinopathy, appears almost exclusively in backs. Since the first report of sickle cell anemia in a Caucasian by Cooley and Lee in 1929 [1], additional cases have been reported, mainly from Mediterranean countries, the Persian Gulf, and India [2]. Several cases were also found among Arabs in Israel with a relatively benign clinical course [3, 4]. The present report describes a unique case of sickle cell anemia associated with alpha-thalassemia in a non-black young adult. The diagnosis was made at the age of 23 years. Severe priapism was almost the first manifestation of the disease and subsided following transfusion of five units of packed red blood cells.
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PMID:Priapism in a non-black with sickle cell anemia associated with alpha-thalassemia. 724 38

Priapism and acute neurological events are believed to be unrelated complications of sickle cell hemoglobinopathy. We describe a syndrome based on our experience and a review of the literature of significant neurological events after partial exchange transfusion to treat priapism in sicklemic patients. Severe headache is often the initiating symptom of this complex. The ensuing neurological events range from seizure activity to obtundation requiring ventilatory support. The proposed pathophysiology of these neurological events is related to cerebral ischemia after an acute increase in per cent total hemoglobin, concomitant decrease in per cent hemoglobin S and subsequent release of vasoactive substances during penile detumescence. We have termed this constellation of events the ASPEN syndrome, an eponym for association of sickle cell disease, priapism, exchange transfusion and neurological events. Early recognition and aggressive medical management resulted in complete reversal of neurological sequela.
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PMID:Association of sickle cell disease, priapism, exchange transfusion and neurological events: ASPEN syndrome. 841 32

Recurring periods of prolonged erections in patients with sickle cell disease (stutter priapism) are uncommon, yet troubling sequelae of hemoglobinopathies. Medical or surgical therapy is variably successful in these men. We report a case of stutter priapism successfully treated with an oral antiandrogen.
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PMID:Successful treatment of stutter priapism with an antiandrogen. 980 Sep 2

Therapeutic erythrocytapheresis (TEA) has been used in different diseases such as polycythemia vera (PV), secondary erythrocytosis or hemochromatosis as a process of the less cumbersome but more expensive phlebotomy. TEA is preferred in emergency conditions such as thrombocytosis or in conditions such as porphyria cutanea tarda (PCT) or erythropoietic porphyria when plasma exchange (PEX) is often combined with TEA to reduce extracellular levels of uroporphyrin which contribute to plasma hyperviscosity. TEA is often combined with drug therapy that varies from etoposide in PV to EPO and desferoxamine which are used to mobilize and reduce iron stores in hemochromatosis. Benefits from this combination may be more long lasting than expected. Nonetheless for TEA, there is no standard protocol and, clinical experience with this therapy remains highly anecdotal. Therapeutic red cell-exchange (TREX) has been used with much interest over the years, starting with the management of hemolytic disease of the newborn and later used to correct severe anemia in thalassemia patients thereby preventing iron overload. It has also been used for the management of complications of sickle cell disease such as priapism, chest syndrome, stroke, retinal, bone, splenic and hepatic infarction or in preparation for surgery by reducing HbS to less than 30%. Automated apheresis has also favored the use of TREX in conditions such as paroxysmal nocturnal hemoglobinuria and aniline poisoning, arsenic poisoning, Na chlorate intoxications and CO intoxications, hemoglobinopathies, autoimmune hemolytic anemia, reactions due to ABO incompatibility, in preparation for ABO incompatible bone marrow transplantation or for preventing anti-D immunization after the transfusion of D(+) cells to D(-) recipients. Another field of application has been in the emergency management of intraerythrocytic parasite infections such as malaria and babesiosis. Application of TREX may be wide but its real use remains limited. In our personal experience, in 16 years, only 167 TREX procedures have been carried out in a total of 13,747 therapeutic procedures. This represents only 1.21% of the total.
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PMID:Clinical application of therapeutic erythrocytapheresis (TEA). 1083 21

Intracavernous injection (ICI) of adrenergic agonists has recently been proposed for treatment of priapism associated with sickle cell hemoglobinopathy and appears to be effective in cases less than 28 hours old. The purpose of this study was to confirm the usefulness of this technique in a large series of patients. From January 1996 through September 1998, 19 patients with sickle cell disease were treated by ICI of etilefrine for one or several episodes of low-flow priapism lasting between 2 hours and 15 days. A total of 72 consecutive ICI were performed alone in patients with priapism less than 6 hours old or in combination with prior drainage in patients with priapism more than 6 hours old. Results depended mainly on the delay to treatment. Detumescence was achieved in all 10 cases treated within 29 hours as opposed to only 2 of 9 cases treated beyond 29 hours. This finding is in agreement with experimental findings demonstrating histological evidence of necrosis of endothelial cells and cavernous smooth muscle fibers after 24 hours. However based on our experience showing that good results with preservation of erectile function can be achieved after delays longer than 40 hours (42 hours and 5 days in two of our patients), we recommend that treatment by ICI be tried before surgery in sickle cell anemia patients even with long-standing priapism. Untoward side effects including intense pain in the penis and retrosternal pain were observed in 4 patients. ICI of adrenergic agonists is one of the best treatment currently available for management of priapism in patients with sickle cell disease. Surgery should be used only after failure of ICI.
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PMID:[Sickle cell disease priapism: treatment with intracavernous injections of etilefrine]. 1098 88

Sickle cell anemia (SCA) is one of the commonly inherited hemoglobinopathies in the Kingdom of Saudi Arabia. It is characterized by periods of remissions and exacerbations called crises as well as certain pathological phenomenon such as acute chest syndrome, priapism, hepatopathy, and cerebrovascular stroke. Blood transfusion (BT) as therapy and prophylaxis in SCA, although was advocated as early as the 1940's, there are still debates regarding its benefits and risks. This is a review of the value of BT in patients with SCA with emphasis on the risks and benefits as well as guidelines towards safe BT.
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PMID:Principles of blood transfusion in sickle cell anemia. 1251 88

Priapism is a prolonged penile erection that is unrelated to sexual stimulation. Low-flow priapism has been associated with sickle cell disease and other hemoglobinopathies, neoplastic syndrome, anticoagulant therapy, psychotropic medication, and idiopathic causes. We report the successful treatment of idiopathic low-flow priapism using the Winter procedure. Initial treatment consisted of aspiration and intracavernous irrigation with iced saline and a vasoconstrictive agent, but in vain. We then performed the Winter procedure, in which fistulas between the corpora cavernosa and the glans penis were created. This resulted in the simultaneous detumescence of the penis, without complication. The erectile function of the penis was normal 1 year after the procedure. This case shows that idiopathic low-flow priapism can be successfully treated using the Winter procedure when conservative treatment fails.
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PMID:Management of low-flow priapism using the Winter procedure: a case report. 1275 4


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