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)

To determine the prevalence and characteristics of priapism associated with sickle cell hemoglobinopathic conditions we interviewed and examined 52 men with sickle cell anemia, 10 with sickle C disease, 3 with sickle B(+)-thalassemia and 19 with sickle cell trait. Of the men 20 with sickle cell anemia (38%) and 1 with sickle B(+)-thalassemia (33%) reported past priapism attacks. Average patient age at onset in the sickle cell anemia patients was 19 years (range 8 to 30 years). Four men had had only 1 attack. The average number of attacks per year in the remaining patients ranged from 1 to 52. Of the patients who reported multiple attacks the average duration of a typical episode and the duration of the longest self-limiting episode was 1.6 and 7.0 hours, respectively. Six patients had experienced 1 attack that persisted for longer than 24 hours. There were no significant differences between the clinical and hematological parameters of the sickle cell anemia patients who did and did not experience priapism or of the priapism patients who had and had not experienced episodes lasting greater than 24 hours. Six patients had been hospitalized for priapism and 4 were treated with a shunting procedure. Of the latter patients 2 were impotent but there was no significant alteration in the sexual function of the other study participants.
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PMID:Priapism associated with the sickle cell hemoglobinopathies: prevalence, natural history and sequelae. 198 2

A questionnaire survey was conducted of patients with homozygous sickle cell anemia (Hb SS) and sickle cell beta(0)-thalassemia (Hb S-beta(0)) between 5 and 20 years of age to determine the prevalence and characteristics (number of episodes, timing, duration, cause, or precipitating event) of priapism. Ninety-eight male patients or their parents were surveyed by the same male investigator using a structured verbal interview, which was modified according to the age of the patient. Ninety-four patients had Hb SS and four Hb S-beta(0) thalassemia. Eleven (11%) patients were known to have experienced priapism previously. In response to the questionnaire, 16 of the remaining 87 (18%) patients reported having had priapism on one or more occasions. The actuarial probability of experiencing priapism by 20 years of age was 89% (+/- 9%). The mean age at the initial episode was 12 years, the mean number of episodes per patient was 15.7 (median, 1; range, 1-100), and the mean duration of an episode was 125 minutes. Episodes typically occurred around 4:00 am, and 75% of the patients surveyed had at least one episode starting during sleep or upon awakening from sleep. The prevalence of priapism in children and adolescents with SCA is much higher than previously described. Since early intervention and treatment may prevent irreversible penile fibrosis and impotence, patients and parents should be educated about this complication in advance of its occurrence.
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PMID:Prevalence of priapism in children and adolescents with sickle cell anemia. 1059 64

Patients with beta-globin disorders show amelioration of clinical condition by sustained synthesis of fetal haemoglobin in adult life. We report data on a patient with beta(o)-thalassaemia genotype and thalassaemia intermedia clinical phenotype. He received therapy with hydroxyurea (20 mg/kg/d) because of the presence of extramedullary masses causing paraparesis, neurogenic bladder and impotence. During therapy, the patient showed an improved clinical picture and a significant increase in total Hb (from 71.8 to 103.2 g/L) and a gamma/alpha globin synthetic ratio (from 0.39 to 0.68). The myelosuppressive effect of hydroxyurea was revealed by a decrease in CFU-GEMM, BFU-E, and CFU-GM. Therefore hydroxyurea can be effective in the treatment of patients with extramedullary haematopoiesis (EMH) who are not transfusion-dependent and cannot be treated with radiotherapy.
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PMID:Hydroxyurea therapy in paraparesis and cauda equina syndrome due to extramedullary haematopoiesis in thalassaemia: improvement of clinical and haematological parameters. 1090 97

ABSTRACT Genetically modified rice that incorporates twofold to threefold increased amounts of iron is being developed. The product could provide improved nutrition to iron-deficient persons but may be a health hazard to large numbers of humans who are prone to iron overload. Clinical disorders such as African siderosis, beta-thalassemia, hemochromatosis, and alcoholic siderosis are of special concern. Conditions associated with iron loading include fatigue and depression; arthritis; endocrine disorders such as stunted growth, impotence, and diabetes; gastrointestinal maladies; infections and malignancies; several neurological diseases; and, not least, cardiovascular system decay. Therefore, it would be prudent to label sacks of iron-enriched rice to indicate that "this product may be dangerous to persons with iron loading conditions".
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PMID:Iron-enriched rice: the case for labeling. 1923 76