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)

The authors report on a 24-year old patient with Blackfan-Diamond syndrome who developed a Hodgkin's disease. This patient became transfusion-dependent at the age of 10, after an initial period of corticosensitivity, and after failure of androgens. He developed hemochromatosis despite from parenteral chelation therapy. He died of infectious complications 4 months after the diagnosis of Hodgkin's lymphoma. A review of the literature shows an increased incidence of malignancies in Blackfan-Diamond syndrome (three cases of leukemia), and in similar disease (thalassemia and sickle cell disease), but not in other patients with hemosiderosis (primitive hemochromatosis, end-stage renal failure under dialysis). Etiopathogenic hypotheses are discussed.
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PMID:[Blackfan-Diamond disease and malignancy: cause effect relationships?]. 133 66

Restriction endonuclease analysis was used to detect alpha-gene deletions and to determine the haplotypes in the DNA of the beta S-gene-cluster [Benin, Central African Republic (CAR), and Senegal] in 221 patients with sickle cell anemia (SS). The clinical expression of SS was modified by the beta S-gene-cluster polymorphisms and the alpha-gene status (alpha-thalassemia-2). The overall risk of soft tissue organ failure caused by the obliterative sickle vasculopathy (including stroke, renal failure, chronic lung disease with cor pulmonale, leg ulcers, and young adult death) was increased threefold in those with a CAR haplotype and was decreased in those with a Senegalese chromosome (p = 0.003). In the presence of a Senegalese haplotype, the patient's health is better, and with the CAR haplotype it is always worse. With the Benin, it is intermediate. Acute recurrent clinical events including hospitalized sickle cell crisis, bone infarction, and infection are decreased in frequency in those with a Senegalese haplotype. The risk of most acute events including acute chest syndrome is equivalent in those with Benin or CAR haplotypes. In the United States, alpha-thalassemia-2 is co-inherited randomly among the beta S-gene-cluster haplotypes. Acute events occurring during childhood are minimally effected by this co-inheritance. The risk of soft tissue organ failure is decreased. After the age of 20 years, painful episodes of the lumbar dorsal area are increased in patients who had alpha-thalassemia-2 in association with degenerative bone disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Beta S-gene-cluster haplotypes in sickle cell anemia: clinical implications. 170 Jun 39

Non-A, non-B hepatitis, recently renamed as hepatitis C virus (HCV), accounts for over 90% of hepatitis cases worldwide associated with blood transfusions. Application of a recombinant-based enzyme immunoassay for the detection of antibodies to HCV to a sample of 500 male Saudi blood donors and 260 healthy Saudi pregnant women indicated that HVC is endemic in the Saudi population. Anti-HCV was detected in 28 (5.6%) of the blood donors and 12 (4.6%) of the pregnant women, for an overall frequency of 5.3% in healthy Saudi adults who had never received blood transfusions. This rate is at least 5 times higher than that reported for the US and Western Europe. Also assessed was the HCV rate in subsamples of Saudis considered at risk of this infection. Here, anti-HCV was detected in 22 (78.6%) hemophiliacs, 26 (33.3%) patients with thalassemia and sickle cell disease, 17 (26.1%) hemodialysis patients with renal failure, and 35 (15.9%) individuals with a sexually transmitted disease. The prevalence of anti-HBc ranged from 28% in blood donors to 46% in hemophiliacs. The significantly higher prevalence of HCV in patients with sexually transmitted diseases than in blood donors suggests that this disease is transmitted through heterosexual contact as well as blood transfusions. Given the high baseline level of HCV infection in the Saudi population and the possibility of serious sequelae (e.g., chronic active hepatitis, cirrhosis, and hepatocellular carcinoma), routine anti-HCV screening of blood donations is urged.
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PMID:Hepatitis C virus antibodies in high-risk Saudi groups. 177 46

A new test for the laboratory diagnosis of spherocytosis, conventionally called 'Pink test', is presented. This test, semi-quantitatively or quantitatively, determines the hemolysis of small blood samples in a solution containing glycerol (135 mmol/l), NaCl (25 mmol/l), NaN3 (1.5 mmol/l), buffered to pH 6.66 with Bis-Tris (70 mmol/l) and HCl. 'Pink test', as well as 'acidified' glycerol lysis test, were positive in 100% of 42 patients suffering from hereditary spherocytosis, and optimally discriminated them from healthy subjects, showing a diagnostic sensitivity greater than 'standard' glycerol lysis test and osmotic fragility in hypotonic saline solutions of fresh or incubated blood. 'Pink test' was also positive in some cases of renal failure, immunohemolytic anemia, chronic hemoproliferative disorders, normal pregnant women, and negative in other microcytic anemias (beta-thalassemia, iron deficiency anemia). The results do not critically depend on pH of the solution (differently from those obtained with 'acidified' glycerol lysis test), and for this reason they show a good reproducibility.
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PMID:A new test for the laboratory diagnosis of spherocytosis. 643 93

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

Advanced renal failure occurred in nine adult sickle cell disease patients. There were six men and three women with a mean age of 38.6 years. Eight patients had homozygous SS disease, one had sickle cell thalassemia. Three patients had acute renal failure from which they partially recovered. Six developed endstage kidney disease requiring dialysis. Two of these received a kidney transplant, and there was one death in the immediate postoperative period. Angina pectoris, hyperkalemia, and severe anemia complicated chronic dialysis, suggesting that early transplantation should be considered for sickle cell anemia patients with renal failure.
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PMID:Advanced renal failure in patients with sickle cell anemia: clinical course and prognosis. 675 51

Red cell nucleotides, predominantly adenine nucleotides, were measured spectrophotometrically in normal individuals and in patients with iron deficiency, beta thalassaemia and renal failure following dialysis or transplantation. There was a significant correlation between the mean red cell haemoglobin (MCH) or the mean cell volume (MCV) and the nucleotide levels in red cells (P less than 0.001). Patients with beta thalassaemia did not have increased nucleotide levels compared to red cells having the same MCH or MCV. Patients with renal failure had significantly increased levels of nucleotides compared to normal individuals, and this level remained high after renal dialysis but returned to normal following renal transplantation.
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PMID:Red cell nucleotide levels in patients with thalassaemia, iron deficiency, and renal failure. 684 15

Evidence from structural studies of DNA suggest that the sickle cell mutation has arisen on at least three separate occasions in Africa and as a fourth independent mutation in the Eastern Province of Saudi Arabia or India. The pathophysiology of sickle cell disease is essentially similar in these different areas although the frequency and severity of complications may vary between areas. Generally, the chronic haemolysis and resulting anaemia is well tolerated, although serious morbidity and occasionally mortality may be associated with the aplastic crisis or cholelithiasis. Exacerbation of anaemia below steady state levels occurs with chronic glomerular damage and renal failure, especially in older patients. Most of the morbidity of the disease arises from bone marrow necrosis in the painful crisis or from vaso-occlusive manifestations. Changes in the splenic circulation result in life-threatening episodes of acute splenic sequestration, the chronic morbidity of hypersplenism, and splenic dysfunction renders children prone to pneumococcal septicaemia. Chronic organ damage contributes to chronic leg ulceration in adolescence and progressive renal, pulmonary, and occasionally cardiovascular impairment in later life. The clinical spectrum of homozygous sickle cell disease varies widely between patients. Factors contributing to this variability include alpha-thalassaemia, persistence of high HbF levels, haematology, social circumstances, and geographical and climatic variation. Many of the causes of mortality may be prevented or more effectively treated, leading to increased survival and an increased quality of life in affected subjects.
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PMID:The clinical features of sickle cell disease. 835 19

The study group screened for anti-HCV comprised 789 subjects of hepatitis, renal failure, thalassaemia and healthy voluntary blood donors coming from Central India during July 1992 to November 1995. The prevalence of HCV was low (4.85%) among 103 patients of acute viral hepatitis (AVH) while it was higher (25.64%) among 117 patients of chronic liver disease (CLD) with the highest rate of 31.57 percent in 57 patients of cirrhosis. The anti-HCV positivity among 101 patients with hepatic failure was around 10 percent. High risk groups such as chronic renal failure (CRF) patients mainly on haemodialysis and thalassaemics receiving multiple blood transfusions showed the prevalence of anti-HCV in 41.9 and 25.45 percent respectively. Only 1.78 percent of the 280 voluntary blood donors showed positivity for anti-HCV. Comparison of the data on HCV in the present study with data from other parts of India showed a wide variation in the different centers. The higher prevalence of HCV among CRF patients and thalassaemics indicates the need for screening of the blood units for anti-HCV before transfusion to these high risk patients.
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PMID:Prevalence of anti-HCV antibodies in central India. 884 Jun 56

To determine if hemoglobin E trait influences the course of acute malaria, adults hospitalized for the treatment of symptomatic infection with Plasmodium falciparum were studied retrospectively. Forty-two patients with hemoglobin E trait were compared with 175 reference subjects who did not have hemoglobin E, beta-thalassemia, glucose-6-phosphate dehydrogenase deficiency, or alpha-thalassemia. One patient (2.4%) with hemoglobin E trait had a severe complication of malaria by World Health Organization criteria (cerebral malaria), while 32 subjects in the reference group (18.3%) had one or more severe complications: cerebral malaria (n=18), hyperparasitemia (n=16), renal failure (n=10), and severe anemia (n=1) (P=.044 after adjustment for ethnic categories). The estimated odds of severe complications in the reference subjects were 6.9 times the odds in patients with hemoglobin E trait (95% confidence interval, 1.2-146. 4). These results suggest that hemoglobin E trait may ameliorate the course of acute falciparum malaria.
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PMID:Influence of hemoglobin E trait on the severity of Falciparum malaria. 984 56


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