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 therapeutic role of xanthinol nicotinate, with its potent action on the peripheral circulation, in promoting healing of leg ulcers when added to conservative measures of ulcer treatment in adult beta-thalassaemia major and sickle cell thalassaemia, was evaluated in a double-blind crossover trial in 16 patients suffering from multiple leg ulcers. Conservative measures of ulcer treatment were leg raising in horizontal position for 14 hours, bed-rest, local antiseptic dressings and antibiotics. Xanthinol nicotinate or placebo was administered in a daily dose of 8 tablets (2400 mg) for 10 weeks. Comparison of the treatment results of conservative measures plus xanthinol nicotinate and those of conservative measures plus placebo revealed a statistically significant higher rate of complete ulcer healing during xanthinol nicotinate therapy (p less than 0.01). Apart from a low incidence of generalized itching and flushing at the start of the trial, xanthinol nicotinate was well tolerated in the prescribed dose.
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PMID:Xanthinol nicotinate in the management of leg ulcers associated with haemoglobinopathies. 54 May 21

A case of recurrent leg ulceration associated with alpha-thalassaemia (haemoglobin H disease) is reported. It is suggested that leg ulcers occurring in the thalassaemic syndromes may be due to structural changes in the affected red cells which result in increased cell rigidity, decreased deformability and consequent diminished blood flow in capillary beds that are subjected to venous stasis.
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PMID:Leg ulcers in alpha-thalassaemia (haemoglobin H disease). 62 79

Four patients had thalassemia and leg ulcers. In three patients the hematologic diagnosis of thalassemia had not been previously made; the presenting symptom was the leg ulcer. The diagnosis of thalassemia should be considered in patients who have unexplained chronic leg ulcers; the incidence of this complication of thalassemia may be higher than previously reported.
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PMID:Ulcers of the leg in thalassemia. 93 95

A family is presented in which the proposita, affected with thalassaemia major, developed a chronic leg ulcer at the age of 14 years. Her eldest brother, not affected with thalassaemia, had a transient leg ulcer at the age of 18 years and a second brother, affected with thalassaemia minor, developed leg ulcers when aged 15 years. Al three siblings were glucose-6-phosphate dehydrogenase deficient.
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PMID:Leg ulcers in a family with both beta thalassaemia and glucose-6-phosphate dehydrogenase deficiency. 95 59

Eight patients with beta thalassaemia major suffering from leg ulcers, were treated over an 8-week period with 3 g ascorbic acid daily in a controlled double-blind crossover study. The ulcers of all the patients showed a high rate of either complete or partial healing.
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PMID:High dose ascorbic acid in the management of thalassaemia leg ulcers--a pilot study. 109 27

The proband of each of three families of Northern European or Italian extraction had an unusual form of heterozygous beta-thalassaemia, confirmed by haematological, genetic and peripheral blood globin synthesis studies. The unusual severity of this disorder was indicated by chronic haemolysis leading to splenectomy and cholecystectomy, by numerous nucleated red cells and reticulocytes in the peripheral blood, and by leg ulcers in one family. The diversity of clinical expression in many family members with heterozygous beta-thalassaemia was striking. Bone marrow examination in the probands showed numerous large inclusion bodies of the type usually found only in thalassaemia major. In addition, there was unbalanced globin synthesis in the bone marrow, in contrast to the more balanced synthesis found in asymptomatic beta-thalassaemia trait. The amount of newly synthesized alpha-chain found in the free alpha-chain pool was markedly elevated. The unbalanced globin synthesis and alpha-chain inclusions in the bone marrow cells suggest that the severity of the disorder in these patients may be due to the inability of their red cell precursors to fully compensate for the thalassaemic defect or to remove excess alpha-chains. The diversity of clinical expression suggests the influence of undefined acquired or genetic factors on the expression of beta-thalassaemia in these families.
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PMID:Heterozygous beta thalassaemia of unusual severity. 125 27

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

Identification of the beta s-gene-cluster haplotype and alpha-gene status provides a useful tool for the detection of the high-risk SS patient. The DNA polymorphisms of the beta s-gene-cluster modulate the clinical course in sickle cell anemia, especially as it involves the risk of end stage organ failure of the kidney, lung, brain, eyes, bones, and leg ulcers. This is schematically represented in Figure 4. The disease severity is modified according to the beta s-gene-cluster haplotypes and the co-inheritance of alpha-thalassemia-2. In both Africa and America, the CAR beta s haplotype increases the risk of developing an irreversible complication at an early age. The rate of progression of organ damage is regulated by the beta s-cluster haplotype from birth. The preservation of G gamma Hb F is haplotype dependent and correlates with the overall clinical course of the patient. Further modulation of the clinical course with the co-inheritance of alpha-thalassemia-2 tends to decrease the risk of soft-tissue organ failure and increase the risk of osteonecrosis. Epidemiologic studies in Africa together with clinical correlative analysis in Southern California show that SS patients with a Ben haplotype have a less severe illness than those with a CAR and a more severe illness than those with a Sen. A single individual can be expected to fit into the overall pattern. Some sickle related illness will eventually occur in all. The variable clinical manifestations in sickle cell anemia are modified according to the interaction of alpha gene deletions and the beta s-gene-cluster haplotype, are distinct for each organ, and markedly influence the age of onset of end stage major organ failure. In the presence of a Senegal haplotype, the patient's health is better; with the CAR haplotype, it is always worse; severity is intermediate in the Benin haplotype.
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PMID:Beta s-gene-cluster haplotypes in sickle cell anemia. Clinical and hematologic features. 171 10

The kidney is involved in virtually all individuals who inherit the sickle cell form of hemoglobin. Though asymptomatic and relatively common, proteinuria in patients with sickle cell anemia (SS) over 40 years old is associated with reduced creatinine clearance. The subclinical increase in urinary albumin is termed microalbuminuria and is a marker of preclinical glomerular damage. The aim of the present study was to determine the presence of microalbuminuria measured by radioimmunoassay in patients with sickle cell disease. The study included 41 patients with SS, 11 patients with hemoglobin SC disease, 4 subjects with S beta-thalassemia and 10 normal controls. All subjects were teenagers or adults. Sixteen SS patients (40%) and 1 SC (9%) and 1 S beta (25%) patient presented mean urinary albumin excretion (UAE) above normal values (30 mg/l. No correlation was observed between UAE and age, creatinine clearance, hemoglobin level or %HbF. These parameters, as well as the presence of leg ulcers, were not significantly different between SS patients with and without UAE above 30 mg/dl. The high prevalence of microalbuminuria in patients with sickle cell anemia indicates that glomerular damage is common. The connection between microalbuminuria and clinical nephropathy has been demonstrated in diabetes and may indicate a sign of early disease rather than a marker for susceptibility. Thus, microalbuminuria may be an early indicator of glomerular damage for patients with sickle cell disease.
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PMID:Microalbuminuria in sickle cell disease. 213 17

During the entry examination, leg ulcers were present in 2.5% of 2,075 patients 10 years of age and older with sickle cell disease who entered into the Cooperative Study of Sickle Cell Disease (CSSCD) between 1979 and 1986. Prevalence rates were highest among patients with sickle cell anemia and sickle cell anemia with thalassemia genotypes. Among sickle cell anemia patients free of ulcers at entry, the overall incidence was 5.73 per 100 person years in those having associated alpha-thalassemia and 9.97 for those without. Among sickle cell anemia patients with two alpha genes, the estimated incidence of leg ulcers is 2.38 per 100 person years and 6.12 per 100 person years among sickle cell anemia patients with three alpha genes (P less than .05). In both groups, the incidence was highest among those patients over 20 years of age and considerably higher among males than females (P less than .001). Leg ulcers were nonexistent in patients with sickle beta plus thalassemia and sickle hemoglobin C disease. Low steady-state hemoglobin is associated with a higher incidence of ulcer formation (P less than .0001) in sickle cell anemia patients. The protective effect of hemoglobin F is apparent at all levels of total hemoglobin among sickle cell anemia patients and those with associated alpha-thalassemia.
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PMID:Leg ulcers in patients with sickle cell disease. 235 May 85


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