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 aim of the present work is to apply a non-invasive test, using thumb fingerprint residue analysis, for detection of beta-thalassemia (beta-Thal). The relative percentages of free amino acids (AA) in the latent fingerprint of beta-Thal patients and healthy subjects were compared. The sample included 24 beta-Thal patient and 24 healthy subjects, aged 5-10 years old. Twenty-three AA plus ammonia were analyzed by a sensitive high-performance liquid chromatographic method with fluorescence detection. The profile of AA was calculated based on the percentage of relative amount of each AA to serine (Ser) as it found to be the predominant peak. The statistical and chromatographic profiles of beta-Thal patients were characterized by significant decrease of ornithine, lysine, and zero tyrosine, with significant increase of ammonia, and proline. Other amino acids that exist in low ratios were estimated statistically for significance changes. The relative percentages of each AA of healthy subjects were approximately constant. For this reason, these mentioned AA were assigned as major fingerprint markers of beta-Thal.
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PMID:The profile of free amino acids in latent fingerprint of healthy and beta-thalassemic volunteers. 2042 46

Pulmonary hypertension (PH), a serious disorder with a high morbidity and mortality rate, is known to occur in a number of unrelated systemic diseases. Several hematological disorders such as sickle cell disease, thalassemia and myeloproliferative diseases develop PH which worsens the prognosis. Associated oxidant injury and vascular inflammation cause endothelial damage and dysfunction. Pulmonary vascular endothelial damage/dysfunction is an early event in PH resulting in the loss of vascular reactivity, activation of proliferative and antiapoptotic pathways leading to vascular remodeling, elevated pulmonary artery pressure, right ventricular hypertrophy and premature death. Hemolysis observed in hematological disorders leads to free hemoglobin which rapidly scavenges nitric oxide (NO), limiting its bioavailability, and leading to endothelial dysfunction. In addition, hemolysis releases arginase into the circulation which converts L-arginine to ornithine, thus bypassing NO production. Furthermore, treatments for hematological disorders such as immunosuppressive therapy, splenectomy, bone marrow transplantation, and radiation have been shown to contribute to the development of PH. Recent studies have shown deregulated iron homeostasis in patients with cardiopulmonary diseases including pulmonary arterial hypertension (PAH). Several studies have reported low iron levels in patients with idiopathic PAH, and iron deficiency is an important risk factor. This article reviews PH associated with hematological disorders and its mechanism; and iron homeostasis and its relevance to PH.
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PMID:Hematological disorders and pulmonary hypertension. 2807 Feb 38