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)

Schilling tests were performed in ten children and 5--12 years suffering from homozygous beta-thalassemia. 57Co labelled vitamin B12 values excreted in the urine have been found much lower than normal and remained low when the same procedure was repeated with the addition of intrinsic factor. The possible factors responsible for this malabsorption of vitamin B12 seemed to be liver damage and folic acid deficiency.
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PMID:Malabsorption of vitamin B12 in homozygous beta-thalassemia. 98 Jul 98

Hemolytic anemias consist of corpuscular, immun-hemolytic and toxic hemolytic anemias. Within the group of corpuscular hemolytic anemias, except for the paroxysmal nocturnal hemoglobinuria (PNH), all symptoms are caused by underlying heredetiary disorders within the red blood cell membran (hereditary spherocytosis), deficiencies of red cell enzymes (G6PDH- and pyrovatkinase deficiency) or disorders in the hemoglobin molecule (thalassaemia and sickle cell disease). Immune-hemolytic anemias are acquired hemolytic anemias and hemolysis is caused by auto- or allo-antibodies which are directed against red blood cell antigens. They are classified as warm, cold, mixed type or drug-induced hemolytic anemia. Therapy consists of glucocorticoids and other immunsuppressive drugs. Pernicious anemia is the most important vitamin B12 deficiency disorder. Diagnosis relies on cobalamin deficiency and antibodies to intrinsic factor. The management should focus on a possibly life-long replacement treatment with cobalamin.
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PMID:[Hemolytic anemias and vitamin B12 deficieny]. 2630 21

Pernicious anemia (PA), the commonest cause of cobalamin deficiency (CD) in the world, is an autoimmune disease of multifactorial origin and is characterized by chronic atrophic gastritis (CAG) and defective absorption of cobalamin from the terminal ileum due to interference by the intrinsic factor (IF) antibodies. PA-related CD is a lengthy process, which if untreated, can lead to irreversible hematological and neurological sequelae. Although safe and effective therapy is available and the management of PA is straightforward, the diagnosis of PA can be extremely difficult to obtain due to myriad and diverse clinical presentations, frequently coexisting diseases, and limitations of currently available diagnostic tests. Diagnostic dilemmas may occur when PA patients present with normal or spuriously high serum cobalamin levels, dysplastic features of ring sideroblasts in the bone marrow (BM), hemolysis, and concomitant diseases such as iron deficiency or thalassemia. Herein, the author discusses an overview of diagnostic difficulties, with regards to morphological mimics, coexisting diseases, limitations of currently available tests, and how to diagnose PA in the era of imperfect laboratory tests.
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PMID:Diagnostic difficulties in pernicious anemia. 3205 65