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)

We report an unusual north Indian patient with Hemoglobin Evanston [alpha 14 (A12) Try --> Arg] who had acquired cyclic thrombocytopenia (10-1230 x 10(9)/l periodic oscillation of four week duration) which recovered without any specific therapy. She later developed Takayasu's disease and underwent three corrective stents. She is presently in clinical remission and is on regular follow up. To the best of our knowledge our patient is the first report of Hb Evanston from the indigenous population of India and highlights the need to look for point mutations in the alpha globin gene, which may interact with thalassemia or other hemoglobinopathies, in atypical cases. The association of these three disorders in our patient is possibly unrelated though an immune basis for the cyclic thrombocytopenia and Takayasu's disease is likely as seen in this report.
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PMID:Investigation of persistent hypochromic microcytosis unmasks hemoglobin Evanston [alpha 14 (A12) Try--> Arg] in a patient of cyclic thrombocytopenia preceding Takayasu's disease. 1627 37