Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In hereditary deafness a battery of audiological and medical investigations are needed to find out the aetiological factors. We tested the blood of children impaired hearing for hemoglobinopathies. Such anomalies might provide a clue to the aetiology. We found abnormal structures of hemoglobin in 5 children suffering from Fanconi's anemia. Four of these children had prenatal conductive hearing loss. The other children showed no abnormal hemoglobin.
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PMID:[Do hemoglobinopathies correlate with genetically-induced hearing disorders?]. 241 80

We describe an infant with severe combined immunodeficiency syndrome and an alpha-thalassemia trait who developed a renal Fanconi syndrome after his first stem cell transplantation. This syndrome consists of a generalized failure of proximal tubular reabsorption, which leads to a large number of metabolic disturbances. The etiology varies from inherited causes, including an idiopathic form, to acquired causes such as intoxications, immunological disorders and hemoglobinopathies. In this case report we discuss possible explanations of the Fanconi syndrome in our patient.
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PMID:An infant with severe combined immunodeficiency syndrome, an alpha-thalassemia trait and renal Fanconi syndrome. 1091 11