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JOURNAL ARTICLE

Early diagnosis of co-existent ß-thalassemia and alkaptonuria

Moushumi Lodh, Joshi A Kerketta
Indian Journal of Human Genetics 2013, 19 (2): 259-61
24019631
Since the aggregate incidence of inborn errors of metabolism is relatively high, a high degree of suspicion is essential to correctly diagnose an inborn error of amino acid metabolism. We report a case of alkaptonuria an autosomal recessive disorder that occurs due to deficiency of homogentisic acid oxidasein a β-thalassemia infant presenting with reddish discoloration of nappies and clothes, breath holding spells, and microcytic hypochromic anemia. Born to consanguineous cousins, to our knowledge, the combination of β-thalassemia and alkaptonuria, which we have described in this baby, has not been reported earlier.

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