Early diagnosis of co-existent ß-thalassemia and alkaptonuria

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.

Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Moushumi LodhJoshi A Kerketta Source Type: research