RESUMO
Hemoglobinopathies are one of the major public healthproblems that cause significant morbidity and mortality in thepopulation. A plethora of variant haemoglobins have beendescribed in the multi-ethnic Indian population. Detection ofasymptomatic carriers by reliable laboratory methods is thecornerstone of prevention of this serious health problem.Appropriate laboratory tests are required for diagnosis andconfirmation of these disorders. The identification of Hbvariants by conventional techniques is often presumptive.HPLC offers the distinct advantage over classic Hbelectrophoresis as it can more accurately identify andquantitate abnormal Hbs. Hb J Meerut is an infrequentlyfound alpha globin variant that has been reported invarious populations around the world. They are clinicallysilent and discovered accidentally. No case of Hb J alphamutation with Gauchers disease has been reported earlier sofar. Here we are reporting a rare variant of Hb Jalpha mutation in association with Gaucher’s disease that wasdetected accidentally in a 5 yr male child by HPLC and USGguided splenic aspiration.
RESUMO
A 6-year-old child presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs; and limping since 3 years. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets. He was treated with parenteral vitamin D3 and calcium supplements orally. Nutritional rickets has been reported in children with various types of ichthyosis like lamellar and X-linked types. We report this case of epidermolytic hyperkeratosis with rickets for its rarity.