Clinical profile of XXXX .

@entity1 @entity1087 @entity417 @entity7276 @entity2100 @entity381 @entity74 @entity14451
AIMS OF THE STUDY: @entity7276 ( @entity7276 ) is a @entity14451 manifesting as @entity417 , recurrent @entity1087 , @entity381 with marked heterogeneity in clinical presentation. The objective was to study the clinical spectrum of the disorder in India. METHODOLOGY: We studied 50 @entity7276 @entity1 and followed them for up to six years (Age range 2-47 years). RESULTS: The presenting features were @entity1087 35 out of 50, @entity417 30 out of 50 (requiring blood transfusion in 25). @entity381 was found in all @entity1 . @entity2100 was found in all @entity1 whereas spherocytes were found in only 19 out of 42 @entity1 . Reduced red cell survival was noted in 9/12 @entity1 studied with 51Cr labeled RBCs. There was a definite improvement in the hemoglobin values in those who underwent splenectomy. Thirteen cases had similarly affected family member/s. Fifteen of the cases had family history consistent with @entity74 ( @entity74 ) inheritance (eight families) while in six cases (5 families), inheritance was likely to be autosomal recessive (AR). There was intrafamilial variability in the age of presentation in the @entity74 families. CONCLUSIONS: Our results suggest that both @entity74 and recessive patterns of @entity7276 are seen in India and the clinical profile of the Indian @entity7276 @entity1 is similar to that described in other populations. @entity7276 presenting in childhood is also not uncommon. However, the predominant underlying protein defect in Indian @entity1 needs to be characterized.
