DADA2 presenting as nonimmune hemolytic anemia with recurrent macrophage
activation syndrome
Abstract
Hemolytic anemia is a common clinical problem with diverse etiology.
10-year-old boy presented with severe pallor. He had hemolytic facies,
hepatosplenomegaly & deformity of small joints. Investigations revealed
DAT-ve anemia, reticulocytosis and low haptoglobin. BM showed erythroid
hyperplasia. Past history revealed recurrent fever, rash,
hepatosplenomegaly, lymphadenopathy and poly arthritis diagnosed as
systemic-JIA and MAS necessitating admission twice. Hence, a diagnosis
of hemolytic anemia with auto inflammatory disease was considered. Whole
Exome revealed compound heterozygous mutation in CECR1 gene. DADA2 is a
syndrome with varied manifestations including vasculitis, hematological
and immunological abnormalities. Clue in our patient was presence of
periodic fever.