sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.

Signs and symptoms

• Hypochromic microcytic anemia
• Sideroblastic anemia
• Brittle hair
• Global developmental delay
• Decreased total B cell count
• Aminoaciduria
• Lactic acidosis
• Hypotonia
• Generalized hypotonia
• Rod-cone dystrophy

Also known as: SIFD