Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa

Very rare syndrome characterized by hemolytic anemia of unknown origin associated with early-onset emphysema and cutis laxa. Poor prognosis.

Cutis Laxa, Emphysema, and Hemolytic Anemia; Emphysema Hemolytic Anemia Syndrome.

Extremely rare (three cases described in consanguineous family); autosomal recessive.

Features include severe congenital hemolytic anemia, early-onset pulmonary emphysema, diffuse pulmonary giant cell infiltration, hemorrhagic adrenal necrosis, cutis laxa. Two of the three cases described died of septic shock before 7 years of age.

Evaluate severity of anemia (clinical, full blood count), and respiratory function (clinical, chest radiographs, CT, pulmonary function test, arterial blood gas analysis).