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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).

Anderson CE, Finklestein JZ, Nussbaum E, et al: Association of hemolytic anemia and early onset pulmonary emphysema in three siblings. J Pediatr105:247, 1984.

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