Association of hemolytic anemia and early-onset pulmonary emphysema in three siblings.
Three of four siblings born to nonconsanguineous parents of Italian origin were affected with severe congenital hemolytic anemia of unknown cause, and early-onset pulmonary emphysema. Two of the three affected siblings died of septic shock after splenectomy, at the ages of 7 and 3 1/2 years, respectively. The remaining affected sibling was shown to have cutis laxa and severe pulmonary emphysema at 15 years of age. Assay of serum components indicated that alpha 1-antitrypsin and alpha 2-macroglobulin levels were normal or slightly elevated. However, there was markedly elevated activity of an elastase-like serum enzyme. The relation of the hemolytic anemia to the pulmonary findings in this family is not clear; pedigree analysis suggests a recessively inherited defect.
D000293:Adolescent; D000745:Anemia, Hemolytic, Congenital / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003483:Cutis Laxa / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D007558:Italy / Q000208:ethnology; D008297:Male; D010375:Pedigree; D011656:Pulmonary Emphysema / Q000150:complications / Q000235:genetics*; D012129:Respiratory Function Tests; D012772:Shock, Septic / Q000209:etiology; D013156:Splenectomy / Q000009:adverse effects; D014481:United States