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, respect...

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Veröffentlicht in:The Journal of pediatrics 1984-08, Vol.105 (2), p.247-251
Hauptverfasser: Anderson, Carol E., Finklestein, Jerry Z., Nussbaum, Eliezer, Larson, Eunice J., Halpern, Roy, Uitto, Jouni, Tanaka, Kouichi R.
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Sprache:eng
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Zusammenfassung: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 α 1-antitrypsin and α 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.
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(84)80121-3