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Arch Dis Child. 1982 January; 57(1): 68–70.
PMCID: PMC2863263

Alpha-1-antitrypsin deficiency presenting as a bleeding diathesis in the newborn.


Three cases of alpha-1-antitrypsin deficiency are reported. Each infant presented in the newborn period with a haemorrhagic tendency which responded to vitamin K. Two of them subsequently developed cirrhosis, and Case 2 is one of the few reported cases in infantile cirrhosis associated with the heterozygous protease inhibitor (Pi) SZ phenotype. On the basis of these 3 patients we feel that the exclusion of alpha-1-antitrypsin deficiency by Pi phenotyping should be considered in any baby presenting with a bleeding diathesis, especially in view of the genetic implications of the homozygous Pi ZZ phenotype.

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Selected References

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  • Odièvre M, Martin JP, Hadchouel M, Alagille D. Alpha1-antitrypsin deficiency and liver disease in children: phenotypes, manifestations, and prognosis. Pediatrics. 1976 Feb;57(2):226–231. [PubMed]
  • Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med. 1976 Jun 10;294(24):1316–1321. [PubMed]
  • Aagenaes O, Matlary A, Elgjo K, Munthe E, Fagerhol M. Neonatal cholestasis in alpha-1-antitrypsin deficient children. Clinical, genetic, histological and immunohistochemical findings. Acta Paediatr Scand. 1972 Nov;61(6):632–642. [PubMed]
  • Cottrall K, Cook PJ, Mowat AP. Neonatal hepatitis syndrome and alpha-1-antitrypsin deficiency: an epidemiological study in south-east England. Postgrad Med J. 1974 Jun;50(584):376–380. [PMC free article] [PubMed]
  • Larsson C. Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z. Acta Med Scand. 1978;204(5):345–351. [PubMed]
  • Rosenthal P, Liebman WM, Thaler MM. alpha 1-antitrypsin deficiency and severe infantile liver disease. Am J Dis Child. 1979 Nov;133(11):1195–1196. [PubMed]

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