Abstract
Aplastic anemia, defined as pancytopenia due to bone marrow failure, may be constitutional or acquired. A detailed review with extensive references of this entire topic can be found in the recent textbook edited by Nathan and Oski.1 The classification of the aplastic anemias is shown in Table 3.1. Although the majority of cases are acquired, this presentation will focus on the constitutional disorders, in an effort to increase awareness of these conditions, and to emphasize that they are undoubtedly more common than is currently recognized. Among the genetic bone marrow failure syndromes, Fanconi’s anemia (FA) is the most common, and will be discussed in the most detail.
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References
Alter BP. The bone marrow failure syndromes. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood. Philadelphia, Saunders, 1987: pp. 159–241.
Auerbach AD, Sagi M, Adler B. Fanconi anemia: Prenatal diagnosis in 30 fetuses at risk. Pediatrics 1985; 76:794–800.
Auerbach AD, Wolman SR. Susceptibility of Fanconi’s anaemia fibroblasts to chromosome damage by carcinogens. Nature (London) 1976; 261:494–496.
Li FP, Alter BP, Nathan DG. The mortality of acquired aplastic anemia in children. Blood 1972; 40:153–162.
Camitta BM, Storb R, Thomas ED. Aplastic anemia. (Second of two parts). Pathogenesis, diagnosis, treatment, and prognosis. N Engl J Med 1982; 306:712–718.
Estren S, Dameshek W. Familial hypoplastic anemia of childhood. Report of eight cases in two families with beneficial effect of splenectomy in one case. Am J Dis Child 1947; 73:671–687.
Li FP, Potter NU. Classical Fanconi anemia in a family with hypoplastic anemia. J Pediatr 1978; 92:943–944.
Cividalli G, Yarkoni S, Dar H, Kohn G. Can infantile hereditary agranulocytosis be diagnosed prenatally? Pren Diag 1983; 3:157–159.
Glader BE, Backer K. Elevated red cell adenosine deaminase activity: A marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. Br J Haematol 1988; 68:165–168.
Nathan DG, Clarke BJ, Hillman DG, Alter BP, Housman DE. Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia. J Clin Invest 1978; 61:489–498.
Lipton JM, Kudisch M, Gross R, Nathan DG. Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia. Blood 1986; 67:962–968.
Gonzalez CH, Durkin-Stamm MV, Geimer NF, Shahidi NT, Schilling RF, Rubira F, Optiz JM. The WT syndrome-A “new” autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia. Birth Defects: Original Article Series 1977; XIII, 3B:31–38.
Arias S, Penchaszadeh VB, Pinto-Cisternas J, Larrauri S. The I VIC syndrome: A new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. Am J Med Genet 1980; 6:25–59.
Aufderheide AC. Familial cytopenia and vascular disease: a newly recognized autosomal dominant condition. Birth Defects: Original Article Series 1972; VIII, 3:63–68.
Abels D, Reed WB. Fanconi-like syndrome. Immunologic deficiency, pancytopenia, and cutaneous malignancies. Arch Dermatol 1973; 107:419–423.
Li FP, Potter NU, Buchanan GR, Vawter G, Whang-Peng J, Rosen RB. A family with acute leukemia, hypoplastic anemia and cerebellar ataxia. Association with bone marrow C-monosomy. Am J Med 1978; 65:933–940.
Li FP, Hecht F, Kaiser-McCaw B, Baranko PV, Potter NU. Ataxia-pancyto-penia: Syndrome of cerebellar ataxia, hypoplastic anemia, monosmy 7, and acute myelogenous leukemia. Cancer Genet Cytogenet 1981; 4:189–196.
Li FP, Marchetto DJ, Vawter GR. Acute leukemia and preleukemia in eight males in a family: An X-linked disorder? Am J Hematol 1979; 6:61–69.
Linsk JA, Khoory MS, Meyers KR. Myeloid, erythroid, and immune system defects in a family. A new stem-cell disorder? Ann Intern Med 1975; 82:659–662.
Purtilo DT, Sakamoto K, Barnabei V, Seeley J, Bechtold T, Rogers G, Yetz J, Harada S. Epstein-barr virus-induced diseases in boys with the x-linked lym-phoproliferative syndrome (XLP). Update on studies of the registry. Am J Med 1982; 73:49–56.
Chitambar CR, Robinson WA, Glode LM. Familial leukemia and aplastic anemia associated with monosomy 7. Am J Med 1983; 75:756–762.
Sleijfer DT, Mulder NH, Niewig HO, Anders GJPA, Gouw W-L. Acquired pancytopenia in relatives of patients with aplastic anaemia. Acta Med Scand 1980; 207:397–402.
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Alter, B.P. (1990). Constitutional Aplastic Anemia. In: Shahidi, N.T. (eds) Aplastic Anemia and Other Bone Marrow Failure Syndromes. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-3254-4_3
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DOI: https://doi.org/10.1007/978-1-4612-3254-4_3
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