Advertisement
Research Article| Volume 19, ISSUE 1, P113-134, March 1999

Download started.

Ok

Bone Marrow Failure Syndromes

  • Blanche P. Alter
    Correspondence
    Address reprint requests to: Blanche P. Alter, MD, Division of Pediatric Hematology/Oncology, Children’s Hospital C3.270, University of Texas Medical Branch, 301 University Blvd, Galveston TX 77555-0361.
    Affiliations
    From the Department of Pediatrics, Division of Pediatric Hematology/Oncology, University of Texas Medical Branch, Galveston, Texas
    Search for articles by this author
DOI:https://doi.org/10.1016/S0272-2712(18)30131-8
Bone Marrow Failure Syndromes
Previous ArticleHemolytic Anemia in Children
Next ArticleThe Histiocytoses
      This paper is only available as a PDF. To read, Please Download here.
      Diagnosis of the inherited bone marrow failure syndromes depends on a combination of clinical suspicion and laboratory specificity. The major pancytopenias include Fanconi’s anemia, dyskeratosis congenita, Schwachman-Diamond syndrome, cartilage-hair hypoplasia, Pearson’s syndrome, reticular dysgenesis, amegakaryocytic thrombocytopenia, and familial aplastic anemias. The single cytopenias include Diamond-Blackfan anemia, Kostmann’s syndrome, and thrombocytopenia with absent radii. This chapter discusses the laboratory analyses which may be useful for these diagnoses.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.

      Content published before 2002 is available via pay-per-view purchase only.

      Subscribe:

      Subscribe to Clinics in Laboratory Medicine
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Register: Create an account
      Institutional Access: Sign in to ScienceDirect

      References

        • Abkowitz J.L.
        • Broudy V.C.
        • Bennett L.G.
        • et al.
        Absence of abnormalities of c-kit or its ligand in two patients with Diamond-Blackfan anemia.
        Blood. 1992; 79: 25
        • Abkowitz J.L.
        • Hume H.
        • Yancik S.A.
        • et al.
        Stem cell factor serum levels may not be clinically relevant.
        Blood. 1996; 87: 4017
        • Alter B.P.
        Fetal erythropoiesis in stress hematopoiesis.
        Exp Hematol. 1979; 7: 200
        • Alter B.P.
        Arm anomalies and bone marrow failure may go hand in hand.
        Am J Hand Surg. 1991; 17: 566
        • Alter B.P.
        Fanconi’s anemia and malignancies.
        Am J Hematol. 1996; 53: 99
        • Alter B.P.
        • Knobloch M.E.
        • He L.
        • et al.
        Effect of stem cell factor on in vitro erythropoiesis in patients with bone marrow failure syndromes.
        Blood. 1992; 80: 3000
        • Alter B.P.
        • Knobloch M.E.
        • Weinberg R.S.
        Erythropoiesis in Fanconi’s anemia.
        Blood. 1991; 78: 602
        • Alter B.P.
        • Young N.S.
        The bone marrow failure syndromes.
        in: Nathan D.G. Orkin S.H. Hematology of Infancy and Childhood. WB Saunders, Philadelphia, PA1998: 237
        • Arkin S.
        • Brodtman D.
        • Alter B.P.
        • et al.
        A screening test for Fanconi anemia using flow cytometry [abstract].
        Blood. 1993; 82: 176A
        • Auerbach A.D.
        • Alter B.P.
        Prenatal and postnatal diagnosis of aplastic anemia.
        in: Alter B.P. Methods in Hematology: Perinatal Hematology. Churchill Livingstone, Edinburgh1989: 225
        • Ballmaier M.
        • Schulze H.
        • Strauss G.
        • et al.
        Thrombopoietin in patients with congenital thrombocytopenia and absent radii: Elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin.
        Blood. 1997; 90: 612
        • Berger R.
        • Coniat M.L.
        • Gendron M.C.
        Fanconi anemia. Chromosome breakage and cell cycle studies.
        Cancer Genet Cytogenet. 1993; 69: 13
        • Boxer L.A.
        • Dale D.
        Congenital neutropenia and the risk of leukemia.
        J Pediatr. 1997; 130: 335
        • Brown K.E.
        • Green S.W.
        • Antunez de Mayolo J.
        • et al.
        Congenital anaemia after transplacental B19 parvovirus infection.
        Lancet. 1994; 343: 895
        • Butturini A.
        • Gale R.P.
        • Verlander P.C.
        • et al.
        Hematologic abnormalities in Fanconi anemia: An International Fanconi Anemia Registry study.
        Blood. 1994; 84: 1650
        • Camitta B.M.
        • Rock A.
        Acute lymphoidic leukemia in a patient with thrombocytopenia/ absent radii (TAR) syndrome.
        Am J Pediatr Hematol Oncol. 1993; 15: 335
        • Cervenka J.
        • Arthur D.
        • Yasis C.
        Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia.
        Pediatrics. 1981; 67: 119
        • Devriendt K.
        • Matthijs G.
        • Legius E.
        • et al.
        Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.
        Am J Hum Genet. 1997; 60: 581
        • Dianzani I.
        • Garelli E.
        • Crescenzio N.
        • et al.
        Diamond-Blackfan anemia: Expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenetic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q.
        Exp Hematol. 1997; 25: 1270
        • Dokal I.
        • Luzzatto L.
        Dyskeratosis congenita is a chromosomal instability disorder.
        Leuk Lymphoma. 1994; 15: 1
        • Donadieu J.
        Pathophysiology of Kostmann syndrome: The G-CSF receptor issue.
        Hematol Cell Ther. 1997; 39: 102
        • Donnenfeld A.E.
        • Wiseman B.
        • Lavi E.
        • et al.
        Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis.
        Prenat Diagn. 1990; 10: 29
        • Drachtman R.A.
        • Alter B.P.
        Dyskeratosis congenita: Clinical and genetic heterogeneity. Report of a new case and review of the literature.
        Am J Pediatr Hematol Oncol. 1992; 14: 297
        • Drachtman R.A.
        • Alter B.P.
        Dyskeratosis congenita.
        Dermatol Clin. 1995; 13: 33
        • Drachtman R.A.
        • Geissler E.N.
        • Alter B.P.
        The SCF and c-kit genes in Diamond-Blackfan anemia.
        Blood. 1992; 79: 2177
        • Forestier F.
        • Daffos F.
        • Galacteros F.
        • et al.
        Hematological values of 163 normal fetuses between 18 and 30 weeks of gestation.
        Pediatr Res. 1986; 20: 342
        • Giampietro P.F.
        • Verlander P.C.
        • Davis J.G.
        • et al.
        Diagnosis of Fanconi anemia in patients without congenital malformations: An International Fanconi Anemia Registry study.
        Am J Med Genet. 1997; 68: 58
        • Gillio A.P.
        • Verlander P.C.
        • Batish S.D.
        • et al.
        Phenotypic consequences of mutations in the Fanconi anemia FAC gene: An International Fanconi Anemia Registry study.
        Blood. 1997; 90: 105
        • Glader B.E.
        • 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
        • Guba S.C.
        • Sartor C.A.
        • Hutchinson R.
        • et al.
        Granulocyte colony-stimulating factor (G-CSF) production and G-CSF receptor structure in patients with congenital neutropenia.
        Blood. 1994; 83: 1486
        • Guinan E.C.
        • Lee Y.S.
        • Lopez K.D.
        • et al.
        Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia.
        Blood. 1993; 81: 1691
        • Gustavsson P.
        • Willing T.-N.
        • van Haeringen A.
        • et al.
        Diamond-Blackfan anaemia: Genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb.
        Nat Genet. 1997; 16: 368
        • Jakobs P.M.
        • Fiddler-Odell E.
        • Reifsteck C.
        • et al.
        Complementation group assignments in Fanconi anemia fibroblast cell lines from North America.
        Somat Cell Mol Genet. 1997; 23: 1
        • Joenje H.
        • Oostra A.B.
        • Wijker M.
        • et al.
        Evidence for at least eight Fanconi anemia genes.
        Am J Hum Genet. 1997; 61: 940
        • Kaira R.
        • Dale D.
        • Freedman M.
        • et al.
        Monosomy 7 and activating RAS mutations accompany malignant transformation in patients with congenital neutropenia.
        Blood. 1995; 86: 4579
        • Knight S.W.
        • Vulliamy T.
        • Forni G.L.
        • et al.
        Fine mapping of the dyskeratosis congenita locus in Xq28.
        J Med Genet. 1996; 33: 993
        • Kupfer G.M.
        • Naf D.
        • Suliman A.
        • et al.
        The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex.
        Nat Genet. 1997; 17: 487
        • Kwee M.L.
        • van der Kleij J.M.
        • van Essen A.J.
        • et al.
        An atypical case of Fanconi anemia in elderly sibs.
        Am J Med Genet. 1997; 68: 362
        • Lacaille F.
        • Mani T.M.
        • Brunelle F.
        • et al.
        Magnetic resonance imaging for diagnosis of Shwachman’s syndrome.
        J Pediatr Gastroenterol Nutr. 1996; 23: 599
        • Lo Ten Foe J.R.
        • Kwee M.L.
        • Rooimans M.A.
        • et al.
        Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance.
        Eur J Hum Genet. 1997; 5: 137
        • Lo Ten Foe J.R.
        • Rooimans M.A.
        • Bosnoyan-Collins L.
        • et al.
        Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
        Nat Genet. 1996; 14: 320
        • Lucky A.W.
        Pigmentary abnormalities in genetic disorders.
        Dermatol Clin. 1988; 6: 193
        • Lyman S.D.
        • Seaberg M.
        • Hanna R.
        • et al.
        Plasma/serum levels of flt3 ligand are low in normal individuals and highly elevated in patients with Fanconi anemia and acquired aplastic anemia.
        Blood. 1995; 86: 4091
        • Mack D.R.
        • Forstner G.G.
        • Wilschanski M.
        • et al.
        Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression.
        Gastroenterology. 1996; 111: 1593
        • Makitie O.
        • Kaitila I.
        Cartilage-hair hypoplasia - Clinical manifestations in 108 Finnish patients.
        Eur J Pediatr. 1993; 152: 211
        • McKusick V.A.
        • Eldridge R.
        • Hostetler J.A.
        • et al.
        Dwarfism in the Amish. II. Cartilage-hair hypoplasia.
        Bull Johns Hopkins Hosp. 1965; 116: 285
        • McLennan A.C.
        • Chitty L.S.
        • Rissik J.
        • et al.
        Prenatal diagnosis of Blackfan-Diamond syndrome: Case report and review of the literature.
        Prenat Diagn. 1996; 16: 349
        • Mempel K.
        • Pietsch T.
        • Menzel T.
        • et al.
        Increased serum levels of granulocyte colony-stimulating factor in patients with severe congenital neutropenia.
        Blood. 1991; 77: 1919
        • Muraoka K.
        • Ishii E.
        • Tsuji K.
        • et al.
        Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia.
        Br J Haematol. 1997; 96: 287
        • Pearson H.A.
        • Lobei J.S.
        • Kocoshis S.A.
        • et al.
        A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.
        J Pediatr. 1979; 95: 976
        • Perdahl E.B.
        • Naprstek B.L.
        • Wallace W.C.
        • et al.
        Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis.
        Blood. 1994; 83: 645
        • Polmar S.H.
        • Pierce G.F.
        Cartilage hair hypoplasia: Immunological aspects and their clinical implications.
        Clin Immunol Immunopathol. 1986; 40: 87
        • Rogers B.B.
        • Bloom S.L.
        • Buchanan G.R.
        Autosomal dominantly inherited Diamond Blackfan anemia resulting in nonimmune hydrops.
        Obstet Gynecol. 1997; 89: 805
        • Rose C.
        • Bauters F.
        • Galacteros F.
        Hydroxyurea therapy in highly unstable hemoglobin carriers.
        Blood. 1996; 88: 2807
        • Rotig A.
        • Cormier V.
        • Blanche S.
        • et al.
        Pearson’s marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
        J Clin Invest. 1990; 86: 1601
        • Schultz J.C.
        • Shahidi N.T.
        Tumor necrosis factor-a overproduction in Fanconi’s anemia.
        Am J Hematol. 1993; 42: 196
        • Smith O.
        • Hann I.M.
        • Chessells J.M.
        • et al.
        Haematological abnormalities in Shwachman-Diamond syndrome.
        Br J Haematol. 1996; 94: 279
        • Strathdee C.A.
        • Duncan A.M.V.
        • Buchwald M.
        Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9.
        Nat Genet. 1992; 1: 196
        • Strathdee C.A.
        • Gavish H.
        • Shannon W.R.
        • et al.
        Cloning of cDNAs for Fanconi’s anaemia by functional complementation.
        Nature. 1992; 356: 763
        • Sulisalo T.
        • Klockars J.
        • Makitie O.
        • et al.
        High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.
        Am J Hum Genet. 1994; 55: 937
        • Sulisalo T.
        • Sillence D.
        • Wilson M.
        • et al.
        Early prenatal diagnosis of cartilage-hair hypooplasia (CHH) with polymorphic DNA markers.
        Prenat Diagn. 1995; 15: 135
        • The Fanconi Anaemia/Breast Cancer Consortium
        Positional cloning of the Fanconi anaemia group A gene.
        Nat Genet. 1996; 14: 324
        • Verlander P.C.
        • Kaporis A.
        • Liu Q.
        • et al.
        Carrier frequency of the IVS4 + 4 → T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population.
        Blood. 1995; 86: 4034
        • Visser G.H.A.
        • Desmedt M.C.H.
        • Meijboom E.J.
        Altered fetal cardiac flow patterns in pure red cell anaemia (the Blackfan-Diamond syndrome).
        Prenat Diagn. 1988; 8: 525
        • Whitney M.
        • Thayer M.
        • Reif steck C.
        • et al.
        Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p.
        Nat Genet. 1995; 11: 341
        • Wunder E.
        • Mortensen B.T.
        • Schilling F.
        • et al.
        Anomalous plasma concentrations and impaired secretion of growth factors in Fanconi’s anemia.
        Stem Cells. 1993; 11: 144
        • Young N.S.
        • Alter B.P.
        Aplastic Anemia: Acquired and Inherited. WB Saunders, Philadelphia, PA1994: 410

      Article info

      Identification

      DOI: https://doi.org/10.1016/S0272-2712(18)30131-8

      Copyright

      © 1999 Elsevier Inc. Published by Elsevier Inc. All rights reserved.

      ScienceDirect

      Access this article on ScienceDirect

      The content on this site is intended for healthcare professionals.


      We use cookies to help provide and enhance our service and tailor content. To update your cookie settings, please visit the Cookie Preference Center for this site.
      Copyright © 2023 Elsevier Inc. except certain content provided by third parties.


      RELX