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Cytogenetic and molecular miagnosis of Fanconi anemia

Diagnóstico citogenético e molecular da anemia de Fanconi

IMAGENS EM HEMATOLOGIA

Cytogenetic and Molecular Diagnosis of Fanconi Anemia

Diagnóstico citogenético e molecular da anemia de Fanconi

Carmen S. P. LimaI; Gustavo J. LourençoI; Davi E. A. RodriguezII; Maristela ZoccaI; Carmen S. BertuzzoII

IHaematology and Haemotherapy Centre

IIDepartment of Medical Genetics, State University of Campinas, Campinas, São Paulo, Brazil

Endereço para correpondência Endereço para correspondência Carmen Silvia Passos Lima, MD, PhD. Hemocentro – Unicamp – Cidade Universitária "Zeferino Vaz" Caixa Postal 6198, Cep: 13083-970 – Campinas-SP – Brazil Phone: + 55 19 3788-8729 – Fax: + 55 19 3788-8600 – E-mail: carmenl@unicamp.br

Fanconi anaemia (FA) is an autosomal recessive disorder associated with a very high frequency of bone marrow failure, developmental abnormalities, such as aplasia of the thumb and radius, growth retardation, hyper-pigmentation, kidney and urinary tract malformations, and high risk of developing a malignant disease, particularly acute myelogenous leukaemia.1

Somatic cell fusion studies have shown that FA is genetically heterogeneous, resulting from mutations in at least eight complementary gene groups (FANC A, B, C, D1, D2, E, F, and G).1

Lymphocytes culture shows an increased sensitivity to the clastogenic agents diepoxybutane (DEB) or mytomycin (MMC). These agents induce DNA damage, mutations, chromosomal rearrangements and cell death in FA patients.2 The DEB test is considered as the gold standard for diagnosis of disease (reference). However, its effectiveness has been questioned considering that a negative test was found in some cases diagnosed by molecular analysis.3

Herein, we present one patient with aplastic anaemia, who was diagnosed as FA by conventional cytogenetic2 and molecular4 analyses (Figures 1 and 2). It is important to comment that both analyses permitted proper management of the haematologic disease and genetic counselling for the family.



Bibliographic References

1. Owen J. Fanconi Anemia: Standards for Clinical Care. Fanconi Anemia Research Foundation Incorporation, Oregon, USA. p. 106, 1999.

2. Rosendorf J, Bernstein R, Macdougall L et al: Fanconi anemia: another disease of unusually high prevalence in the African population of South Africa. Am J Med Genet 1987;27:793-797.

3. Pearson T, Jansen S, Havenga C et al: Fanconi anemia: a statistical evaluation of cytogenetic results obtained from South African families. Cancer Genet Cytogenet 2001;126:52-55.

4. Gibson RA, Morgan NV, Goldstein LH et al: Novel mutations and polymorphisms in the Fanconi anemia group C gene. Human Mutat 1996;8:140-148.

Recebido: 11/07/2003

Aceito após modificações: 15/08/2003

Avaliação: Editor e um revisor externo

Conflito de interesse: não declarado

  • Endereço para correspondência

    Carmen Silvia Passos Lima, MD, PhD.
    Hemocentro – Unicamp – Cidade Universitária "Zeferino Vaz"
    Caixa Postal 6198, Cep: 13083-970 – Campinas-SP – Brazil
    Phone: + 55 19 3788-8729 – Fax: + 55 19 3788-8600 – E-mail:
  • Publication Dates

    • Publication in this collection
      18 Feb 2004
    • Date of issue
      2003
    Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular R. Dr. Diogo de Faria, 775 cj 114, 04037-002 São Paulo/SP/Brasil, Tel. (55 11) 2369-7767/2338-6764 - São Paulo - SP - Brazil
    E-mail: secretaria@rbhh.org