A clinicopathological study of fanconi anemia in a tertiary care centre in coastal India

Jyoti R. Kini, Vinita Torquato, Ali Kumble, N. Nutan Kamath, Sharada Rai, Urmila N. Khadilkar

Research output: Contribution to journalArticle

Abstract

Fanconi anaemia is a rare autosomal recessive disorder (birth incidence of 1 per 350000), characterized by chromosome instability that presents with a variety of congenital anomalies, progressive cytopenia, and susceptibility to the development of several malignancies. The study included cases that were diagnosed and treated at a tertiary care centre over a period of five years. The laboratory investigations including hemogram, peripheral smear, bone marrow aspirate and biopsy were correlated with the clinical, radiological and cytogenetic findings wherever available. A total of six cases of pancytopenia were confirmed to be Fanconi anaemia based on clinical, bone marrow and cytogenetic correlation (in two cases). Of the six cases studied, there were two pairs of siblings affected. The median age of diagnosis was six years of age. Of the six patients, three were males and three females. Bone marrow aspiration was done in all six cases and reported as hypoplastic marrow. Cytogenetic study was done in 2 of the cases which showed chromosomal breakage. Four out of the six had skeletal abnormalities. Three had organ abnormality with one having patent ductus arteriosis at birth, second case had multicystic dysplasia of bilateral kidneys and the third case had bilateral pelvic kidney. In the study, the patients presented with clinical features and haematological abnormalities suggestive of Fanconi anaemia with cytogenetic confirmation in 2 cases. Bone marrow failure resulted in death for four out of six patients.

Original languageEnglish
Pages (from-to)1280-1284
Number of pages5
JournalResearch Journal of Pharmaceutical, Biological and Chemical Sciences
Volume7
Issue number2
Publication statusPublished - 01-01-2016

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Fanconi Anemia
Tertiary Care Centers
India
Bone
Cytogenetics
Bone Marrow
Multicystic Dysplastic Kidney
Biopsy
Parturition
Chromosomes
Chromosome Breakage
Chromosomal Instability
Pancytopenia
Patent Ductus Arteriosus
Siblings
Kidney
Incidence
Neoplasms

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)
  • Pharmacology, Toxicology and Pharmaceutics(all)

Cite this

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abstract = "Fanconi anaemia is a rare autosomal recessive disorder (birth incidence of 1 per 350000), characterized by chromosome instability that presents with a variety of congenital anomalies, progressive cytopenia, and susceptibility to the development of several malignancies. The study included cases that were diagnosed and treated at a tertiary care centre over a period of five years. The laboratory investigations including hemogram, peripheral smear, bone marrow aspirate and biopsy were correlated with the clinical, radiological and cytogenetic findings wherever available. A total of six cases of pancytopenia were confirmed to be Fanconi anaemia based on clinical, bone marrow and cytogenetic correlation (in two cases). Of the six cases studied, there were two pairs of siblings affected. The median age of diagnosis was six years of age. Of the six patients, three were males and three females. Bone marrow aspiration was done in all six cases and reported as hypoplastic marrow. Cytogenetic study was done in 2 of the cases which showed chromosomal breakage. Four out of the six had skeletal abnormalities. Three had organ abnormality with one having patent ductus arteriosis at birth, second case had multicystic dysplasia of bilateral kidneys and the third case had bilateral pelvic kidney. In the study, the patients presented with clinical features and haematological abnormalities suggestive of Fanconi anaemia with cytogenetic confirmation in 2 cases. Bone marrow failure resulted in death for four out of six patients.",
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A clinicopathological study of fanconi anemia in a tertiary care centre in coastal India. / Kini, Jyoti R.; Torquato, Vinita; Kumble, Ali; Nutan Kamath, N.; Rai, Sharada; Khadilkar, Urmila N.

In: Research Journal of Pharmaceutical, Biological and Chemical Sciences, Vol. 7, No. 2, 01.01.2016, p. 1280-1284.

Research output: Contribution to journalArticle

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