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An International Peer Reviewed Journal for Pharmaceutical, Medical & Biological Sciences

An Official Publication of Society for Advance Healthcare Research (Reg. No. : 01/01/01/31674/16)

European Journal of Pharmaceutical and Medical Research (EJPMR) has indexed with various reputed international bodies like : Google Scholar , Indian Science Publications , InfoBase Index (In Process) , SOCOLAR, China , Research Bible, Fuchu, Tokyo. JAPAN , International Society for Research activity (ISRA) , Scientific Indexing Services (SIS) , Polish Scholarly Bibliography , Global Impact Factor (GIF) (Under Process) , Universal Impact Factor , International Scientific Indexing (ISI), UAE  , Index Copernicus , CAS (A Division of American Chemical Society) USA (Under Process) , Directory of Open Access Journal (DOAJ, Sweden, in process) , UDLedge Science Citation Index , CiteFactor , Directory Of Research Journal Indexing (DRJI) , Indian citation Index (ICI) , Journal Index (JI, Under Process) , Directory of abstract indexing for Journals (DAIJ) , Open Access Journals (Under Process) , Impact Factor Services For International Journals (IFSIJ) , Cosmos Impact Factor , Jour Informatics (Under Process) , Eurasian Scientific Journal Index (ESJI) , International Innovative Journal Impact Factor (IIJIF) , Science Library Index, Dubai, United Arab Emirates , Pubmed Database [NLM ID: 101669306] (Under Process) , IP Indexing (IP Value 2.40) , Web of Science Group (Under Process) , Directory of Research Journals Indexing , Scholar Article Journal Index (SAJI) , International Scientific Indexing ( ISI ) , Scope Database , Academia , 

 ISSN 2394-3211

Impact Factor: 7.065

 ICV - 79.57



*Poonam Pandhari Jawarkar, Laxmi Suresh Ghatol, Bhavika Ambadas Sapkal, Ankit Vinod Chikte, Prof. P. N. Folane and Dr. R. H. Kale, Dr. K. R. Biyani


This review summarises the clinical features of Fanconi Anemia and the natural history of the disease, discusses diagnosis and management, and puts the recent molecular advances into the context of the cellular and clinical Fanconi anemia phenotype. Fanconi Anemia is a rare, genetic heterogeneous multisystem disease that is the most common congenital syndrome of marrow failure. The much increased risk of FA Patients developing leukaemia and squamous cell carcinomas makes FA an important model disease for cancer predisposition. Fanconi anemia patients are characterized by pancytopenia, congential malformations, growth delay and an increased susceptibility to the development of malignancies, particularly acute myelogenous leukemia. Fanconi anemia is caused by the genetic interruption of cellular pathway that repairs DNA interstrand crosslinks. The impaired function of this pathway, and the genetic instability that results, is considered the main pathogenic mechanism behind the disease. It is mostly autosomal (except one X-link) recessive disorder characterized by diverse congenital malformations, progressive pancytopenia and predisposition to both haematological malignancy and solid tumors. Although this highly variable phenotype makes accurate diagnosis on the basis of clinical manifestations difficult in some patients, laboratory study of chromosomal breakage induced by diepoxybutane (DEB) or other crosslinking agents provides a unique cellular marker for the diagnosis of the disorder either prenatally or postnatally. Diagnosis based on abnormal response to DNA crosslinking agents can be used to identify the pre - anemia patient as well as patients with aplastic anemia or leukemia who may or may not have the physical stigmata associated with the syndrome. This overview will present our present knowledge regarding the varied phenotypic manifestation of FA and procedures for diagnosis based upon abnormal DNA damage responses. Chromosomal instability, especially an exposure to alkylating agents, may be shown in affected subjects and is the basis for a diagnostic test. FA can be caused by mutations is at least seven different genes. Interaction pathways have been established, both between the FA proteins and other proteins involved in DNA damage repair, such as ATM, BRCA1 and BRCA2, thereby providing a link with other disorders in which defective DNA damage repair is a feature.

Keywords: Chromosomal Instability, Congenital Anomalies, Hematologic Abnormalities, DNA crosslink sensitivity, Somatic mosaicism.

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  • EJPMR New Impact Factor

    EJPMR Impact Factor has been Increased to 7.065 for Year 2024.


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Google Scholar Indian Science Publications InfoBase Index (In Process) SOCOLAR, China Research Bible, Fuchu, Tokyo. JAPAN International Society for Research activity (ISRA) Scientific Indexing Services (SIS) Polish Scholarly Bibliography Global Impact Factor (GIF) (Under Process) Universal Impact Factor International Scientific Indexing (ISI), UAE Index Copernicus CAS (A Division of American Chemical Society) USA (Under Process) Directory of Open Access Journal (DOAJ, Sweden, in process) UDLedge Science Citation Index CiteFactor Directory Of Research Journal Indexing (DRJI) Indian citation Index (ICI) Journal Index (JI, Under Process) Directory of abstract indexing for Journals (DAIJ) Open Access Journals (Under Process) Impact Factor Services For International Journals (IFSIJ) Cosmos Impact Factor Jour Informatics (Under Process) Eurasian Scientific Journal Index (ESJI) International Innovative Journal Impact Factor (IIJIF) Science Library Index, Dubai, United Arab Emirates Pubmed Database [NLM ID: 101669306] (Under Process) IP Indexing (IP Value 2.40) Web of Science Group (Under Process) Directory of Research Journals Indexing Scholar Article Journal Index (SAJI) International Scientific Indexing ( ISI ) Scope Database Academia