Diagnosis of Fanconi Anaemia by Phenotype and Genetic study

Fanconi anaemia (FA) is an inherited bone marrow failure syndrome (IBMFS) that is common among children, in a ratio of one (1) person out of a population of 181 individuals. Early screening and/or detection of FA among intending couples or families with history of IBMFS is very important, to avoid bearing children with physical deformities and high risk of cancer development, as most sufferers have a very high possibility of the development of cancer. Therefore, this research was aimed at creating awareness on the dangers of late detection of IBMFS related diseases, basically Fanconi Anaemia.The most significant marker for Fanconi Anaemia (FA) diagnosis is the appearance of recurrent patterns of chromosome breakages. Fractures were noticeable when chromosome samples were treated with Diepoxybutane (DEB), Mitomicin C (MMC) or other similar chemical treatments. PCR and Bone Marrow Biopsy were deployed as confirmatory test.