Fanconi Anemia

Fanconi anemia is a rare autosomal recessive inherited blood system disease, which belongs to congenital aplastic anemia. In addition to the typical aplastic anemia (pancytopenia), these patients also have short stature, low birth weight, abnormal defects in the thumb and arm, small head and ophthalmia, coffee milk spots, as well as various system abnormalities in the kidney, heart, and gastrointestinal system. Scientists have discovered that in Fanconi anemia patients, BRIP1, a key gene of the DNA helix, is missing, so many genes that interact with it cannot function, leading to a series of accompanying diseases or symptoms. For example, BRCA1 is unable to act on DNA transcription, so it often accompanies tumors.

Diagnosis of Fanconi Anemia

The diagnosis methods of Fanconi anemia are as follows:

• Blood routine. Thrombocytopenia usually occurs first and then gradually develops into pancytopenia. Anemia can present as large cell, reticulocyte decreased, and toxic particles can be seen in granulocytes.
• Bone marrow biopsy. Patients may develop focal hyperplasia with megaloid erythrocytes, bone marrow in vitro stem cell culture markers, and reduced erythrocyte colonies.
• Chromosome analysis. Chromosome breakage, monomer exchange and ring chromosome aberration are observed in peripheral blood lymphocyte culture. The reduction of sister chromosome exchange is more diagnostic.
• Molecular test. Including the single gene test and the phenotypic targeted test. Single gene test can first perform FANCA sequence analysis, and if only one pathogenic variant is found, then perform gene-targeted FANCA deletion/amplification analysis. If single-gene sequencing cannot identify FANCA pathogenic variants, phenotypic targeted detection including FANCM, FANCL, BRCA2 as well as other genes can be considered.

Advantages of Our Products

Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM and FANCN, etc. Creative Biogene's products are mainly kits and polyclonal antibodies of the above groups. Our products are very competitive in terms of quality and price, and they are easy to use and have high sensitivity. Using our products can assist you to get results with high accuracy and reproducibility so that you can reach your research goals quickly.

Creative Biogene has accumulated years of experience in Fanconi anemia diagnosis. It is sincerely looking forward to cooperating with you and providing you the best quality product with all of our hearts! You can choose us with confidence.

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Reference

1. Repczynska Anna, et al. (2020). "Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population–case report." Molecular cytogenetics. 13.1: 1-7.