Study of fanconi anemia complementation groups in Indian fanconi anemia subjects

Fanconi anaemia (FA) is a rare autosomal or X-linked genetic disorder. It is characterized by chromosomal instability, leading to spontaneous breakages, a key feature that serves as the gold standard for diagnosis. Chromosomal breakages analysis using DNA intercalating agents such as Mitomycin-C (MMC) is used for the diagnosis of FA patients. Patients with FA often present with congenital abnormalities, including skin pigmentations, skeletal deformities, short stature and microcephaly. BMF is the hallmark of the disease resulting in progressive hematopoietic dysfunction that manifest as thrombocytopenia, bicytopenia, aplastic anemia and an increased risk of haematological malignancies such as MDS and AML. Additionally, FA subjects are predisposed to solid tumours such as head and neck squamous cell carcinomas (HNSCC). To date, 22 FANC genes have been known to be involved in the FA pathway. This wide number of pathway components makes molecular diagnosis challenging for FA. However, with advancement in technology, particularly such as Next generation sequencing (NGS), the identification of FA mutations has become more accessible, improving the diagnostic accuracy and facilitating early intervention. This current dataset comprises demographic, clinical and genetic data of Indian FA subjects. It provides valuable insights into the phenotypic diversity of FA subjects highlighting the variations in disease presentation. Furthermore, understanding the genotype-phenotype correlation in Indian FA subjects is important to understand the molecular basis of the disease and for better disease management and genetic counselling. This data has been collected over a span of 11 years (2010-2020) from all over India, under guidance of Dr. V Babu Rao (Scientist G), ICMR-National Institute of Immunohaematology, Mumbai. Study duration: 11 years Start date: January 01, 2010 End date: December 31, 2020