Fanconi anemia Disease

About Gene:

Fanconi anemia (FA) is a rare genetic disorder that is inherited in an autosomal recessive manner, with 2% of cases being inherited in an X-linked recessive manner. It is a rare blood disorder involving all 3 cell lines and is the most common form of inherited aplastic anemia, occurring in 1 in 136000 live births. The condition is frequently diagnosed in children 3-14 years of age. Several proteins encoded by FA genes maintain genomic stability by the formation of DNA interstrand cross links (ICLs), which prevent DNA strand separation. People with Fanconi anemia have mutations in FA genes that affect DNA repair, particularly homologous recombination. This results in genomic instability and increased susceptibility to cytotoxic agents and malignancies. Complications of the disease include bone marrow failure, blood cancer and liver cancer.

Number of Patients: 2

Disease Causing Genes:

LOC100421207 LOC107303338 LOC107303337 IMMTP1 LOC107303341 FANCD2P2 LOC107303340 LOC101060064 CENPS-CORT BRCA1 BRCA2 FANCD2 FANCA FANCC FANCI FANCG FANCF FANCL FANCE FANCB FANCM FAN1 RAD51 TP53 FAAP100 TNF FAAP20 PALB2 ALDH2 FAAP24 PALB2 TGFB1 CENPS BRIP1 ERCC4 ZBTB32 IL10 CENPX MTOR IFNG ATM XRCC2 RAD51C UBE2T PARP1 SLX4 CAV1 RUNX1 LMNA STAT1 NPM1 HSP90AA1 ERCC1 ATR TP73 MAD2L2 CHEK2 CHEK1 VIM ZEB1 CDC42 TOP2A EGR1 AFP RUNX3 EIF2AK2 NBN FBXW7 CD34 XPO1 FANCD2OS FANCD2P1 XRCC6 MITF WRN CD38 RPA1 TP53BP1 SF3B1 ATRX BLM DAXX PRF1 MECOM KAT5 FEN1 BIRC3 TLR8 BIRC2 CAPN1 RFWD3 SPTAN1 HES1 PABPN1 ATP5F1A RAD18 POLI IL3RA CEBPD SETX RNF8 ADH5 REV1 USP1 FLT3LG UIMC1 SCO2 RAD51D MIR181C ROMO1 SLFN11 COX4I1 CEBPZ PJA1 IPO4 DCLRE1B SMC5 UBE2W USP48 SMC6 ATAD5 NDUFA1 LOC107303339 PKNOX2 FAM120B

Sign and Symptoms:

  1. Learning disability
  2. Scoliosis
  3. Microcephaly
  4. Short stature
  5. Abnormal heart, lung, digestive tract
  6. Vitiligo, darkened areas of skin
  7. Abnormal ears, deafness
  8. Malformed kidneys
  9. Low birth weight
  10. Small testicles
  11. Problems in bone structure, extra fingers or abnormal thumbs
  12. Bone marrow failure

Diagnosis:

Cases are diagnosed based on conditions caused by FA such as physical abnormalities, progressive bone marrow failure, cancers such as acute myeloid leukemia, or head, neck and skin tumors. Other diagnostic tests include bone marrow biopsy, Magnetic Resonance Imaging (MRI) and ultrasound. Blood tests include basal metabolic panel (BMP), complete blood count (CBC) and reticulocyte count. Genetic tests include genetic screening and chromosome breakage test. Prenatal tests include amniocentesis and chorionic villi sampling.

Preventions:

Families with a history of relatives having this condition should undergo genetic counselling to assess their risk of passing on the disease to their offspring. People afflicted with the condition should get vaccination to reduce infections and avoid carcinogenic substances.

Treatment:

Bone marrow transplant Prescription of growth factors (erythropoietin, G-CSF, and GM-CSF) can improve blood cell count Hormone therapy Surgery to correct physical abnormalities or organ defects