Presentation
Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. [ncbi.nlm.nih.gov]
Entire Body System
- Fatigue
Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia [medlineplus.gov]
Face, Head & Neck
- Short Neck
[from GeneReviews] Show allHide all Abnormal cellular phenotype Chromosomal breakage induced by crosslinking agents Abnormality of blood and blood-forming tissues Aplastic anemia Abnormality of head or neck Epicanthal fold Short neck Abnormality of limbs [ncbi.nlm.nih.gov]
Treatment
[…] or care after the subject has ended the participation in the trial (if it is different from the expected normal treatment of that condition) Patients will be followed-up for 3 years. [clinicaltrialsregister.eu]
ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs. Eight proteins associated with Fanconi anemia group together to form a complex known as the FA core complex. [medlineplus.gov]
Prevention
[…] with Fanconi anemia subtype A • Level of engraftment of gene-corrected hematopoietic cells after the infusion of autologous CD34+ cells transduced with the therapeutic lentiviral vector in patients with Fanconi anemia subtype A • Clinical response (prevention [clinicaltrialsregister.eu]