Fanconi anemia type 2

Fanconi Anemia Type 2

Fanconi anemia (FA) is a rare genetic disorder that leads to bone marrow failure, increased cancer risk, and various congenital abnormalities. Fanconi anemia type 2 is one of the subtypes of this condition, characterized by specific genetic mutations and clinical features.

Genetics

Fanconi anemia type 2 is caused by mutations in the FANCD2 gene, which plays a crucial role in the DNA repair pathway. The FANCD2 protein is part of the Fanconi anemia core complex, which is responsible for repairing DNA interstrand crosslinks. Mutations in the FANCD2 gene disrupt this repair process, leading to genomic instability and the clinical manifestations of Fanconi anemia.

Clinical Features

Patients with Fanconi anemia type 2 may present with a variety of symptoms, including:

• Bone Marrow Failure: This is a hallmark of Fanconi anemia, leading to pancytopenia, which includes anemia, leukopenia, and thrombocytopenia.
• Congenital Abnormalities: These can include skeletal anomalies, such as radial ray defects, short stature, and developmental delays.
• Increased Cancer Risk: Individuals with Fanconi anemia type 2 have a higher risk of developing acute myeloid leukemia (AML) and squamous cell carcinoma of the head and neck and other regions.

Diagnosis

Diagnosis of Fanconi anemia type 2 involves:

• Chromosomal Breakage Test: This test assesses the sensitivity of chromosomes to DNA crosslinking agents, such as diepoxybutane (DEB) or mitomycin C (MMC).
• Genetic Testing: Identification of mutations in the FANCD2 gene confirms the diagnosis.

Management

Management of Fanconi anemia type 2 includes:

• Hematopoietic Stem Cell Transplantation (HSCT): This is the only curative treatment for bone marrow failure in Fanconi anemia.
• Androgen Therapy: Androgens can stimulate erythropoiesis and improve blood counts in some patients.
• Supportive Care: Regular monitoring and treatment of infections, bleeding, and anemia are essential.

Prognosis

The prognosis for individuals with Fanconi anemia type 2 varies depending on the severity of bone marrow failure and the development of malignancies. Early diagnosis and appropriate management can improve outcomes.

Also see

• Fanconi anemia
• FANCD2
• Bone marrow failure
• DNA repair