Fanconi anemia complementation group E

Fanconi anemia (FA) complementation group E, also known as FA-E, is a subtype of Fanconi anemia that was first identified by Joenje et al. in 1995 [1]. This group is distinct from the other four subtypes of Fanconi anemia, which are designated as groups A, B, C, and D.

According to Wegner et al. (1996), the FA-E group may itself be heterogeneous, suggesting that there could be multiple genetic variants within this subgroup [3].

The FACE group, which includes FA-E, is defined as being different from groups A, B, C, and D, and may have distinct clinical features or molecular characteristics.

It's worth noting that Fanconi anemia complementation group E is a rare subtype of the disease, and more research is needed to fully understand its characteristics and implications for patients with this condition.

References: [1] Joenje et al. (1995) - Evidence for a fifth subtype of Fanconi anemia, designated group E. [3] Wegner et al. (1996) - Also described the fifth Fanconi anemia complementation group.

Fanconi anemia (FA) is a rare genetic disorder that affects various parts of the body. The signs and symptoms of FA can vary from person to person, but here are some common ones:

• Bone marrow failure: This is one of the most common symptoms of FA, where the bone marrow fails to produce enough blood cells, leading to anemia, infections, and bleeding problems [2][6].
• Short stature: Many people with FA experience short stature, which can be a result of bone marrow failure or other genetic abnormalities [5][9].
• Abnormal limbs: Individuals with FA may have abnormal thumbs, forearms, or other skeletal problems, including malformed limbs [1][5].
• Developmental disabilities: Some people with FA may experience developmental delays or disabilities, such as delayed speech or motor skills [7].
• Cancer predisposition: People with FA are at a higher risk of developing certain types of cancer, particularly leukemia and other blood-related cancers [8].

It's worth noting that not everyone with FA will exhibit all of these symptoms, and some people may have no visible signs or symptoms at all. However, if you or someone you know is experiencing any of these symptoms, it's essential to consult a medical professional for proper diagnosis and treatment.

References:

[1] Context result 5: "Other possible symptoms of Fanconi anemia include malformed thumbs or forearms and other skeletal problems including short stature; malformed..."

[2] Context result 2: "Affected individuals experience extreme tiredness (fatigue) due to low

Diagnostic Tests for Fanconi Anemia Complementation Group E

Fanconi anemia (FA) complementation group E, also known as FANCE, is a genetic disorder that affects the body's ability to repair DNA damage. Diagnostic tests are essential to confirm the diagnosis of FA and determine the specific complementation group involved.

Complementation Typing

Complementation typing is a recommended diagnostic test for Fanconi anemia (FA) complementation groups, including FANCE [3]. This test involves exposing cells to cross-linking chemicals, such as mitomycin C (MMC) or diepoxybutane (DEB), and observing the response. Cells from individuals with FA will exhibit hypersensitivity to these chemicals, whereas normal cells will not.

Other Diagnostic Tests

In addition to complementation typing, other diagnostic tests may be used to confirm the diagnosis of FANCE:

• Complete Blood Count (CBC): A CBC may reveal trilineage pancytopenia or macrocytic red blood cells for age [6].
• Genetic Testing: Genetic testing can identify mutations in the FANCE gene, confirming the diagnosis of FA complementation group E.
• Cytogenetic Analysis: Cytogenetic analysis can be performed to detect chromosomal abnormalities associated with FA.

Diagnostic Centers

Several diagnostic centers offer testing for Fanconi anemia and its complementation groups:

• A Cytogenetic Laboratory at the Dana-Farber Cancer Institute: This laboratory offers diagnosis, DEB testing, and complementation group analysis for patients with FA [14].
• Complementation Typing Laboratories: CLIA-certified laboratories provide complementation typing services for patients suspected of having FA.

References

[3] Singh, T.R., et al. Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. Blood, 2009. 114(1): p. 174-80. [6] Jul 8, 2022 — In Fanconi anemia, the complete blood count (CBC) may reveal trilineage pancytopenia or may only show RBCs that are macrocytic for age. [14] A diagnostic and evaluation center for new and known patients with Fanconi Anemia. This program provides both consultative services and comprehensive care for patients with FA.

Current Treatments for Fanconi Anemia Complementation Group E

Fanconi anemia complementation group E (FANCE) is a rare genetic disorder that affects the body's ability to repair DNA damage. While there are no specific treatments mentioned in the search results for FANCE, current treatments for Fanconi anemia in general may be relevant.

• Androgen administration: This treatment involves administering androgens, such as testosterone, to help stimulate bone marrow production.
• Hematopoietic growth factors administration: This treatment involves using medications that stimulate the production of blood cells.
• Hematopoietic stem cell transplantation (HSCT): This is a procedure where healthy stem cells are transplanted into the body to replace damaged ones.

It's worth noting that these treatments may not be specific to FANCE, but rather to Fanconi anemia in general. The search results do not provide information on any drug treatment specifically for FANCE.

References

• [2] Current treatments of FA include androgen administration, hematopoietic growth factors administration and hematopoietic stem cell transplantation (HSCT).
• [6] Complementation group analysis (research basis); Personalized treatment regimens by specialists in ...
• [15] Institution of drugs such as fludarabine has lowered the risk of graft failure, ... Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia.

Fanconi anemia (FA) complementation group E is a rare genetic disorder characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy.

Differential diagnosis of FA complementation group E:

The differential diagnosis of FA complementation group E generally includes acquired aplastic anemia, AMT, TAR syndrome as well as VATER/VACTRL (vertebral anomalies, anal atresia, tracheoesophageal fistula, radial and renal dysplasia) [8].

Other conditions to consider:

• Acquired aplastic anemia: a condition characterized by bone marrow failure due to damage or destruction of the bone marrow cells.
• AMT (Amegakaryocytic thrombocytopenia): a rare genetic disorder that affects the production of platelets in the bone marrow.
• TAR syndrome (Thrombocytopenia-absent radius syndrome): a rare genetic disorder characterized by low platelet count and absence or underdevelopment of one or both radii bones.
• VATER/VACTRL: a rare congenital disorder characterized by vertebral anomalies, anal atresia, tracheoesophageal fistula, radial and renal dysplasia.

Key features to consider in differential diagnosis:

• Physical abnormalities such as small size, abnormal thumbs and/or radial bones, skin pigmentation, small heads, small ears [5].
• Bone marrow failure and increased risk for malignancy [9].

It's essential to note that the differential diagnosis of FA complementation group E requires a comprehensive evaluation by a qualified healthcare professional, taking into account the patient's medical history, physical examination, and laboratory results.

References: [8] - The differential diagnosis of FA generally includes acquired aplastic anemia, AMT, TAR syndrome as well as VATER/VACTRL (vertebral anomalies, anal atresia, tracheoesophageal fistula, radial and renal dysplasia). [5] - Early diagnoses are facilitated in patients with birth defects, such as small size, abnormal thumbs and/or radial bones, skin pigmentation, small heads, small ears. [9] - Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy.