Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis is a rare and complex form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that typically appears in infancy. This condition is characterized by:

• Moderate to severe macrocytic anemia: A significant reduction in the production of red blood cells, leading to pale skin, weakness, fatigue, and short stature.
• Erythroblastopenia: A decrease in the number of immature red blood cells in the bone marrow.
• Increased risk of malignancy: Patients with this condition are at a higher risk of developing cancer.

Additional Features

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis is often associated with:

• Mandibulofacial dysostosis: Abnormal development of the jaw and face, which can lead to midface hypoplasia.
• Abnormalities of the hands and feet: Patients may experience abnormalities in the shape or structure of their hands and feet.
• Heart defects: Some individuals with this condition may have heart defects.

Genetic Cause

This form of Diamond-Blackfan anemia is caused by a mutation in the TSR2 gene, which is located on chromosome Xp11. This genetic mutation leads to the malfunctioning of the bone marrow, resulting in the production of insufficient red blood cells.

References

• [3] In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues.
• [4] In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. The resulting ...
• [10] Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals.
• [12] Diamond-Blackfan anemia 14 with mandibulofacial dysostosis is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that typically appears in infancy. It is characterized by moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy.
• [14] Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene. ... Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Signs and Symptoms of Diamond-Blackfan Anemia (DBA) with Mandibulofacial Dysostosis

Diamond-Blackfan anemia (DBA) is a rare genetic disorder that affects the production of red blood cells. When DBA occurs with mandibulofacial dysostosis, it can cause a range of signs and symptoms, including:

• Congenital malformations: Individuals with DBA and mandibulofacial dysostosis may be born with physical abnormalities, such as:
  • Mandibular hypoplasia (underdeveloped jaw)
  • Micrognathia (small jaw)
  • Cleft palate
  • Ear anomalies
• Growth deficiency: Affected individuals may experience growth delays or failure to thrive.
• Hematologic complications: DBA with mandibulofacial dysostosis can lead to severe anemia, which may require frequent blood transfusions.
• Other symptoms: Some people with this condition may also experience:
  • Mild anemia
  • Slight changes to red blood cells
  • Minor physical changes

It's essential to note that the severity and range of signs and symptoms can vary significantly among individuals, even within the same family. The presence of mandibulofacial dysostosis can add complexity to the diagnosis and management of DBA.

References:

• [14] Diamond-Blackfan anemia (DBA) is a rare and complex genetic condition in which your body is unable to produce enough red blood cells.
• [13] Diamond Blackfan Anemia (DBA) ... and even in the same families, signs and symptoms may vary among affected family siblings.

Treatment Options for Diamond-Blackfan Anemia (DBA) 14 with Mandibulofacial Dysostosis

Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome that can be associated with various physical abnormalities, including mandibulofacial dysostosis. The treatment of DBA 14 with mandibulofacial dysostosis involves managing the underlying condition and addressing any related symptoms.

Steroid Therapy

One of the primary treatments for DBA is steroid therapy, which has been shown to be effective in approximately 30% of patients [8]. Corticosteroids, such as prednisone, can help stimulate erythropoiesis (red blood cell production) and improve anemia symptoms.

Other Treatment Options

In addition to steroid therapy, other treatment options for DBA may include:

• Chronic red blood cell transfusions: Regular transfusions of red blood cells can help manage anemia symptoms [7].
• Hematopoietic stem cell transplantation (HSCT): HSCT is a procedure that involves replacing the bone marrow with healthy stem cells. While it can be effective in correcting anemia, there is an increased risk of developing sarcoma [5].

Emerging Therapies

Recent studies have explored the use of other treatments for DBA, including:

• Fenofibrate: A U.S. FDA-approved drug for hypercholesterolemia and hypertriglyceridemia that may also be effective in reducing the dose of corticosteroids required to sustain erythropoiesis [11].
• Immunosuppressive therapy: Other forms of immunosuppression, such as cyclosporine or tacrolimus, have been investigated as potential treatments for DBA [7].

Genetic Testing and Counseling

Given the association between DBA 14 with mandibulofacial dysostosis and other genetic conditions, genetic testing and counseling may be recommended to identify any underlying genetic mutations.

It's essential to consult with a healthcare professional for personalized advice on managing DBA 14 with mandibulofacial dysostosis. They can help determine the best course of treatment based on individual circumstances.

References:

[5] Gripp K.W., Curry C., Olney A.H., et al. Diamond-Blackfan anemia with mandibulofacial dysostosis. [7] Hasan and Inoue, 1993; Gripp et al., 2001; McFarren et al., 2007; Handler et al., 2009 [8] Clinical resource with information about Diamond-Blackfan anemia 14 with mandibulofacial dysostosis [11] Gripp K.W., Curry C., Olney A.H., et al. Diamond-Blackfan anemia with mandibulofacial ...