Diamond Blackfan Anemia_J. Lovett_ Presentation

Genetics and Mutations

DiamonD Blackfan Anemia

A visual display of the physical effects of DBA.

How is DBA inherited?

Jayetta Lovett

DBA is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells. This impacts the ability of the body to circulate oxygen.

A visual representation of the genes involved in DBA,

Ribosomes in DBA

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Lifespan of individuals with DBA

An illustration of autosomal dominat inheritance .

Symptoms and Treatments

An illistration of a ribosomal structure.

A image of an infant female with DBA.

A image of an infant male affected by DBA.

A visual explaination of how DBA affects the bone marrow.

• Click here for references

Genetics and Mutations

• The Mutated Genes Involved in DBA:

• RPS19: seen in 25% of patients

• RPL5: seen in 7% of patients
• RPL11: seen in 5% of patients
• RPL35a: seen in 3% of patients
• RPS26: seen in 3-6% of patients
• RPS24: seen in 2% of patients
• RPS17: seen in 1% of patients
• RPS7: seen in 1% of patients
• RPS10: seen in 3-6% of patients
• RPL19: unknown
• RPL26: unknown
• RPS29:unknown
• RPL31: unknown
• GATA1: unknown

• The RPS19 gene provides instructions for making one of approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. Ribosomes process the cell's genetic instructions to create proteins.

• In DBA, the RPS19 gene is altered by various missense mutations such as c.3G> , a missense mutation of exon 2 resulting in p.Met1Ile, . The point mutations involved causes RPS19 to not be able to make ribosomal proteins that are needed in the human body.

Chromosome 19 is where the RPS19 gene is located. (19q13.2)

Symptoms and Treatments

Symptoms Treatment Plans

What are the symptoms of Diamond Blackfan Anemia?

• The anemia deficiency involved in DBA may cause (sometimes) white blood cells and platelets to be lower. Other symptoms of anemia include rapid heartbeat, pale skin, sleepiness, irritability, poor appetite, and weakness.

• DBA also causes physical abnormalities such as small head size (also known as microcephaly) characteristic facial features, cleft palate, cleft lip, short and webbed neck, small shoulder blades, and defects of the hands.

What are some treatments to help with the symptoms listed?

• Corticosteroid drugs- helps make bone marrow produce more red blood cells.

• Blood transfusion- Whole blood or red blood cells from a healthy donor can take the place of the blood cells in the body of DBA affected patient's.

• Bone marrow/stem cell transplant. This treatment replaces damaged bone marrow with healthy stem cells from a donor. It is the only cure for DBA.

References

• Chae, H., Park, J., Kim, M., Lim, J., Kim, Y., Han, K., Lee, J., Chung, N. G., Cho, B., & Kim, H. K. (2010). The Korean journal of laboratory medicine, 30(3), 249–254. https://doi.org/10.3343/kjlm.2010.30.3.249

• Flygare, J., Aspesi, A., Bailey, J. C., Miyake, K., Caffrey, J. M., Karlsson, S., & Ellis, S. R. (2007). Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood, 109(3), 980–986. https://doi.org/10.1182/blood-2006-07-038232

• Jahan, D., Al Hasan, M. M., & Haque, M. (2020). Diamond-Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature. Journal of pharmacy & bioallied sciences, 12(2), 163–170. https://doi.org/10.4103/jpbs.JPBS_234_19

• Mara Angelini, Stefano Cannata, Valentina Mercaldo, Luisa Gibello, Claudio Santoro, Irma Dianzani, Fabrizio Loreni, Missense mutations associated with Diamond–Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome, Human Molecular Genetics, Volume 16, Issue 14, 15 July 2007, Pages 1720–1727

• Muir, C., Dodds, A., & Samaras, K. (2017). Mid-life extra-haematopoetic manifestations of Diamond-Blackfan anaemia. Endocrinology, diabetes & metabolism case reports, 2017, 16-0141. https://doi.org/10.1530/EDM-16-0141

• Rarediseases.info.nih.gov. 2017. Diamond-Blackfan anemia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. [online] Available at: <https://rarediseases.info.nih.gov/diseases/6274/diamond-blackfan-anemia> [Accessed 17 November 2021].

• Vlachos, A., & Muir, E. (2010). How I treat Diamond-Blackfan anemia. Blood, 116(19), 3715–3723. https://doi.org/10.1182/blood-2010-02-251090