A Brief Note On Diamond Blackfan Anemia ( Dba ) Is A Rare Genetic Disease Essay

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Diamond Blackfan anemia (DBA) is a rare genetic disease that causes defects in the ribosomal structure (Farber, 2016). The disease stems from a decrease in the production of erythroid precursors in the bone marrow, which results in an extremely low red blood cell count. Due to the reduction in the production of erythrocytes, most individuals diagnosed with this disease develop an array of issues that can be life threatening such as a predisposition to cancer and bone marrow failure. Within the first year of life, most symptoms of DBA will appear in most individuals (Ellis, 2014). The importance of understanding the genetics of DBA remains a priority in reducing the number of infants affected by a detrimental hereditary blood disorder. After the first description of DBA by Josephs, the disease was further studied and analyzed by Louis Diamond and Kenneth Blackfan in 1938 (Anupama Narla, 2011). Since Diamond and Blackfan discovered a lot of information on the disease through research, the disease was named after both doctors. Most of the families affected by DBA appear to pass the genetic mutation in a dominant manner. Though several genes have been identified in the development of DBA, mutations in the RPS19 gene has been linked to more cases of DBA. The RPS19 gene helps to produce certain ribosomal factors that are used in ribonucleic acid processing. Ribosomes are responsible for producing proteins on a cellular level. This mutation leads to the inability of

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