Diamond-Blackfan anemia is a rare blood disorder that has adverse effects on the bone marrow and its functionality. Bone marrow is the spongy substance located in the hollow core of the bones. It is responsible for the production of new red blood cells, white blood cells, and platelets. When an individual has Diamond-Blackfan anemia, they have bone marrow that cannot produce a sufficient supply of red blood cells to meet the needs of their body. This condition is caused by DNA mutations in certain genes that encode ribosomal proteins in eighty to eighty-five percent of cases, and the remaining twenty percent have an idiopathic form of Diamond-Blackfan anemia with no identified abnormal genes. A diagnosis is made using tests such as a CBC, reticulocyte count, mean corpuscular volume, eADA activity level, and genetic testing. Treatment of Diamond-Blackfan anemia may include a red blood cell transfusion, iron chelation, and corticosteroid medications.
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Fatigue And Weakness
Cells around the body have a specialized process they use to make energy so they can carry out their functions. For the cells to carry out this energy production process, they must have an adequate supply of glucose and oxygen. Oxygen enters the body through the lungs, where red blood cells pass through the air sacs and undergo carbon dioxide-oxygen exchange. Once the carbon dioxide has been exchanged for oxygen, the red blood cells carry oxygen through circulation around the body to all of the tissues. However, oxygen cannot be carried to the tissues if there are not enough red blood cells in the blood to carry out the task of transporting it. This mechanism is what occurs in Diamond-Blackfan anemia patients. Without enough oxygen, the cells are unable to produce an adequate amount of energy, and when the body has a shortage of energy, the energy it does have is redistributed to the cells that make up the most important tissues, like those of the brain, heart, and lungs. This mechanism leaves little left for the cells in the muscles, which is what causes an affected individual to feel fatigue and weakness.
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