Serious Symptoms Of Diamond-Blackfan Anemia

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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Pale Skin

Pale skin, when an individual has abnormally light skin and or mucous membranes in comparison with their usual complexion, is a hallmark symptom of any type of anemia, including Diamond-Blackfan anemia. It can occur as a generalized symptom all around the body, or it may be isolated to one area. The true paleness of the skin is positively correlated with the relative thickness and perfusion of blood vessels underneath the skin, as well as the oxygen content of the blood. True paleness is not correlated with the amount of melanin that is present. Blood inside of the blood vessels reflects light through the skin differently when it is different colors. Blood in the body that is rich in oxygen concentration is bright red, and blood in the body that is poor in oxygen concentration is dark maroon. Light reflects off bright red blood through the skin as a healthy pink, while it reflects off dark maroon blood as pale grey. The paleness in Diamond-Blackfan anemia occurs because of the low oxygen content and the dark color of the blood.

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Iconic Physical Effects

Diamond-Blackfan anemia patients may be of shorter height than others of the same age. An affected individual may exhibit a cleft palate, where the roof of the mouth has an abnormal opening or gap. Diamond-Blackfan anemia can cause a patient to develop osteopenia, which is low bone density. Individuals who have Diamond-Blackfan anemia may also have abnormally formed thumbs. Other physical effects of Diamond-Blackfan anemia include a smaller than normal head, a flat nose, wide eyes, low and small ears, webbed and short neck, smaller than normal shoulder blades, and cleft lip. It is not uncommon to find defects in the heart structure or function in affected individuals. Problems with the function and structure of the kidneys may also manifest in individuals affected by Diamond-Blackfan anemia.

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Kidney Problems

The most prevalent kidney problems seen in individuals affected by Diamond-Blackfan syndrome are absent kidney, hypospadias, and horseshoe kidney. Absent kidney, solitary kidney, renal agenesis, and renal dysplasia are terms used to describe when an individual only has one kidney as a result of a birth defect or having had it removed due to an accident or disease. Certain genetic mutations that occur with the mutation that causes Diamond-Blackfan anemia can cause an individual to be born without one of their kidneys. Hypospadias is a condition of the urinary tract where a male is born with the urinary opening in the wrong location on the penis. Horseshoe kidney is a congenital abnormality where an individual is born with two kidneys that fused during fetal development and formed a single U shaped kidney, which resembles a horseshoe.

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Cataracts Or Glaucoma

A cataract is a condition where an individual's lens in the eye becomes clouded and causes problems with their vision. Cataracts make colors look faded, cause sunlight to feel too bright, make seeing at night difficult, produce double vision, and require frequent changes in eyewear prescriptions. Glaucoma is an umbrella term used to describe a category of eye conditions where an individual's optic nerve becomes damaged because of too much pressure accumulating in the eye. Individuals who develop glaucoma have patchy blind spots in their central or peripheral vision and experience tunnel vision frequently. Other symptoms of glaucoma include severe headache, nausea, blurred vision, vomiting, halos around lights, redness of the eye, and eye pain. The exact mechanism that causes cataracts and glaucoma to develop in Diamond-Blackfan anemia is not known, but it is thought to be related to certain genetic mutations that are associated with this form of anemia.