What Is Diamond-Blackfan Anemia?
Diamond-Blackfan anemia is an uncommon blood disease that affects the bone marrow of individuals, thereby preventing bone marrow from synthesizing a sufficient number of red blood cells. These red blood cells are responsible for carrying oxygen throughout the tissues and organs of the body.
It is a hereditary type of anemia. Certain genes undergo mutation and cause this disorder. These genetic alterations are responsible for determining the type and severity of symptoms experienced by the people. Every patient suffering from Diamond-Blackfan anemia experiences the symptoms of anemia. They may also be affected by other disorders that may affect their overall health and lifestyle. As the patients affected with Diamond-Blackfan anemia grow older, the risk of developing different forms of cancer also increases in these individuals.
Diamond-Blackfan anemia is a chronic disorder. People with this disorder require lifelong medical help and care so that healthcare professionals can treat the inherited medical condition, manage the side effects of the treatment, and monitor risks and complications effectively.
What Is the Epidemiology of Diamond-Blackfan Anemia?
It is a rare disorder. Every year, approximately four in one million children in the United States of America are affected with Diamond-Blackfan anemia.
What Is the Pathogenesis of Diamond-Blackfan Anemia?
People depend on red blood cells to transfer oxygen throughout the tissues and organs of their bodies. In Diamond-Blackfan anemia, the production of red blood cells by the bone marrow is disrupted due to the synthesis of abnormal stem cells that do not mature into healthy red blood cells.
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Most children born with this disorder are diagnosed with anemia three to four months after birth.
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Approximately 30 % of children affected with this condition do not develop fully and show growth retardation.
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Several medical conditions can also affect their overall appearance, optical vision, and health of the heart and kidneys.
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Approximately two percent and five percent of people suffering from Diamond-Blackfan anemia may develop certain hematological cancers like acute myeloid leukemia or malignant conditions like colon cancer, cervical cancer, or osteogenic sarcoma (cancer of the bones).
What Causes Diamond-Blackfan Anemia?
It is an inherited condition, with approximately 46 % of people affected with this condition carrying the inherited mutated genes from one of the parents. However, it is not clear what triggers these genetic mutations in people who do not inherit the condition. Researchers have linked the condition to more than 20 genes called ribosome protein (RP) genes responsible for causing the symptoms in Diamond-Blackfan anemia patients.
What Are the Symptoms of Diamond-Blackfan Anemia?
The most common clinical features include anemia symptoms, including:
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Tiredness: The patient feels too fatigued and exhausted to carry out daily activities.
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Breathlessness: There is shortness of breath.
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Skin Pallor: The skin becomes paler than usual.
Other common clinical features include:
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Delayed Growth: Children suffering from Diamond-Blackfan anemia are usually shorter than other children of their age.
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Microcephaly: Healthcare professionals may observe small heads in children soon after birth.
Less common clinical features include:
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Skeletal differences such as missing thumbs.
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Heart diseases like atrial septal defect (a hole in the heart's chambers).
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Renal conditions: Diamond-Blackfan anemia may cause horseshoe kidneys (when two are fused or joined together).
How Diamond-Blackfan Anemia Is Diagnosed?
Healthcare professionals may suggest several tests to diagnose this condition:
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Complete Blood Count: This test helps to measure hemoglobin, the iron-containing oxygen-carrying metalloprotein in red blood cells, the quantity and size of erythrocytes, and the count of white blood cells and blood platelets.
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Reticulocyte Count: This test evaluates the immature red blood cells in the bone marrow. If the reticulocyte count is low, the bone marrow cannot produce enough healthy red blood cells to carry oxygen throughout the body.
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Bone Marrow Aspiration and Bone Biopsy: Healthcare professionals may advise these tests to obtain bone marrow samples to examine under a microscope. These tests help to identify signs of low red blood cell levels.
What Is the Treatment for Diamond-Blackfan Anemia?
Allogeneic stem cell transplantations are the only known treatment modality for Diamond-Blackfan anemia. Allogeneic stem cell transplantation allows abnormal stem cells to be replaced with healthy stem cells to boost red blood cell synthesis.
Healthcare professionals may use the following treatment modalities:
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Corticosteroid Medications: This drug will help the bone marrow to boost the production of more red blood cells.
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Blood Donation: This treatment involves blood transfusion and boosts the production of blood cell levels with donated red blood cells.
What Is the Prognosis of Diamond-Blackfan Anemia?
Diamond-Blackfan anemia makes people suffer in many ways, making it tough for healthcare professionals to predict a prognosis. Some people who suffer from this condition may have medical diseases with mild clinical symptoms that do not affect their survival rate. Other patients may have more severe conditions, such as anemia and cardiac or renal issues that could be fatal.
Conclusion:
Diamond-Blackfan disease disrupts the synthesis of red blood cells. Living with an illness that does not go away is difficult. Living with a very rare disease is the most challenging aspect of people living with this disorder. People with Diamond-Blackfan anemia may feel they are on their own. The patient should immediately seek medical help.
