Learning that your child has a serious condition like Diamond-Blackfan anemia can be one of the most difficult challenges any parent can face. There can be a lot of questions, anxieties, and stress that come from the need to coordinate and determine the best course of action. Fortunately, there are effective treatment options that can make this diagnosis manageable on a long-term basis.
One of the best things any caregiver or parent can do is learn as much as possible to be able to make informed and confident decisions. We’re sharing this informative overview to help you be educated and engaged in your family’s treatment journey.
What is Diamond-Blackfan anemia?
Diamond-Blackfan anemia (DBA) is a very rare blood disorder that contributes to a deficiency in red blood cell creation by the bone marrow. Bone marrow is the spongy tissue inside of the bones that contains stem cells which are responsible for creating other types of cells, including red blood cells. Red blood cells are responsible for carrying oxygen throughout the body to vital organs.
Like other forms of anemia, Diamond-Blackfan anemia causes serious symptoms and complications as a result of insufficient oxygen in the bloodstream. This is typically a chronic, lifelong condition that requires ongoing care and treatment and increases the risk of related serious medical conditions, including cancer and heart disease.
Diamond-Blackfan Anemia Causes and Genetic Inheritance
Diamond-Blackfan anemia is a genetic disorder where certain ribosome protein genes cause mutations that disrupt red blood cell production in bone marrow stem cells. This is a very rare condition that only affects about four babies for every million born.
In about 45% of all cases of Diamond-Blackfan anemia, the genetic mutations are inherited from a parent with the same condition. This essentially means that there is a 50% chance that a parent will pass Diamond-Blackfan anemia to a child if they have been diagnosed.
In other cases, the condition appears to be the result of a spontaneous genetic mutation that occurs during development in the womb. Medical researchers have still not discovered a specific cause in these situations.
Diamond-Blackfan Anemia Symptoms
Symptoms of Diamond-Blackfan anemia can vary depending on the severity of mutations and deficiency of red blood cells. Symptoms can include:
- Anemia symptoms, including fatigue, breathing problems, and pale skin
- Delays in growth and development, including short stature
- Microcephaly, or a much smaller than normal head size
- Organ dysfunction, including heart defects and horseshoe kidney
- Distinctive features, including wide-set eyes, low-set ears, cleft lip, and missing or malformed thumbs
On a long-term basis, Diamond-Blackfan anemia can increase the risk of developing serious and life-threatening medical conditions, including cancer, heart disease, and kidney disease.
How Doctors Diagnose Diamond-Blackfan Anemia
If a baby is believed to have Diamond-Blackfan anemia, or be at risk for the condition, doctors can perform a series of tests soon after birth to confirm the diagnosis. These include:
- Complete blood count, or CBC, to measure characteristics of the blood, including red blood cell size and count, as well as oxygen capacity
- Bone marrow biopsy and aspiration, to measure signs of low blood cell production
- Count of the immature blood cells in bone marrow, called reticulocyte count
Diamond-Blackfan Anemia Treatment
After diagnosis, doctors will usually create a treatment plan to increase the concentration of red blood cells in the body to improve the symptoms of Diamond-Blackfan anemia. Common treatments include:
- Transfusing blood with red blood cell-rich donor blood
- Corticosteroid medication to encourage red blood cell production in bone marrow
- A new form of treatment, called allogeneic stem cell transplant, can help replace abnormal stem cells with healthy red blood cell-producing stem cells
Patients undergoing treatment for Diamond-Blackfan Anemia typically require ongoing monitoring for side effects and complications, including increased infection risk, iron overload, and high blood pressure.
Caring for a Child with Diamond Blackfan Anemia
Infants and children with Diamond-Blackfan anemia have considerable care needs. This includes regular medication, frequent appointments and transfusion treatments, specialized feeding and dietary considerations, help with reaching developmental milestones, and counseling for behavioral and emotional concerns.
To help with balancing these important care requirements along with the normal busy schedules so many families face, home health services can be an essential resource. An experienced and compassionate home health professional can work with your family to get the care and attention your little one needs to grow and thrive.
From administering medications and accompanying your child to appointments, to helping with everyday nutrition and activities, pediatric home health services can become a natural extension of your household.
Contact Care Options for Kids for Home Health Care in Florida
It can be hard to balance your time between work, home, and caring for a child. That’s why our team of skilled professionals at Care Options for Kids is here to help. We have been enforcing precautionary measures and following the Centers for Disease Control (CDC) guidelines for COVID-19, to ensure the safety and health of our clients and employees.
Our home health care services offer one on one care support in the comfort of your home. We refer loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.
If you or a loved one are considering Pediatric Home Health Care Services in Florida, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.
