Congenital Hypoplastic Anemia
What is Congenital Hypoplastic Anemia ?
Congenital hypoplastic anemia (CHA) is a rare, inherited blood disorder in which the bone marrow produces very few, or no, red blood cells (RBCs). This means that the body is not getting enough oxygen, resulting in symptoms of fatigue, pale complexion, shortness of breath, and an increased heart rate. People with CHA may also experience headaches, cold hands and feet, and dizziness.
CHA is usually diagnosed in childhood but can manifest at any age and is passed from parent to child. It is believed to be the result of a genetic mutation. Some inherited forms of CHA can be treated with medication, while others require blood transfusions or a stem cell transplant. In some cases, CHA can be managed through lifestyle changes, such as dietary adjustments or avoiding activities that might worsen symptoms.
Symptoms of Congenital Hypoplastic Anemia
The most common symptoms of CHA are fatigue, paleness, and an increased heart rate, all of which can be severe and progressive. Other symptoms may include:
- headaches
- shortness of breath
- dizziness
- cold hands and feet
- irregular heartbeat
- joint pain
- nausea
- loss of appetite
- slow growth
- enlarged spleen
Diagnosis of Congenital Hypoplatic Anemia
CHA is usually diagnosed after a physical exam, a review of the patient's medical history, a blood test to determine the number of red blood cells in circulation, and sometimes a bone marrow biopsy. If the patient has a family history of CHA, genetic testing may also be done to identify any gene mutations.
A diagnosis of CHA is typically made in early childhood, so it is important for parents to watch for signs and symptoms and discuss any concerns with their doctor.
Treatment of Congenital Hypoplastic Anemia
Treatment of CHA depends on the severity of the condition and the patient's individual needs. Some inherited forms of CHA can be managed with medication. Others may require regular blood transfusions and/or a stem cell transplant to replace the bone marrow.
In some cases, CHA can be managed with lifestyle changes, such as dietary adjustments or avoiding activities that might worsen symptoms. Physical and occupational therapy may also be helpful in managing symptoms and improving quality of life.