Hemoglobinopathies are inherited conditions that affect the number or shape of the red blood cells in the body. These conditions can be very different from one another. Some hemoglobinopathies can cause life-threatening symptoms, while others do not cause medical problems or even signs of the condition. Mild hemoglobinopathies may require no medical treatment. However, when severe cases are left untreated, they can cause a shortage of red blood cells (anemia), organ damage or even death. Fortunately, when severe hemoglobinopathies are identified and treated early in life, affected children often can lead healthy lives.
How common are hemoglobinopathies?
“Various other hemoglobinopathies” is the name for a group of blood-related genetic conditions, which can have various causes, effects, and treatments. One in every 20,000 babies born in the United States is diagnosed with some sort of hemoglobinopathy.
Also known as
- Var Hb
- Hemoglobin disorders
- Various other hemoglobinopathies
Your baby’s doctor may ask you if your baby is showing any of the signs of a hemoglobinopathy (see Early Signs below). If your baby has certain signs, your baby’s doctor may need to treat him or her immediately.
If your baby’s newborn screening result for a hemoglobinopathy was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your baby to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. However, a few babies do have the condition, so it is very important that you go to your follow-up appointment for a confirmatory test. Because signs of severe hemoglobinopathies can develop shortly after birth, follow-up testing must be conducted as soon as possible to determine whether or not your baby has the condition.
Follow-up testing will involve testing a blood sample. If your child has a hemoglobinopathy, he or she may have abnormally-shaped red blood cells and/or anemia, which is a low number of red blood cells. Measuring the number of red blood cells in a sample and looking at the shape of these cells can help doctors determine if your baby has a condition. Clinical genetic testing for various hemoglobinopathies may be necessary to confirm the diagnosis.
The severity of conditions classified as “various other hemoglobinopathies” varies. Some children experience severe signs while others have no signs of the condition at all.
Signs of severe hemoglobinopathies usually start soon after birth. In some cases, signs may not appear until childhood.
Early signs of a hemoglobinopathy include:
- Sleeping longer or more often
- Shortness of breath
- Pain or swelling in the hands or feet
- Cold hands or feet
- Pale skin
If your baby shows any of these signs, be sure to contact your baby’s doctor immediately.
Dehydration occurs when an individual does not have enough fluid in his or her body. Babies with hemoglobinopathies need to make sure they get plenty of fluids because dehydration can increase the pain associated with these disorders.
Children with hemoglobinopathies may need pain medication. Pain associated with hemoglobinopathies can usually be managed through over-the-counter painkillers like Tylenol. If it continues or becomes severe, your baby’s doctor may prescribe stronger medicines.
If your baby has a hemoglobinopathy, he or she may develop repeated infections, especially during childhood. Your baby’s doctor may prescribe a daily dose of antibiotics to help prevent these infections.
Some children with hemoglobinopathies may need a blood transfusion because they do not have enough healthy red blood cells. In this procedure, blood from a healthy individual is given to someone with a hemoglobinopathy.
Treatments can help relieve the signs and symptoms and treat the complications of a hemoglobinopathy.
There is currently no cure for hemoglobinopathies. Children who receive treatment may still experience some of the signs mentioned in Early Signs.
It is important to screen for and treat hemoglobinopathies because, if left untreated, babies with a severe form of the condition can die within their first year of life.
Every cell of the human body needs oxygen. One job of our blood is to bring the oxygen we breathe from our lungs to different parts of our bodies. Round, donut-shaped red blood cells carry the oxygen in the blood and can move easily through our blood vessels.
Babies with hemoglobinopathies do not make enough healthy red blood cells. If your baby has a hemoglobinopathy, his or her body makes some red blood cells that are crescent or sickle shape rather than a round, donut shape. These unusually shaped cells do not last as long as normal red blood cells. This can lead to anemia (a low number of red blood cells).
The sickle or crescent shaped cells also tend to get stuck in blood vessels. When this happens, some parts of the body may not get enough blood. If red blood cells are not able to move through the blood vessels, parts of the body cannot get enough oxygen. This can cause many of the signs mentioned in Early Signs.
Hemoglobinopathies are autosomal recessive genetic conditions. This means that a child must inherit two copies of the non-working gene for a hemoglobinopathy, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition. While having a child with a hemoglobinopathy is rare, when both parents are carriers, they can have more than one child with the condition. Learn more about autosomal recessive inheritance.
Support for Hemoglobinopathies
Support groups can help connect families who have a child or other family member affected with a hemoglobinopathy with a supportive community of people who have experience and expertise in living with the condition. These organizations offer resources for families, affected individuals, health care providers, and advocates.
Work with your baby’s doctor to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a physician who specializes in blood conditions (hematology) or other medical resources in your community.
Because hemoglobinopathies are genetic conditions, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for hemoglobinopathies, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral. The Clinic Services Search Engine offered by the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives and the Find a Genetic Counselor tool on the National Society of Genetic Counselors (NSGC) website are two good resources for you or your baby's health care provider to use to identify local specialists.