General Condition Information
Other Names
- Hb disease (C, D, E)
- Hemoglobin C, D, and E disorders
- Hemoglobin point mutation testing detects hemoglobin D, E, and O
- Hemoglobinopathies
- Hemoglobinopathies (various other)
- Other Hb variant including genetic trait
- Other hemoglobin variants
- Other hemoglobinopathies
- Other Variant hemoglobinopathies
- Variant Hb-pathies
- Variant hemoglobinopathies
- Variant Hgb
- Various hemoglobinopathies
Condition Type
Birth Prevalence
- There are hemoglobinopathies found by newborn screening that are not S,S Disease; S, Beta-thalassemia; or S,C Disease. It is unknown how many babies are born with these less-well-known conditions each year in the United States.
Screening Finding
What is various other hemoglobinopathies
Hemoglobinopathies are a group of inherited (genetic) conditions that affect the hemoglobin in blood. Hemoglobin is a part of your red blood cells, which carry oxygen in your body.
There are different types of hemoglobinopathies. These types can be more or less severe depending on the amount of normal hemoglobin in your baby’s blood. The more working hemoglobin that your baby has, the less severe their condition will be.
Babies with hemoglobinopathies have less normal hemoglobin, which means they have fewer normal round-shaped red blood cells. Abnormal hemoglobin has some red blood cells shaped like a crescent moon. This crescent, or sickle, shape causes the red blood cells to break down and get stuck in the blood vessels. This causes the signs and symptoms of these conditions.
Hemoglobinopathies include S,S Disease; S, Beta-thalassemia; or S,C Disease. However, there are also other ways that hemoglobin can become abnormal. “Various other hemoglobinopathies” describes these other hemoglobin-related conditions.
Newborn Screening and Follow-Up
Newborn screening for hemoglobinopathies is done using a small amount of blood collected from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page.
During screening, a special machine identifies different types of hemoglobin in your baby’s blood. Babies with different types of hemoglobins might have one of these hemoglobinopathies.
If your baby’s blood spot screening result for hemoglobinopathies is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans.
An out-of-range screening result usually means that your baby has the condition and that your baby needs more follow-up testing. To learn more about screening results, visit the Blood Spot Screening Results page.
Your baby may need the following tests after an out-of-range screening result:
- Blood tests
- Genetic testing using a blood sample
You should complete any recommended follow-up testing as soon as possible. Babies with some of these conditions can have serious health problems soon after birth if they are not diagnosed and treated quickly.
False-positive newborn screening results for this condition are rare. However, screening samples collected after a baby receives red blood cells from someone else (a red cell transfusion) will be inaccurate.
Condition Details
Newborn screening helps babies lead healthier lives. If your baby has an out-of-range result, follow up with your health care provider quickly. It is important to follow their instructions. Your baby may need to get treatment right away, even if they are not showing signs or symptoms. In some cases, your baby’s health care provider may decide it is best to watch (monitor) your baby to decide next steps. Careful monitoring and early treatment will help your baby stay as healthy as possible.
Signs of a severe condition generally appear soon after birth. Some children may not have any signs of their condition. The severity and number of symptoms will depend on the type of variant hemoglobins seen.
Many children may not have symptoms until they become very sick. It is important to see a doctor and start treatment quickly.
Signs of the condition may include the following:
- Serious infections
- Large spleen (usually found during a health care provider visit)
- Pain or painful swelling in hands or feet
- Difficulty breathing
These conditions are caused by changes in the HBB gene. This gene gives the body instructions for making beta-globin, a protein found in hemoglobin.
Some changes can result in some red blood cells that are crescent or sickle shapes instead of doughnut shapes. Other changes can result in fewer red blood cells being made, very small red blood cells, or red blood cells that do not contain enough hemoglobin.
A hemoglobinopathy is a genetic condition. Babies inherit it from their biological (birth) parents. To learn more about genetic conditions, visit MedlinePlus Genetics.
- A hemoglobinopathy is an autosomal recessive condition. Babies inherit the condition when each parent passes down a nonworking HBB gene to their baby. Only babies with two nonworking HBB genes—one from the mom and one from the dad—have this condition.
- People with a normal copy and one nonworking copy of the HBB gene have a hemoglobin trait (sometimes also called being a carrier).
- People with a hemoglobin trait do not have or develop the condition. However, they may pass down a nonworking copy of the gene to their children.
- If two parents carry a nonworking copy of the HBB gene, they have a 1 in 4 chance of having a child with a hemoglobinopathy.
- People with a hemoglobin trait often do not know they are carriers before having a child with the condition. In most cases, families have no history of the condition until the birth of a child with a hemoglobinopathy.
- Parents who already have a child with a hemoglobinopathy still have a 1 in 4 chance of having another child with a hemoglobinopathy. This 1 in 4 chance stays the same for all future children.
- Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it. Visit the National Society of Genetic Counselors to find a genetic counselor and the American College of Medical Genetics and Genomics to find a medical geneticist.
Treatment and Management
It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.
Treatments may include the following:
- Daily dose of antibiotics to prevent repeated infections
- Medications (analgesics) to treat pain
- Blood transfusions in special circumstances
Children who receive early health care and treatment for their hemoglobinopathy can have better healthier lives than those who do not receive treatment.
Community-based organizations (CBOs) are local agencies that provide services, education, and support to families affected by hemoglobinopathies. To find a CBO near you, please visit the Sickle Cell Disease Association of America’s list of member organizations.