Hereditary Persistence of Fetal Hemoglobin

What is hereditary persistence of fetal hemoglobin? 

Hereditary persistence of fetal hemoglobin (HPFH) is a rare condition that happens when red blood cells have more fetal hemoglobin than normal. “Hereditary” means that the condition is inherited or passed down from parent to child through genes.

Symptoms of hereditary persistence of fetal hemoglobin

HPFH often does not cause any symptoms, so most people do not know they have it. But if someone has HPFH along with another blood disorder, HPFH might change how that condition affects them. For example, HPFH can sometimes lessen the symptoms of sickle cell disease or beta thalassemia.

Causes of hereditary persistence of fetal hemoglobin

The gene for HPFH is passed down from parent to child just like hair color and eye color.

HPFH is rare. About 1 in 1,000 African Americans have the gene for the HPFH trait. This means they are a carrier of the condition. About 1 in 12 African Americans have sickle cell trait. 

Diagnosis of hereditary persistence of fetal hemoglobin

HPFH can be diagnosed by looking at the levels of different types of hemoglobin in the blood. If hemoglobin F levels stay unusually high beyond infancy, it can indicate HPFH. Testing is usually more accurate when children are older.

Genetic testing may be done to confirm HPFH. Other rare conditions can sometimes cause high hemoglobin F levels.

Hemoglobin S/HPFH

A few people inherit a gene for sickle cell trait (hemoglobin S or HbS) from 1 parent and a gene for HPFH from the other. This causes a condition called hemoglobin S/HPFH (HbS/HPFH). It looks like sickle cell anemia on lab testing at birth. Sickle cell anemia is a type of sickle cell disease. It is also known as hemoglobin SS (HbSS). 

Sickle cell disease can be diagnosed with a blood test at birth, but HPFH cannot. This is because newborn babies normally have a large amount of hemoglobin F. Special tests are usually needed at around 1 year of age to find out if a child has HbS/HPFH instead of other more serious types of sickle cell disease.

Treatment of hereditary persistence of fetal hemoglobin 

HPFH usually does not need treatment. Most people live healthy lives without any problems from the condition.

If HPFH is present with another blood disorder, treatment might focus on managing the other condition.

Prognosis for hereditary persistence of fetal hemoglobin

Having the HPFH trait is harmless to the carrier.

If your child has HbS/HPFH, they probably will not have any related health problems. Most people with HbS/HPFH do not have the same problems that people with other types of sickle cell disease have.

Some important things to know if your child has HbS/HPFH include:

• Be sure your child gets all recommended vaccines to help protect against infection.
• If your child has HbS/HPFH, they usually do not need the extra vaccines given to children with sickle cell disease to protect against pneumococcal infection.
• Your child also does not need to take daily penicillin unless prescribed by your care team to treat an infection.
• If your child has a fever, contact your child’s care team.
• Follow up with your child’s hematologist each year or as recommended.

Questions to ask your care team

• What does HPFH mean for my child's health?
• How can HPFH affect other conditions like sickle cell disease or beta thalassemia?
• Should other family members get tested for HPFH?
• Will my child need regular check-ups or tests because of HPFH?

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