Hemoglobinopathy: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Hemoglobinopathy?
A hematologist, a doctor who treats blood diseases, usually leads care for a hemoglobinopathy such as sickle cell disease or thalassemia. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is hemoglobinopathy?
Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. A hemoglobinopathy is an inherited disorder of hemoglobin.
Sickle cell disease and thalassemia are two examples of hemoglobin disorders. In sickle cell disease, hemoglobin forms stiff rods inside red blood cells, and this changes the shape of the cells. In thalassemia, the body makes fewer healthy red blood cells and less hemoglobin.
Symptoms
Symptoms of sickle cell disease vary from person to person and can change over time.
- Painful swelling of the hands and feet.
- Tiredness or fussiness from anemia.
- A yellow color of the skin or the whites of the eyes, called jaundice.
- Pain crises, which are attacks of sudden, severe pain that can happen without warning.
Thalassemia can be mild or severe, and some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. People with it may have severe anemia, slowed growth, delayed puberty, and problems with the spleen, liver, heart, or bones.
Causes and who gets it
Sickle cell disease is caused by a change in a gene. The gene has instructions for making one part of hemoglobin. People with sickle cell disease are born with two sickle cell genes, one from each parent. A person with one sickle cell gene has sickle cell trait. People with sickle cell trait are generally healthy, but they can pass the gene on to their children.
In the United States, most people with sickle cell disease are African American. About 1 in 365 Black or African American babies are born with sickle cell disease. Thalassemia occurs most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.
How doctors diagnose it
A blood test can show if you have sickle cell disease or sickle cell trait. Genetic tests can tell if you have one or two copies of the sickle cell gene. Doctors diagnose thalassemias using blood tests.
All states now test newborns for sickle cell disease as part of their screening programs.
Treatment
For sickle cell disease, your medical team will probably include a hematologist. Follow your doctor's instructions about all medicines. Options for sickle cell disease include the following.
- Hydroxyurea is a medicine that reduces sickling of red blood cells. It can help prevent serious symptoms. It is not safe during pregnancy.
- Blood transfusions for severe anemia.
- A bone marrow or stem cell transplant can cure sickle cell disease. It is risky and can have serious side effects. So it is usually used only in children with severe disease.
- Gene therapies for people who are 12 and older and have had repeated sickle cell crises.
People with sickle cell disease can stay as healthy as possible with regular medical care and routine vaccinations. Treatments for thalassemia include blood transfusions and treatment to remove extra iron from the body. People with mild symptoms or no symptoms may not need treatment. Some severe cases may need a bone marrow transplant.
When to see a doctor
A pain crisis can happen without warning, and you might need to go to the hospital for treatment. If you have sickle cell disease and a fever above 101.3 degrees Fahrenheit (38.5 degrees Celsius), get medical care and antibiotics right away. An erection that lasts 4 hours or more is also an emergency that needs hospital care.
Call 911 or go to the emergency room if you have trouble breathing, chest pain or discomfort lasting two minutes or more, fainting or loss of consciousness, a sudden change in mental state such as confusion, or sudden weakness, numbness on one side of the body, or trouble speaking.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can do an evaluation, help you keep up with regular medical care and routine vaccinations, and coordinate your care with a hematologist.
Common questions
Is hemoglobinopathy the same as sickle cell disease?
No, sickle cell disease is only one kind of hemoglobinopathy. Thalassemia is another inherited hemoglobin disorder.
Can a hemoglobinopathy be cured?
It depends on the type. A bone marrow or stem cell transplant can cure sickle cell disease. It is risky. So it is usually used only in children with severe disease.
Is sickle cell trait the same as sickle cell disease?
No, they are different. A person with sickle cell trait has one sickle cell gene, and a person with the disease has two.
Can sickle cell disease be found before birth?
Yes, it can. Providers can diagnose sickle cell disease before a baby is born by testing amniotic fluid or tissue from the placenta.
Sources
- MedlinePlus - Sickle Cell Disease
- National Heart, Lung, and Blood Institute - Sickle Cell Disease Symptoms
- MedlinePlus - Thalassemia
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
