Alpha Thalassemia Treatment

Alpha thalassemia symptoms

Symptoms of alpha thalassemia happen because the body does not make enough hemoglobin to carry oxygen in the blood. How severe the symptoms are depends on the type of alpha thalassemia a person has and the severity of the disorder.

• No symptoms: Silent carriers of alpha thalassemia often do not have symptoms. The body’s hemoglobin works normally because the lack of alpha globin protein is minor.
• Mild anemia: People with alpha thalassemia trait may have no signs or symptoms, but mild microcytic (small cells) anemia is common. This can look like mild iron-deficiency anemia or a person may have moderate anemia during pregnancy.
• Moderate anemia and other health problems: People with more advanced forms of alpha thalassemia (hemoglobin H disease) will usually have moderate anemia from birth. They may have minimal symptoms, but other possible health issues can include:
  • Pale skin
  • Lack energy
  • Dark urine
  • Slowed growth
  • Delayed puberty
  • Yellowish skin or whites of the eyes (jaundice)
  • Enlarged heart, liver, or spleen
  • Bone problems
• Severe anemia in an unborn baby: This is called hydrops fetalis. In this condition, anemia in an unborn baby causes fluid to build up before birth, resulting in severe swelling. Hydrops fetalis must be diagnosed before birth. The baby usually does not survive. But sometimes the baby can get a blood transfusion before birth and survive.

Alpha thalassemia causes

Alpha thalassemia is caused when the genes that control how the body makes hemoglobin change or are missing. The hemoglobin protein that is affected in alpha thalassemia is alpha globin.

Carriers are people who inherit hemoglobin genes that are changed or missing from 1 parent but inherit normal genes from the other parent. Carriers of alpha thalassemia usually do not have symptoms. But they can pass the affected genes on to their children. People who have moderate-to-severe forms of alpha thalassemia inherited affected hemoglobin genes from both parents.

Alpha globin is made by 4 copies of the alpha globin gene — 2 copies are on each strand of chromosome 16. Each person needs these 4 genes (2 from each parent) to make enough alpha globin for the body to make healthy hemoglobin. Different forms of alpha thalassemia occur if 1 or more of these genes are missing:

• If 1 gene is affected, a person is a silent carrier of alpha thalassemia. This person usually does not have symptoms.
• If 2 genes are affected, a person has alpha thalassemia trait. This condition is also called alpha thalassemia minor. This person may have mild anemia which can look like mild iron-deficiency anemia.
• If 3 genes are affected, a person has hemoglobin H disease. This disease can cause moderate anemia.
• If all 4 genes are affected, a person has alpha thalassemia major. You may hear this called hydrops fetalis. This is the most severe type of alpha thalassemia. The body cannot make enough healthy hemoglobin to carry oxygen as needed. An unborn baby with this disorder will usually die in the womb or soon after birth unless a blood transfusion is given before the baby is born.

Alpha thalassemia is one of the most common blood disorders in the world. Anyone can have alpha thalassemia. Thousands of infants are born with the alpha thalassemia trait or hemoglobin H disease each year. But it is most common in people of Southeast Asian and African descent.

Alpha thalassemia diagnosis

Because alpha thalassemia is inherited, family history and ancestry can help diagnose this blood disorder.

A parent with alpha globin-making genes that are changed or missing may have a child with a form of alpha thalassemia. Each child has a 25% (1 in 4) chance of inheriting 1, 2, or 3 missing genes. A baby born without all 4 genes is rare.

Tests to diagnose alpha thalassemia include:

• Complete blood count with reticulocytes and blood smear review to check the number, size, shape, color, and maturity of blood cells
• Genetic testing to look for gene changes for alpha thalassemia
• Hemoglobin electrophoresis to measure the level and types of hemoglobin in the blood

Alpha thalassemia treatment

Treatment for alpha thalassemia is based on the type and severity of the disorder.

• People who are carriers of alpha thalassemia trait usually have mild or no symptoms and need little or no treatment.
• Treatment for hemoglobin H disease varies depending on the level of hemoglobin. Many people have moderate anemia with mild symptoms. Some people may need blood transfusions.
• People with hydrops fetalis need transfusions throughout their lives and may have severe health problems.

Several treatments are used for moderate and severe forms of alpha thalassemia.

Blood transfusions

Blood transfusions are the main treatment for people with severe alpha thalassemia. This treatment provides healthy red blood cells with normal hemoglobin. Because red blood cells only live about 3 months, repeated transfusions may be needed to maintain a healthy supply of red blood cells.

People with hemoglobin H disease may need blood transfusions at certain times, such as during an infection, illness, or if symptoms of anemia occur.

Blood transfusions are a lifesaving treatment. They can help people with alpha thalassemia feel better, live longer, and have a better quality of life. But transfusions increase the risk of transmitted infections and viruses, such as hepatitis. Careful blood screening occurs in the United States, which makes this risk much lower.

Iron chelation therapy

Iron chelation therapy removes excess iron from the body. Excess iron is often caused by repeated blood transfusions, which are a treatment for severe alpha thalassemia. A buildup of iron in the blood (iron overload) can damage the heart, liver, and other parts of the body.

Medicines used for chelation therapy include:

• Deferoxamine is a liquid medicine given slowly under the skin, usually overnight. It is given 5–6 nights a week, with a small, portable pump. This treatment takes time and can be mildly painful. Side effects may include problems with hearing and vision.
• Deferasirox is a medicine taken by mouth once a day. Side effects may include nausea, vomiting, diarrhea, and liver inflammation.
• Deferiprone is a medicine taken by mouth 2 to 3 times a day. Side effects may include a low white count (neutropenia).

Stem cell (bone marrow) transplant

A stem cell (bone marrow) transplant replaces the patient’s stem cells with healthy ones from a donor. Stem cells are the cells inside bone marrow that become red blood cells and other types of blood cells. A stem cell transplant is the only treatment that can cure alpha thalassemia, but the procedure has some risks. Only a small number of people with severe alpha thalassemia can be matched well with a donor. This treatment is rarely used for alpha thalassemia.

New and future treatments

Researchers are working to find new treatments for alpha thalassemia.

• Gene therapy makes it possible for doctors to insert a normal hemoglobin gene into stem cells in bone marrow. This could allow people with alpha thalassemia to make their own healthy hemoglobin and red blood cells.
• Scientists are studying ways to trigger the body’s ability to make fetal hemoglobin after birth. The body switches to making adult hemoglobin when a baby is born. Making more fetal hemoglobin might help replace the lack of healthy adult hemoglobin in people with alpha thalassemia.

Alpha thalassemia prognosis

Severe thalassemia (transfusion dependent thalassemia) can cause heart failure and death. Regular blood transfusions and iron chelation therapy or a successful stem cell transplant may improve the chance of survival.

Less severe forms of alpha thalassemia (silent carrier or alpha thalassemia trait) usually do not shorten a person’s lifespan.

Genetic counseling and prenatal screening may help people with a family history of alpha thalassemia that plan to have children.

Alpha thalassemia care at St. Jude

St. Jude provides the highest quality of care for patients with alpha thalassemia:

• St. Jude offers children with blood disorders exceptional care. We provide support to help with physical, emotional, psychological, educational, and other challenges while managing your child’s blood disorder.
• Our medical teams work closely with laboratory scientists. Their work brings new treatments from the lab to the clinic.
• St. Jude doctors and scientists are engaged in the latest research to study new therapies. St. Jude patients who qualify may take part in these studies. By performing these studies, we hope to better understand and treat blood disorders.

More reasons to choose St. Jude for care include:

• At St. Jude, we have created an environment where children can be children and families can be together.
• The nurse-to-patient ratio at St. Jude is about 1:3 in hematology and oncology and 1:1 in the Intensive Care Unit.

Alpha thalassemia clinical trials