Disorder Name: Alpha Thalassemia
Acronym: α thal
- What is alpha thalassemia?
- What causes alpha thalassemia?
- What are the symptoms of alpha thalassemia?
- What is the treatment for alpha thalassemia?
- What causes the decreased production of alpha globin?
- How is alpha thalassemia inherited?
- Is genetic testing available?
- What other testing is available?
- Can you test during a future pregnancy?
- Can other members of the family have alpha thalassemia or be carriers?
- Can other family members be tested?
- How many people have alpha thalassemia?
- Does alpha thalassemia happen more often in a certain ethnic group?
- Does alpha thalassemia go by any other names?
- Where can I find more information?
This fact sheet has general information about alpha thalassemia. Every child is different and some of this information may not apply to your child specifically. Certain treatments may be recommended for some children but not others. If you have specific questions about alpha thalassemia and available treatments, you should contact your doctor.
WHAT IS ALPHA THALASSEMIA?
Alpha thalassemia is an inheritedAcquiring a trait from one’s parents. Most traits, such as eye color or hair color, are inherited from a parent through genes. blood disorder. People with alpha thalassemia have a low number of red blood cells and red blood cellsRed blood cells are the major component in blood that delivers oxygen from the lungs to the body tissues. that are smaller than normal. Normal red blood cellsThe smallest living unit. Cells make up all organs and tissues in multi-cellular organisms, like humans. They can also live independently, as in bacteria and other microorganisms. At a minimum, a cell is surrounded by a membrane, contains DNA at some stage in its life, and is able to replicate itself into two equal parts. have a component called hemoglobin that carries oxygen to the body’s tissues. Some people with alpha thalassemia experience anemiaThis is a condition in which the blood has too few red blood cells or too little hemoglobin, the oxygen carrying molecule in the blood. People with anemia are often pale, tired, weak, dizzy and short of breath., or low levels of hemoglobinHemoglobin is the protein in red blood cells that carries oxygen from the lungs throughout the body. In each red blood cell, there are hundreds of hemoglobin molecules. Hemoglobin molecules are made of two subunits, alpha and beta. Both the alpha and beta subunits are needed for hemoglobin to function correctly. When there is a change in the way hemoglobin is made, the red blood cells cannot deliver oxygen as efficiently.. Taking iron supplements to treat the anemia caused by alpha thalassemia will not improve symptoms and is discouraged.
There are several types of alpha thalassemia. Ranging from mild to severe, the types of alpha thalassemia are:
- Silent carrierA person who has one copy of a gene mutation for a particular autosomal recessive disorder (remember genes come in pairs). Carriers are not affected by the disorder. However, they can pass on the gene variant to their children. Children who inherit two such gene variants will be affected by the disorder. The term variants is now used in place of the term mutation.
- Alpha thalassemia trait
- Hemoglobin H
- Alpha thalassemia major
People with all types of alpha thalassemia can pass it on to their children. Additionally, parents with a mild form of alpha thalassemia can have a child with a severe form. It is important to find out which type of alpha thalassemia your child has and talk with your doctor about what that might mean for your other children and future pregnancies.
WHAT CAUSES ALPHA THALASSEMIA?
The thalassemias are a group of inherited conditions caused by decreased production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen from the lungs to the rest of the body. Hemoglobin is made up of two components, called alpha globin and beta globin. Both of these components are needed for hemoglobin to do its job efficiently. When a person does not produce enough alpha globin, they have alpha thalassemia. Having too little alpha globin makes the cells smaller than normal. People with the milder types of alpha thalassemia produce more alpha globin than people with the more severe types, leading to milder symptoms.
Alpha thalassemia is not contagious. You cannot get alpha thalassemia from living with, touching, or spending time with a person with alpha thalassemia. Likewise, there is no way to “cure” alpha thalassemia.
WHAT ARE THE SYMPTOMS OF ALPHA THALASSEMIA?
Each type of alpha thalassemia has different symptoms. Alpha thalassemia causes minimal effects in most people and more serious problems in others. Symptoms can be temporary or chronicAny condition that lasts for a long period of time or occurs frequently. For example, diabetes and hemochromatosis are both chronic conditions. (on-going or long-term). It is important to be educated about the symptoms so that they can be properly managed. The symptoms that a person has depends on the type of alpha thalassemia they have.
Most types of alpha thalassemia will not affect a child’s growth, development, intelligence, or ability to learn. You cannot tell that someone has alpha thalassemia by looking at them.
People with alpha thalassemia may experience varying degrees of anemia. Anemia is a very common condition that affects the red blood cells in the body. It is caused by a low number of red blood cells or by a low amount of hemoglobin. The degree of anemia in alpha thalassemia depends on the type of alpha thalassemia you have.
All people with alpha thalassemia will have a baseline level of anemia which will remain constant throughout a person’s lifetime. It is not expected to get worse or improve.
If your child has a blood test done, it will likely show that he or she has small red blood cells. The expected size of the cells depends on which type of alpha thalassemia a person has.
Even with mild anemia, children with alpha thalassemia can usually participate in sports and other physical activities.
Types of Alpha thalassemia and Anemia
Silent carrier and alpha thalassemia trait
Alpha thalassemia silent carrier and trait are not illnesses and will not make your child sick in any way. It is not expected that individuals with silent carrier and alpha thalassemia trait have fatigueFatigue is a feeling of weariness, tiredness, or lack of energy. Fatigue can be a normal and important response to physical exertion, emotional stress, or lack of sleep. However, it can also be a sign of a more serious health disorder., low energy, or lack of stamina.
Most children with hemoglobin H are generally healthy. Some may experience mild to moderate anemia. Signs of anemia include:
- Fatigue (feeling tired or weak)
- Shortness of breath
- Cold hands or feet
- Pale skin
- Chest pain
Contact your doctor if you think that your child might be experiencing signs of anemia.
Hemoglobin H will not cause a child to get sick more frequently than other children. However, illnesses may last longer or make a child more sick than other children. Also, during times of illness, they may require a blood transfusion. Some children with hemoglobin H have other complications, including gallstones and a larger than expected spleenThis is an organ located behind the stomach. It gets rid of old blood cells and helps fight infection. The spleen can enlarge in people with cirrhosis or with certain metabolic disorders.. Therefore, these children are followed more closely by their doctor. It is recommended that they see a hematologistA hematologist is a doctor who specializes in treating patients with blood disorders. Children with inherited blood conditions may have frequent check-ups with a hematologist., or blood specialist, yearly.
Alpha thalassemia major
Most babies with alpha thalassemia major do not survive until birth or are stillborn. In the rare cases of babies that do survive, they require frequent blood transfusions and medical care. Alpha thalassemia major can be detected on ultrasoundUltrasound is an imaging method that uses high-frequency sound waves to create an image of structures within a person’s body. Also see fetal ultrasound. in the second-third trimester of pregnancy. The main ultrasound finding that indicates that a baby may have alpha thalassemia major is hydrops fetalisHydrops fetalis is the accumulation of fluid in two or more body parts of a developing fetus. Hydrops fetalis can be detected on ultrasound. Developing fetuses with hydrops fetalis are at risk for serious complications., an accumulation of fluid in the baby.
WHAT IS THE TREATMENT FOR ALPHA THALASSEMIA?
The type of treatment that a child needs depends on the type of alpha thalassemia that he or she has. It is very important that the parents make sure that their family doctor knows that their child has alpha thalassemia.
IronIron is a natural element that is needed for the body to function properly. Iron can be found in many foods. Having a high amount of iron can cause damage to organs. Talk with your doctor about the risks and benefits if your child takes iron supplements or has blood transfusions. supplements will not improve anemia caused by alpha thalassemia. If your doctor thinks that your child should take iron supplements, a blood test called ferritin should first be checked. Taking unneeded iron supplements can cause damage to the body.
Silent carrier and alpha thalassemia trait
Children with mild alpha thalassemia do not require any treatment. However, they may have a chance of having a child with more severe alpha thalassemia. When your child reaches an appropriate age, it is important to let him or her know that he or she can pass alpha thalassemia on to their children.
Children with hemoglobin H should have regular medical care to detect and treat any symptoms that may occur. It is recommended that they see the hematologist yearly. Some children with hemoglobin H may need blood transfusions after a severe illness. A small number of children with hemoglobin H need frequent blood transfusions. Other rare complications may require additional treatment.
It is recommended that children with hemoglobin H take folic acid routinely.
Alpha thalassemia major
Alpha thalassemia major is a serious health condition and symptoms often develop during pregnancy in babies with this condition. Women with an unborn baby with alpha thalassemia major should discuss pregnancy management and treatment options with their doctor.
WHAT CAUSES THE DECREASED PRODUCTION OF ALPHA GLOBIN?
Genes tell the body how to make proteins. There are two genesA segment of DNA that contains the instructions to make a specific protein (or part of a protein). Genes are contained on chromosomes. Chromosomes, and the genes on those chromosomes, are passed on from parent to child. Errors in the DNA that make up a gene are called variants and can lead to diseases. – HBA1 and HBA2 – that tell the body how to make alpha globin. Everyone has two copies of HBA1 and two copies of HBA2. When one or more of these four alpha globin genes is not working properly, less alpha globin is made.
The number of non-working genes determines what type of alpha thalassemia a person has. The more working genes a person has, the more alpha globin is made and they will have a milder type of alpha thalassemia.
|Type of Alpha thalassemia||Numbers of working alpha globin genes||Numbers of non-working alpha globin genes|
|alpha thalassemia trait||2||2|
|alpha thalassemia major||0||4|
HOW IS ALPHA THALASSEMIA INHERITED?
The inheritance of alpha thalassemia is complex. A child inherits two copies of HBA1 and two copies of HBA2 genes from each of their parents. When one parent passes on one or more non-working copies of the HBA1 or HBA2 genes to a child, that child will be a silent carrier or have alpha thalassemia trait. If both parents pass on non-working copies of the alpha thalassemia genes, their child might have a more severe type of alpha thalassemia. The type of alpha thalassemia that a baby could have depends on the combination of the four gene copies.
Some parents do not realize that they have alpha thalassemia until their child is diagnosed.
GeneticRelating to (or due to) genes and heredity or the field of studying genes and heredity. counseling is available to families who have children with alpha thalassemia. Genetic counselors can answer your questions about how alpha thalassemia is inherited, types of alpha thalassemia that parents could have, and how to test other family members. Ask your doctor about a referral to a genetic counselorThese are health care providers who have special training in genetic conditions. They help families understand genetic disorders and how they are passed down. Genetic counselors offer information and support to people who have genetic conditions in their families or are concerned that they may have a child with an inherited disorder..
IS GENETIC TESTING AVAILABLE?
Genetic testing for alpha thalassemia can be done on a blood sample. Genetic testing, also called DNA testing, looks for variantsA variant is a change or alteration in a person’s DNA sequence. Variants can happen in genes and affect how the gene functions. There are different types of variants – they can be non-problem causing (benign), disease-causing (pathogenic) or of unknown significance. The term variants is now used in place of the term mutation. or changes in the HBA1 and HBA2 genes that cause them to be non-working. Genetic testing is the only test that can determine specifically what type of alpha thalassemia a person has. Couples who want to find out what type of alpha thalassemia their children are at risk for, may choose to have genetic testing. If you are interested in genetic testing, talk to your doctor about a referral for genetic counselingGenetic counseling gives patients and their families’ education and information about genetic-related conditions. It can help families make informed decisions. It is often provided by Genetic counselors or Medical geneticists who have special training in inherited disorders..
WHAT OTHER TESTING IS AVAILABLE?
Newborn ScreeningA screening test that looks for different disorders using a small sample of blood taken from a newborn’s heel. A positive or abnormal newborn screening result means that there are slight differences that were found in the baby’s blood, and further testing is needed to figure out if the baby has a metabolic disorder.
Newborn screening for alpha thalassemia is done in all states. A blood spot from a prick on a baby’s heel is used to screen for a number of different genetic conditions. Babies with any type of alpha thalassemia can be detected on the newborn screen. However, the newborn screen does not determine what type of alpha thalassemia a baby has. Additional testing is needed to determine the type of alpha thalassemia a baby may have.
Your doctor may recommend that your child have a blood test around one year of age to screen for additional common blood disorders.
CAN YOU TEST DURING A FUTURE PREGNANCY?
DNADeoxyribonucleic acid (DNA) is a molecule found in the chromosomes that carries genetic information. DNA is composed of four units (called bases) that are designated A, T, G, and C. The sequence of the bases spell out instructions for making all of the proteins needed by an organism. A gene is a section of DNA that holds the instructions for a specific protein. A change in one or more of the DNA bases making up a gene is called a mutation. Some mutations change the protein instructions and can lead to particular health problems or disorders. Each parent passes half of their chromosomes, and thus half of their DNA instructions, onto their children. It is these instructions that cause certain traits, such as eye or hair color, to be inherited. testing can be done in future pregnancies. The sample needed for this test is obtained by either CVS or amniocentesisThis is a test done during pregnancy. A needle is used to remove a small sample of fluid from the sac around the fetus. The sample can be used to test for certain genetic disorders in the fetus. Amniocentesis to test for genetic conditions is usually done between 13 and 20 weeks of pregnancy.. Parents may choose to have testing during pregnancy or wait until birth to have the baby tested. Alpha thalassemia major can often be detected by ultrasound. Parents may also choose to use assisted reproductive techniques to decrease the chance that their future children would have the more serious forms of alpha thalassemia. A genetic counselor can talk to you about your choices and answer questions about prenatal testing or testing your baby after birth.
Women carrying a baby with alpha thalassemia major may wish to discuss possible treatment options with their doctor. While alpha thalassemia major is an extremely serious condition, treatment and survival may be possible with blood transfusions to the baby during pregnancy, followed by lifelong blood transfusions and other medical care.
CAN OTHER MEMBERS OF THE FAMILY HAVE ALPHA THALASSEMIA OR BE CARRIERS?
The brothers and sisters of a child with alpha thalassemia may also have alpha thalassemia, even if a parent has not noticed any symptoms. Talk to your doctor or genetic counselor about testing your other children for alpha thalassemia.
If you are a parent of a child with alpha thalassemia, your brothers and sisters have a chance to have alpha thalassemia. It is important to talk to other family members about their risk of having alpha thalassemia.
CAN OTHER FAMILY MEMBERS BE TESTED?
Other family members can have DNA testing to determine if they have alpha thalassemia. Family members who are interested in testing should talk to their doctor.
HOW MANY PEOPLE HAVE ALPHA THALASSEMIA?
Alpha thalassemia is one of the most common genetic conditions. Because it can be very mild, the number of people who have alpha thalassemia is unknown.
DOES ALPHA THALASSEMIA HAPPEN MORE OFTEN IN A CERTAIN ETHNIC GROUP?
Alpha thalassemia occurs most often in people of Southeast Asian, Mediterranean, North African, Middle Eastern, Indian, and Central Asian ancestry. However, a person of any ethnic background can have alpha thalassemia.
DOES ALPHA THALASSEMIA GO BY ANY OTHER NAMES?
Another name for alpha thalassemia trait is alpha thalassemia minor.
Hemoglobin H may also be called Hemoglobin H Disease.
Some people may call alpha thalassemia “low blood.”
Alpha thalassemia is NOT the same as beta thalassemia. They are two completely different conditions. Information about beta thalassemia does not apply to alpha thalassemia.
|Type of alpha thalassemia||Alternate name|
(one non-working gene)
|Alpha thalassemia minima|
|Alpha thalassemia trait
(two non-working genes)
|Alpha thalassemia minor
Alpha thalassemia trait carrier
(three non-working genes)
|Hemoglobin H disease|
|Alpha thalassemia major
(four non-working genes)
Hb Bart disease
Hb Bart hydrops fetalis
WHERE CAN I FIND MORE INFORMATION?
Cooley’s Anemia Foundation
|Reviewed by:||HI genetics and hematology specialists|
|Review date:||November 30, 2012
June 15, 2020
March 16, 2023
|Update on:||March 16, 2023|
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