What gene mutation causes alpha thalassemia?

Alpha thalassemia is caused by alterations (mutations) in two adjacent genes, the HBA1 and the HBA2 genes. Every person has two copies of the HBA1 gene (one from each parent) and two copies of the HBA2 gene (also one from each parent).

Does alpha thalassemia trait affect pregnancy?

When the baby has alpha thalassemia major, there are also risks for the pregnant woman. A woman carrying a baby with alpha thalassemia disease has a higher chance for developing pre-eclampsia or “toxemia” (protein in the urine, high blood pressure, swollen ankles and feet).

Does alpha thalassemia trait affect fertility?

If both parents have the cis form of alpha thalassemia trait (αα/–), there is a 25 percent (1 in 4) chance with each pregnancy of having a child with Hydrops Fetalis (–/–).

Can a male be thalassemia carrier?

You are at risk for thalassemia if you have a family history of it. Thalassemia can affect both men and women. Certain ethnic groups are at greater risk: Alpha thalassemia most often affects people who are of Southeast Asian, Indian, Chinese, or Filipino descent.

Is Alpha thalassemia a disability?

Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness ( hypotonia ), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms.

Is Alpha thalassemia dominant or recessive?

Genetic counseling: Alpha-thalassemia is usually inherited in an autosomal recessive manner.

What happens if both partners have thalassemia?

If you have thalassemia and your partner carries the trait for thalassemia, there is a chance that your baby may inherit the disease. The stress of pregnancy can make the symptoms of thalassemia worse and cause complications such as anemia and stress on the heart.

Can thalassemia affect fertility?

Thalassemia patients undergone allogeneic HSCT have lower fertility potential, mainly in sperm parameters compared with patients treated with blood transfusion and chelation.

Is alpha thalassemia a disability?

How is the family of a person with thalassemia affected?

Both types of thalassemia are inherited in the same manner. The disease is passed to children by parents who carry the mutated thalassemia gene. A child who inherits one mutated gene is a carrier, which is sometimes called “thalassemia trait.” Most carriers lead completely normal, healthy lives.

Is Alpha thalassemia serious?

In addition to anemia and hydrops fetalis, severe cases of alpha thalassemia and hemoglobin H disease can lead to serious complications, especially if untreated. Complications of alpha thalassemia include: Excess iron.

How does alpha thalassemia affect the body?

In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body’s tissues. Affected individuals also have a shortage of red blood cells (anemia ), which can cause pale skin, weakness, fatigue, and more serious complications.

What are the symptoms of alpha thalassemia?

Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease.

What are the chances of a child with alpha thalassemia getting anemia?

A child of two carriers has a 25 percent chance of receiving two trait genes and developing the disease, and a 50 percent chance of being a thalassemia trait carrier. Most individuals with alpha thalassemia have milder forms of the disease, with varying degrees of anemia.

How many types of thalassemia are there?

There are 2 main types of thalassemia: alpha and beta. Different genes are affected for each type. Thalassemia can cause mild or severe anemia. Anemia occurs when your body does not have enough red blood cells or hemoglobin. The severity and type of anemia depends on how many genes are affected.

Where can I find information about genetic testing for thalassemia?

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It has additional information on genetic testing for alpha thalassemia and beta thalassemia.