Is alpha thalassemia caused by deletion?

Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries.

What gene is mutated in alpha thalassemia?

Alpha thalassemia is caused by mutations in two different genes, the HBA1 and the HBA2 genes. Most individuals inherit two copies of each gene (for a total of four genes); one of each from a person’s father, and one of each gene from a person’s mother.

What mutation causes thalassemia major?

Beta thalassemia is caused by mutations in the hemoglobin beta (HBB) gene. Individuals with beta thalassemia minor have a mutation in one HBB gene, while individuals with the intermediate and major forms have mutations in both HBB genes.

Is alpha thalassemia major compatible with life?

Hydrops fetalis (alpha thalassemia major) is incompatible with life and requires identification in utero and in utero transfusions if the fetus is to survive and be born.

What are the symptoms of alpha thalassemia?

What Are the Signs & Symptoms of Hemoglobin H Disease or Alpha Thalassemia Major?

• extreme tiredness.
• pale skin.
• shortness of breath.
• a fast heartbeat.
• yellow skin and eyes (jaundice)
• moodiness or irritability.
• slow growth.
• change in the shape of bones in the face and head.

How do you get alpha thalassemia major?

Because alpha thalassemia is inherited, family history and ancestry can help diagnose this blood disorder. A parent with alpha globin-making genes that are altered or missing, may have a child with a form of alpha thalassemia. Each child has a 25 percent chance of inheriting one, two or three missing genes.

What is the life expectancy of someone with alpha thalassemia?

Persons with the thalassemia trait have a normal life expectancy. Persons with beta thalassemia major often die from cardiac complications of iron overload by 30 years of age.