What is the alpha-globin gene family?

In humans, the α-globin gene family resides on chromosome 16p13. 3 and is composed of a cluster of 3 genes (ζ2-α2-α1) with protein products that bind heme and assemble into hemoglobin.

What is the alpha thalassemia trait?

Alpha thalassemia (thal uh SEE mee uh) trait is a condition that affects the amount of hemo- globin in the red blood cells. • Adult hemoglobin (hemoglobin A) is made of alpha and beta globins. • Normally, people have 4 genes for alpha globin with 2 genes on each chromosome (αα/αα).

How many alpha-globin genes do we have?

four α-globin genes
Genetic basis of disease Normal individuals have four α-globin genes arranged as linked pairs, α2 and α1, at the tip of each chromosome 16, the normal α genotype being written as αα/αα.

Is alpha thalassemia dominant or recessive?

Alpha-thalassaemia is considered an autosomal recessive disorder, but inheritance is complex because the alpha globin chain production is controlled by two genes: HBA1 and HBA2.

What does the alpha-globin gene do?

Alpha-globin is a component (subunit) of a larger protein called hemoglobin, which is the protein in red blood cells that carries oxygen to cells and tissues throughout the body.

What is alpha and beta-globin?

Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells. In adults, hemoglobin normally consists of four protein subunits: two subunits of beta-globin and two subunits of a protein called alpha-globin, which is produced from another gene called HBA.

Is alpha thalassemia serious?

However, health problems caused by alpha thalassemia and its treatment are common and can be serious. Severe thalassemia (severe hemoglobin H or hydrops fetalis) can cause heart failure and death.

How alpha thalassemia is inherited?

The inheritance of alpha thalassemia is complex. Each person inherits two alpha-globin alleles from each parent. If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait.

What gene causes thalassemia?

Mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of hemoglobin . Hemoglobin consists of four protein subunits, typically two subunits of beta-globin and two subunits of another protein called alpha-globin.

Is thalassemia the same as sickle cell?

Beta thalassemia disease is not a form of sickle cell disease, but it is a serious lifelong illness. People who have beta thalassemia disease do not make enough hemoglobin. The amount of hemoglobin a child can produce, determines whether a child has: Beta Thalassemia Intermedia.