What is beta globin sickle cell?

The beta globin protein is one of the subunits of hemoglobin, a protein necessary for the oxygen-carrying function of red blood cells. People with the sickle cell mutation in both copies of the HBB gene produce proteins that clump together and lead to changes in the shape and behavior of red blood cells.

What are abnormal Haemoglobin variants?

Background: Abnormal haemoglobin variants (HbSS,AS,AC,SC,etc) have been known to be common among blacks. Patients with sickle cell disease are often faced with the risk of alloimmunization from allogeneic blood transfusion.

What causes hemoglobin variants?

Hemoglobin variant is inherited from your parents, like hair or eye color. If one parent has hemoglobin variant trait, there is a 50% (1 in 2) chance with each pregnancy of having a child with hemoglobin V trait. Hemoglobin variant trait is not a disease, and usually has no symptoms.

Is sickle cell anemia is a beta globin mutation?

Sickle cell anemia (also called homozygous sickle cell disease or HbSS disease) is the most common form of sickle cell disease. This form is caused by a particular mutation in the HBB gene that results in the production of an abnormal version of beta-globin called hemoglobin S or HbS.

What are the different types of sickle cell disease?

The four main types of sickle cell anemia are caused by different mutations in these genes.

• Hemoglobin SS disease.
• Hemoglobin SC disease.
• Hemoglobin SB+ (beta) thalassemia.
• Hemoglobin SB 0 (Beta-zero) thalassemia.
• Hemoglobin SD, hemoglobin SE, and hemoglobin SO.
• Sickle cell trait.

What is the most common variant of hemoglobin?

Hemoglobin A (Hb A)
Some normal hemoglobin types are; Hemoglobin A (Hb A), which is 95–98% of hemoglobin found in adults, Hemoglobin A2 (Hb A2), which is 2–3% of hemoglobin found in adults, and Hemoglobin F (Hb F), which is found in adults up to 2.5% and is the primary hemoglobin that is produced by the fetus during pregnancy.

What type mutation is sickle cell?

Sickle cell disease (SCD) is a genetic disorder caused by a mutation in both copies of a person’s HBB gene. This gene encodes a component of hemoglobin, the oxygen-carrying protein in red blood cells. The mutation causes hemoglobin molecules to stick together, creating sickle-shaped red blood cells.

What is variant window in HbA1c?

HbA1c is measured on Biorad Variant II Turbo by using the HPLC method. Hb variant is identified if the chromatogram, which is reviewed during reporting, showed abnormal peaks such as unknown peaks after or before the A0, variant window peak after A0, S-window or C-window.