Hb Electropheresis Sickle cell disease

Biochemical carrier test for sickle cell disease and beta-thalassemia. This test looks at biochemical evidence of carrier status. This does not involve DNA diagnostics.
Hb electrophoresis from EDTA blood consists of:

• HbA1
• HbA2
• HbF
• (HbS)

Carriers of HbP (heterozygotes) have a greater chance of surviving malaria infection.
Newborns in the Netherlands are tested for hemoglobinopathy via the heel prick. But HbP can also be detected before and during pregnancy with simple blood tests. Carrier screening for hemoglobinopathy (HbP) is recommended worldwide as a low-threshold provision in health care.

Sickle cell disease and alpha and beta thalassemia are the main forms of severe hereditary anemia. For these, if both parents are carriers, there is a 25% increased risk of having a child with sickle cell disease or thalassemia in each pregnancy.
The risk of being a carrier is strongly increased if (carriers) of sickle cell disease or thalassemia run in the family, but also if (ancestors of) the patient(s) originate from Africa, the Antilles, the Mediterranean, Southeast Asia or the Middle East (see map in red). In some African countries even 30-40% of the population is a carrier.

Both sickle cell disease and thalassemia can cause severe anemia from infancy. With both conditions, treatment at the earliest possible stage is of great importance to avoid early mortality and.

Carriers of sickle cell disease and thalassemia do not have severe anemia and usually do not know they are carriers. Carriers of alpha or beta thalassemia may have a mild form of anemia. Carriers of sickle cell disease usually do not have anemia. Two "healthy" carriers together form a carrier pair. For a carrier pair, there is a 25% chance in each pregnancy of having a child with a severe form of anemia. Currently, at least 5% of the world's population is a 'healthy' carrier of HbP.

When can you take this test?

• Pregnant or partner from an area at increased risk of carrier status
• People with anemia without iron deficiency, or persistent anemia even after iron supplementation.
• Persons with a family history of HbP
• Both parents and relatives of a child diagnosed with the heel prick as sick or a carrier of HbP.

The signs and symptoms of sickle cell disease vary. Some people have only mild symptoms; others show very severe symptoms and often require hospital treatment. Sickle cell disease is present at birth, yet children do not show symptoms until they reach the age of 4 months. The most common symptoms are linked to anemia and are generally not severe:

• Fatigue, weakness and pallor due to red blood cell deficiency
• As the heart must work harder to pump around the reduced amount of oxygen in the blood, a rapid heartbeat may occur
• Jaundice. When red blood cells die, they release their hemoglobin into the bloodstream. The hemoglobin is broken down by the body into a yellow waste product called bilirubin. This can cause skin and eyes to turn a yellowish color and the urine to turn dark. In some patients, this is almost always visible, but others have it only during periods of increased red blood cell breakdown
• Pain in the upper abdomen. Due to the increased level of bilirubin in the blood drained through the bile ducts, painful gallstones may develop.
• Pain attacks. Due to the abnormal shape of the sickle cells, the red blood cells tend to clump together. These clumps block blood flow and can cause pain attacks due to the oxygen deprivation that occurs in the underlying tissues. This pain is called a "sickle cell crisis" and occurs mainly in the bones, but also in the lungs and abdomen.

Many other complications can also occur.