Screening helps in management of sickle cell

(CNS): Cayman is joining other countries around the world today marking World Sickle Cell Day to raise awareness of the disease. There are 46 people with sickle in the Cayman Islands and the Public Health department says it screens, as well as diagnoses and helps people manage what can be a serious condition. Screening for high risk potential parents has been in place since the early 1970s and routine newborn screening was introduced in 1997. This has helped in early identification of sickle cell trait and the disease allowing for appropriate counselling and management. 

“It is important to test for sickle cell trait (carriers) – as this information can help parents make informed reproductive choices.  If someone has sickle cell trait, it is important to know if one’s partner is also a carrier,” said Joy Merren, Genetics Coordinator at the Health Services Authority. “If both parents are sickle cell carriers, then with each pregnancy, there is a 25% risk of having a child with sickle cell disease. While sickle cell trait is mild, sickle cell disease is serious.”

A Sickle Cell Support Group meets four times a year. The dates and times will be announced two weeks prior to the meetings and the known patients are informed. Patients and families receive information on management of the disorder as well as support. The group meets at the Public Health Waiting Room. 

Sickle cell disease is an inherited chronic disorder that affects red blood cells. It has a worldwide distribution, and is one of the most common genetic disorders. Everyone has two genes that make haemoglobin. Normal red blood cells contain haemoglobin A, a protein that helps red blood cells carry oxygen around the body. With sickle cell, there is a different form of protein, haemoglobin S and with the disease, both genes are affected, causing severe symptoms.

Normal red blood cells are round, flat and very flexible. However, when the oxygen comes out of the red blood cells of sickle cell disease, the cell becomes stiff and takes on the shape of a sickle – hence, the name. The sickle cells clump together, are not able to squeeze through the small blood vessels, and so the sickle cells get destroyed more quickly.  A normal red blood cell lives approximately 120 days but a sickle cell may only live 11 or 12 days.

When only one gene is affected, it is called sickle cell trait, or persons are called sickle cell carriers. Having sickle cell trait means that the person stays healthy under normal circumstances, and the main significance is that it can be passed on to one’s children. However, under certain extreme circumstances, a person with the trait may experience complications as if having sickle cell disease. Persons with just the trait cannot later develop the sickle cell disease.

A blood test can be done to determine if a person has the trait and when both parents are sickle cell carriers, with each pregnancy, there is a 25% chance of the child being completely free from sickle cell, a 50% chance of the child having the sickle cell trait, i.e., being a carrier and a 25% chance of the child having the disease. If only one parent is a carrier, then there is a 50% chance of the child being completely free of sickle cell a 50% chance of the trait but no chance of the child having the disease.

Symptoms associated with sickle cell disease include anaemia, jaundice and gallstones due to rapid breakdown of the red blood cells as well as painful swelling of fingers and toes in babies and painful attacks of joints, back and abdomen as there may be damage to the bone marrow. Infections may develop, such as pneumonia as well as leg ulcers because of less oxygen to the lower legs.

Along with the recommended immunizations and pneumococcal vaccines the disease is managed with penicillin, to help prevent serious infections, folic acid daily to help make new red cells as well as symptom specific drugs.

For further information, please contact Joy Merren, Genetics Coordinator, on 244-2630 at the Public Health Department.