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Doctors' Thoughts:

 

Why It’s Important For Children And Mothers To Be Tested For Sickle Cell Disease

 

Sickle Cell Disease is a disorder of the blood which predominantly affects individuals of African ancestry.  There are several forms of Sickle Cell Disease, the most common being the hemoglobin SS form, also called Sickle Cell Anemia (the other forms like hemoglobin SC or sickle beta thalassemia are called sickle cell disease). When talking about all forms of sickle cell blood disorders, they are referred to as sickle cell disease.

 

Sickle cell disease is a genetic disorder inherited from both parents to their child. To have a child with sickle cell anemia, both parents must pass on an abnormal gene (sickle cell trait). With each pregnancy between the carrier parents, there is a 25% (or a ¼ chance) of having a child with the disease. You cannot catch Sickle cell anemia from someone; it is not a contagious disease. It is a disorder that individuals are born with and have for life. Even when only one parent has sickle cell trait, there are special situations where a child may be born with a different form of sickle cell: hemoglobin SC, or sickle beta thalassemia for example. This occurs when the one parent has sickle cell trait and the other parent has a different gene abnormality and passes it on to the child while the other parent passes on the abnormal sickle cell gene.

 

Sickle cell trait occurs in high frequency in populations previously exposed to falciparum malaria including those from Africa, India, the Mediterranean area, and Saudi Arabia. Therefore, sickle cell disease is more common in individuals from these areas. However, you can be Caucasian and have sickle cell trait or disease. For this reason, all states in the US test all newborn babies for sickle cell disease and trait through a program called newborn screening which tests for various common genetic (inherited) illnesses. In several states pregnant women and their partners are tested for sickle cell trait so that they can be counseled about the possibility of having a child with sickle cell.

 

Testing of pregnant women and their partners in addition to early testing of the newborn baby is critical to identify children at risk early before medical problems arise. Once a child is identified as having sickle cell disease it is important for him/her to receive regular comprehensive care by a health care professional who is familiar with this blood disorder and can appropriately counsel the family about preventive measures to keep their baby healthy. All identified infants are started on protective antibiotic therapy with twice daily penicillin which they continue until their 5th birthday. This protects them against one of the bacteria that cause serious illness and even death in children with sickle cell.

 

Sickle cell trait is not a form of sickle cell disease, but it can be passed on to children through birth, similar to the way you inherit your eyes or color of your hair. Individuals with sickle cell trait generally do not have medical problems related to sickle cell trait.  Sickle cell trait exists in over 20% of individuals in equatorial Africa, up to 20% of individuals in the eastern provinces of Saudi Arabia and central India, and approximately 5% of individuals in parts of the Mediterranean region, the Middle East and North Africa.

 

There are roughly 80,000 individuals living with sickle cell disease in the United States and millions worldwide. Early diagnosis and comprehensive care has dramatically improved the lifespan of these individuals.

 

 

Tamara N. New, MD, FAAP

Assistant Professor

Comprehensive Sickle Cell Disease Program

Aflac Cancer Center & Blood Disorders Service

Children's Healthcare of Atlanta @ Scottish Rite

Emory University, Department of Pediatrics

 

Press Release—September is National Sickle Cell Awareness Month    Letter to Ministry of Health

 

Press Release—November 2008

 


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