Sickle Cell

Hello Mr. and Mrs. Jones. I would like to let you know that if you do have a baby, you are risking him or her having Sickle Cell Disease. What this is is it’s a disease that is genetically inherited and it involves the red blood cells. Mutations in the HBB gene cause this disease. This disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell will have mutations. The parents of offspring with an autosomal recessive gene each carry one copy of the mutated gene. The blood cells form an abnormal crescent shape (normal cells are in a disk form). The fragile, sickle-shaped cells deliver less oxygen to the body's tissues. They can also get stuck more easily in small blood vessels, and break into pieces that interrupt healthy blood flow. If in fact your baby does have the disease, you won’t see symptoms until around month four of its life. Symptoms include, abdominal pain, bone pain, breathlessness, delayed growth and puberty, fatigue, fever, paleness, rapid heart rate, and yellowing of the eyes and skin. If you would like, we can do some tests once your baby is born to diagnose and monitor him or her. The three common tests we do are CBC (Complete Blood Count), Hemoglobin Electrophoresis, and Sickle Cell Test. In CBC, we can count the number of red and white blood cells, as well as the amount of hemoglobin in the blood. We would need to draw two samples of blood. In your case, a sharp tool called a lancet would need to be used because your child would be young. The Hemoglobin Electrophoresis also measures the different types of oxygen-carrying hemoglobin in the blood. We would use the same technique as the test prior. The last one, (and the one I would recommend), is the Sickle Cell Test. It determines if there is abnormal hemoglobin in the blood stream that would cause Sickle Cell Disease and Sickle Cell Trait. For this, we only need to do one blood sample.