I have sickle cell trait/ my husband has beta thal. Our son tested positive for sickle cell but they have yet to tell us which type. Can we find out?
Autosomal recessive. Sickle cell disease is autosomal recessive. Therefore, those affected carry two abnormal copies of the hbb gene (the gene that codes for the beta globulin subunit of hemoglobin). Beta thalassemia is autosomal recessive and also affects that hbb gene. Your son has a 1 in 4 chance that both genes for hbb are abnormal (called "sickle beta thalassemia). Hemoglobin electrophoresis will test for this.
D/w MD. You should discuss it with your pediatric hematologist. There is a likelihood that your son to have a sickle beta thal- this condition will be presented with symptom- unlike you and your husband-who do not have symptoms. There is likelihood that your son will be presented with anemia, and also perhaps needing transfusion. For detail please discuss with your pediatric hematologist.