Sickle Cell Disease - Diagnosis

Diagnosis

Prenatal diagnosis of sickle cell disease is now possible for women who may be at risk for having a child with the disease. A positive result for sickle cell disease, however, poses extremely difficult questions even for parents who are not opposed to abortion:

• Some cases of sickle cell disease can be mild, but the parents and doctors have no way of knowing this from test results.
• The benefits of current treatments and pain management must be weighed against the likelihood of suffering and a shorter life span for their child.
• Parents who choose to keep the child must be prepared to be vigilant and aggressive partners with their doctors. In spite of their own emotional anguish, they must be loving and fully supportive when their child is suffering a sickle cell crisis.
• Energy, time, and money are necessary expenditures in raising any child; they are significantly increased when a child has this severe and life-threatening illness.

A genetic test known as preimplantation genetic diagnosis (PGD) may prove to determine the presence or absence of the sickle cell mutation in embryos (fertilized eggs) before they are implanted in the mother during assisted fertilization techniques. This genetic tool may eventually help avoid the often emotionally devastating effects of abortion.

Screening Tests for Newborns

Most states, though not all, now screen infants for sickle cell disease. The earlier a child is diagnosed with sickle cell disease, the higher the survival rate. States where screening is now required report survival rates in children with sickle cell disease that are equal to those of African-Americans without the disease. To perform the test, a blood sample is taken from the baby's heel using a simple needle prick.

Ruling Out Other Diseases

As part of the diagnosis, the doctor will rule out other conditions that resemble sickle cell disease. It is sometimes difficult to distinguish between abnormalities in the bone caused by infection and those caused by a sickle cell crisis. Bone scans may be performed to help diagnose possible bone infections. Other disorders that might mimic certain stages of sickle cell disease include some types of anemia, rheumatic fever, hepatitis and other liver diseases, and infections of the kidney or heart. Other genetic abnormalities can cause sickling of the red blood cells, including hemoglobin C, hemoglobin I, and high levels of Bart's hemoglobin.