Diagnosis of Sickle Cell Anemia
The most common method for detecting Sickle Cell Anemia is a blood test which checks for the presence of hemoglobin S. The blood test can be performed at any age. The blood is screened and if hemoglobin S is detected additional tests are performed to determine if there are one or two sickle cell genes present.
Prior to birth, a sample of the amniotic fluid (the fluid that surrounds the baby in the womb) can be tested to detect sickle cell genes.
If a patient is known to have sickle cell anemia, doctors will routinely perform blood tests to monitor their red blood cell production. They may also perform additional tests to detect any health complications related to the disease.
Get To Know About The Signs And Symptoms
This disease is present in the person ever since birth. But the main signs or symptoms start occurring only after 5 to 6 months of the birth. The children having this disease may start showing symptoms early on in life while some may start to show it later in life. The very early symptoms in children are as follows:
- The yellowness of eyes, Jaundice.
- Swelling of hands and feet.
- Symptoms of anemia, such as extreme fatigue and tiredness.
- Complications, such as infections.
- Delayed growth
- Episodes of pain are called pain crises.
Most children suffering from sickle cell anemia are pain-free except for the episodes of crises, but the pain increases and becomes worse in teens and adults. The pain can be chronic and also on-going over a lifetime. Over some time, this disease causes damage to various organs of the body due to the abnormal red blood cells and its reduced capacity to carry oxygen to the various parts of the body. This is the main reason why the organs get devoid of blood rich in oxygen and eventually start getting damaged.
This disease can harm the patient’s organs such as the spleen, liver, kidneys, eyes, heart, brain, bones, joints, or skin.
Diagnosis Of The Disease To Look For
The diagnosis of the disease can be made by examining the blood samples of the person. For the diagnosis of this disease, hemoglobin electrophoresis is done which determines the presence of a mutated hemoglobin gene. If the blood cell is sickle-shaped, then the person is a carrier of the mutated gene or has the disease.
Screening tests, in this case, can be very beneficial. It lets the person know if he or she is a carrier of the mutated hemoglobin gene and can pass this onto one’s own child. This can also be called as a preventive screening test.
A newborn screening test is conducted to detect the disease in a newborn. In case this test results in a positive result, the test is repeated, and further tests are also done to recognize the exact type of hemoglobin cell mutation. In such cases, the parents of the child are directly contacted to let them know of the result. A newborn screening test is done to know whether the baby has an abnormal hemoglobin trait.
Prenatal screening is also done wherein a diagnosis of this disease can be made before the baby is born. This test is done using a sample from the amniotic fluid surrounding the embryo, or tissue is taken from the placenta, the organ that attaches the umbilical cord to the mother’s womb. This test can be done as early as around 8 – 10 weeks into pregnancy.
