Hematology focuses on diseases of the blood, bone marrow, and lymphatic system. Learn about the diagnosis and treatment of anemia, leukemia, and lymphoma.
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Diagnosing Sickle Cell Anemia early is the most critical step in managing the disease. In many countries, universal newborn screening has transformed the prognosis for children, allowing treatment to begin before symptoms ever appear. At Liv Hospital, our diagnostic approach is comprehensive, utilizing advanced laboratory techniques not only to confirm the presence of the disease but also to identify the specific genetic variant and monitor for potential complications before they become critical.
The goal is to diagnose the condition in the first few days of life.
A small sample of blood is taken from the baby’s heel shortly after birth. This is standard practice in many developed healthcare systems.
The blood is analyzed to check for the presence of abnormal hemoglobins.
If the test is positive for Sickle Cell Anemia, the infant is immediately started on prophylactic penicillin to prevent life threatening infections. This simple measure has drastically reduced infant mortality rates.
This is the definitive test used to confirm the diagnosis in older children and adults.
An electric current is applied to a blood sample. Different types of hemoglobin have different electrical charges and move at different speeds.
Hemoglobin S (sickle) moves differently than Hemoglobin A (normal). This test allows doctors to measure exactly what percentage of each hemoglobin type is present.
It can distinguish between Sickle Cell Anemia (HbSS), Sickle Cell Trait (HbAS), and other variants like HbSC or Thalassemia.
This is another advanced method used to quantify hemoglobin types.
HPLC is highly sensitive and provides a precise measurement of Hemoglobin F (fetal hemoglobin), Hemoglobin A2, and Hemoglobin S.
It is particularly useful for identifying rare variants and for monitoring the effectiveness of treatments like Hydroxyurea, which aims to increase fetal hemoglobin levels.
While protein analysis is usually sufficient, DNA testing offers the ultimate confirmation.
Doctors can look directly at the beta globin gene to identify the specific mutation.
For prenatal diagnosis, a sample of amniotic fluid is taken from the womb to test the DNA of the fetus. This allows parents to know if their unborn child will have the disease.
This is another prenatal test performed earlier in pregnancy, where a sample of the placenta is tested.
Diagnosis is just the beginning; continuous evaluation is key.
This routine test monitors the level of anemia (hemoglobin and hematocrit) and checks for infection (white blood cell count).
This measures how fast the bone marrow is making new red blood cells. In sickle cell anemia, this number is usually very high, indicating the marrow is working overtime.
Looking at the blood under a microscope allows doctors to see the actual shape of the cells. The presence of sickled cells, target cells, and Howell Jolly bodies (a sign of poor spleen function) confirms the disease status.
This is a critical screening tool for children with sickle cell anemia.
It measures how fast blood is flowing through the arteries in the brain.
If the blood is flowing too fast, it means the vessels are narrow, and the child is at high risk for a stroke.
Children identified as high risk are started on regular blood transfusions, which reduces the risk of stroke by over 90 percent.
Because the disease is systemic, evaluation involves the whole body.
Regular dilated eye exams by an ophthalmologist are needed to check for retinopathy (damage to the retina) starting in childhood.
Urine tests check for microalbuminuria (protein in the urine), an early sign of kidney strain.
An ultrasound of the heart checks for pulmonary hypertension (high pressure in the lung arteries) and heart enlargement.
For patients who receive blood transfusions, monitoring iron levels is essential to prevent iron overload, which can damage the liver and heart.
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Yes, tests like amniocentesis and chorionic villus sampling can diagnose the disease during pregnancy by analyzing the baby’s DNA.
The solubility test (Sickledex) is a quick screening tool that turns cloudy if sickle hemoglobin is present. However, it cannot distinguish between the trait and the disease, so follow up testing is always required.
Children with sickle cell anemia usually get a Transcranial Doppler ultrasound once a year from age 2 to 16 to screen for stroke risk.
Protein in the urine is an early warning sign that the kidneys are being damaged by the sickle cells. Early detection allows doctors to prescribe medication to protect the kidneys.
If one parent carries the trait, it is highly recommended that the other parent gets tested to understand the risk of having a child with the disease.
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