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What Is Sickle Cell Anemia?

Sickle Cell Anemia is a genetic blood disorder in which red blood cells become abnormally shaped, resembling a sickle or crescent. These misshapen cells are rigid and sticky, causing them to clump together and block blood flow through small vessels. Unlike normal red blood cells, which are round and flexible and live about 120 days, sickle cells tend to break down prematurely and live only 10 to 20 days. This leads to a constant shortage of red blood cells (anemia) and triggers episodes of intense pain, called sickle cell crises.

What Causes Sickle Cell Anemia?

Sickle Cell Anemia is caused by a mutation in the gene that instructs the body to make hemoglobin, the protein in red blood cells that carries oxygen. To develop the disease, a person must inherit two sickle cell genes—one from each parent. If only one gene is inherited, the individual has sickle cell trait, which usually doesn’t cause symptoms but can be passed on to children. The condition is most common among individuals of African, Mediterranean, Middle Eastern, and Indian ancestry.

What Are the Common Symptoms of Sickle Cell Anemia?

Symptoms of Sickle Cell Anemia can vary in severity and often begin in early childhood. The most common symptom is periodic pain episodes, which can range from mild to debilitating and typically affect the chest, abdomen, joints, and bones. Other symptoms include fatigue, frequent infections, delayed growth or puberty, vision problems, and swelling in the hands and feet. Over time, chronic complications such as stroke, organ damage, and pulmonary hypertension may develop.

How Is Sickle Cell Anemia Diagnosed?

Diagnosis of Sickle Cell Anemia typically begins with a simple blood test called a hemoglobin electrophoresis, which identifies abnormal types of hemoglobin. Newborn screening programs in many countries routinely test for sickle cell disease shortly after birth. In adults or children not diagnosed at birth, doctors may order additional blood tests, such as a complete blood count (CBC), to evaluate anemia and other blood abnormalities. Genetic testing can confirm the diagnosis and help identify sickle cell trait carriers.

What Are the Treatment Options for Sickle Cell Anemia?

While there is no universal cure for sickle cell anemia, treatment focuses on managing symptoms and preventing complications. Common treatments include pain relief, hydration, blood transfusions, and antibiotics to prevent infections. Hydroxyurea, a medication that helps reduce the frequency of pain crises and the need for transfusions, is commonly prescribed. In some cases, bone marrow or stem cell transplantation offers the potential for a cure, particularly in younger patients with a matched donor.

What Is the Role of Blood Transfusions in Managing Sickle Cell Disease?

Blood transfusions play a key role in treating certain complications of sickle cell anemia, including severe anemia, stroke prevention, and acute chest syndrome. Transfusions provide normal red blood cells that help carry oxygen more efficiently and reduce the proportion of sickled cells. However, long-term transfusion therapy carries risks, such as iron overload, which must be managed with iron-chelating medications.