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Sickle cell disease (SCD) is
an inherited genetic blood disorder caused by a mutation in the HBB
gene, which produces abnormal hemoglobin known as hemoglobin S (HbS).
Under low oxygen conditions, red blood cells become rigid, sticky, and crescent
or sickle-shaped instead of their normal round shape. These abnormal cells can block
small blood vessels, reducing blood flow and oxygen delivery to
tissues, leading to pain and organ damage.
Common symptoms include chronic
anemia, severe pain episodes (vaso-occlusive crises), fatigue, swelling of
the hands and feet, frequent infections, delayed growth in children,
jaundice, and vision problems. Repeated blockage of blood vessels may
damage the heart, lungs, kidneys, spleen, and brain, increasing the risk
of serious complications such as stroke and acute chest syndrome.
Diagnosis is usually made
through newborn screening, hemoglobin electrophoresis, genetic testing, and
blood tests. Early detection allows prompt medical care and prevention of
complications.
Management may include hydroxyurea
therapy, pain control, blood transfusions, antibiotics, vaccinations, and supportive
care. In selected patients, hematopoietic stem cell transplantation may
offer a potential cure, while emerging gene therapies are providing new
treatment possibilities. Regular follow-up with a hematologist, healthy
lifestyle habits, and early intervention significantly improve quality of life
and long-term outcomes for individuals with sickle cell disease.