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Sickle Cell Disease (SCD) is
a genetic blood disorder caused by changes in the HBB gene, which
affects the production of hemoglobin. Abnormal hemoglobin, known as hemoglobin
S, can make red blood cells rigid and crescent-shaped, particularly
when oxygen levels are low. These sickle-shaped cells can break down
prematurely, leading to chronic anemia, while their reduced
flexibility may block small blood vessels and restrict oxygen delivery to
tissues.
Common symptoms include
episodes of severe pain, fatigue, swelling of the hands and feet,
frequent infections, and delayed growth in children. Some individuals may also
develop complications involving the lungs, kidneys, eyes, bones, or brain.
The severity and frequency of symptoms vary between individuals and depend on
the specific genetic form of the disease.
Diagnosis usually involves blood tests and specialized hemoglobin
analysis.
Treatment focuses on preventing
complications, reducing pain, improving blood health, and maintaining
overall well-being. Depending on the individual's needs, care may include
medicines such as hydroxyurea, blood transfusions, vaccinations, and supportive
therapies. For selected patients, hematopoietic stem cell transplantation
can potentially provide a cure. Advances in gene-based therapies are also
expanding treatment possibilities for eligible patients. Regular medical
monitoring is important for managing SCD and supporting long-term
health.