Sickle Cell Disease: Symptoms, Causes & Treatment
أنيميا الخلايا المنجلية
Sickle cell disease is an inherited blood disorder in which red blood cells change into a rigid sickle shape that obstructs blood flow, causing severe pain crises, chronic anemia, and susceptibility to infection. It is managed by preventing crises and supportive care, and may be cured by bone-marrow transplant in selected cases.
What is Sickle Cell Disease?
Sickle cell disease is an inherited blood disorder that affects hemoglobin, the oxygen-carrying protein in red blood cells. In this disease the body produces an abnormal type of hemoglobin that makes red blood cells change from their flexible disc shape to a rigid, sticky sickle (crescent) shape when oxygen is low.
These sickle cells do not pass easily through small blood vessels, so they clump and block blood flow to tissues, causing sudden severe pain crises (vaso-occlusive crises) in the bones, chest, and abdomen, and they are also short-lived and break down quickly, causing chronic anemia. The disease is inherited when a sickle gene comes together from both parents and is prevalent in certain regions, including parts of our region.
Sickle cell disease is a chronic disease needing comprehensive lifelong care, but modern treatment has greatly improved patients' quality of life and lifespan. Management includes preventing crises (hydration, avoiding triggers such as cold, exertion, and dehydration), medications that reduce crisis frequency, preventive antibiotics and vaccinations to protect patients from serious infections, and blood transfusion when needed. Bone-marrow transplant remains the only treatment that may cure the disease in selected cases, with promising gene therapies emerging. Because of the importance of the genetic factor, premarital screening and genetic counseling are essential for prevention.
Symptoms
- Sudden severe pain crises in the bones, chest, and abdomen.
- Chronic anemia with fatigue, pallor, and jaundice.
- Painful swelling of the hands and feet in children.
- Recurrent infections and delayed growth.
Causes
- Inheriting the sickle hemoglobin gene from both parents (recessive disease).
- Production of abnormal hemoglobin that distorts red blood cells.
- Marriage between two carriers raises the risk of an affected child.
Diagnosis
- Hemoglobin electrophoresis to confirm the sickle type.
- Complete blood count and blood smear.
- Genetic testing and newborn screening in some regions.
Treatment
Preventing crises
- Good hydration and avoiding cold, exertion, dehydration, and high altitudes.
- Medications that reduce crisis frequency and severity.
Supportive care
- Pain relievers during crises and blood transfusion when needed.
- Preventive antibiotics, vaccinations, and folic acid.
Potentially curative treatment
- Bone-marrow transplant in selected cases, with promising gene therapies.
This content is educational and does not replace consulting a hematologist.
Complications
- Acute chest syndrome, an emergency.
- Stroke and organ damage (spleen, kidneys).
- Serious infection, gallstones, and delayed growth.
Prevention
- Premarital screening and genetic counseling for gene carriers.
- Avoiding triggers and adhering to preventive treatment.
- Vaccinations and preventive antibiotics to avoid infection.
When to see a doctor
Go to the emergency department immediately for severe pain not responding to painkillers, fever, chest pain and shortness of breath (acute chest syndrome), or stroke symptoms such as sudden weakness or speech difficulty. Follow up regularly at a specialized clinic. Book an appointment with a hematologist on ClinicsJo.