Sickle cell disease is the most common of the hereditary blood disorders. It mostly occurs among black Americans and black Africans. Sickle cell disease in black Americans occurs in about 1 in 500 live births.
Red blood cells deliver oxygen to working or active tissues. In the lungs, hemoglobin (the molecule in the red blood cell) takes on oxygen and, at the same time, releases carbon dioxide. This process is called oxygenation. At the tissue level, this activity is reversed. The same hemoglobin molecule releases oxygen and takes on carbon dioxide. This process is called deoxygenation.
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In sickle cell disease, certain red blood cells become crescent-shaped These abnormal red blood cells, carrying an abnormal hemoglobin known as hemoglobin S, are flimsy.
A person who has sickle cell disease can become more likely to get infections because the damaged cells eventually block the spleen.
A severe attack, known as sickle cell crisis, can cause pain because blood vessels can become blocked or the defective red blood cells can damage organs in the body.
Causes of Sickle Cell Disease
Sickle cell disease is caused by change of certain types of hemoglobin chains in red blood cells. The changes in the building of normal hemoglobin result in the abnormal hemoglobin of sickle cell disease. These altered molecules do not have the smooth motion required for oxygenation and deoxygenation. When the oxygen concentration in the blood is reduced, the red blood cell takes up the typical sickle shape. This causes the red blood cell to be stiff and rigid, and stops the smooth passage of the red blood cells through the narrow blood vessels. When this happens, red blood cells are unable to carry oxygen to tissues, and tissue cell injury or death occurs. Someone with sickle cell disease would be experiencing pain with the sickle cell crisis.
Sickle Cell Disease Symptoms
The sites most often affected by the blocking or stacking action of sickled cells are found in the lungs, bone, liver, muscles, brain, spleen, penis, eyes, and kidneys.
The immune system of a person with sickled cells weakens intensely. People with sickle cells are highly vulnerable to infections from certain forms of bacteria. Some of the most common infections are from pneumonia, flu viruses, and salmonella.
Severe pain is the most common of sickle cell disease emergencies. A person may not know what brought on the pain, but one or more of the following situations may have contributed to the start of the painful sickle crisis:
- Hypoxia (decrease in oxygen to body tissue)
- Cold exposure
- Use of drug and alcohol
- Pregnancy and stress
Four patterns of an acute sickle cell crisis are now recognizable. They are based on the part of the body where the crisis occurs.
- Bone crisis: An acute pain in a bone can occur, typically in an arm or leg. The affected area may be tender. Common bones involved include the large bones in the arm or leg: the humerus, tibia, and femur.
- Acute chest syndrome: Sudden acute chest pain associated with coughing up of blood. Low-grade fevers can be present. The person is usually short of breath. Acute chest syndrome is common in a young person with sickle cell disease. Chronic (long-term) sickle cell lung disease develops with time because the acute and subacute lung crisis leads to scarred lungs and other problems.
- Abdominal crisis: Sudden and constant pain may be associated with the abdominal crisis of sickle cell disease. It becomes insistent. The pain may or may not be localized to any one area of the abdomen. It may be with symptoms like diarrhea, nausea, and vomiting.
- Joint crisis: Acute and painful joint crisis may develop without a significant traumatic history. Its concentrates is either in a single joint or in multiple joints. Often the connecting bony parts of the joint are painful.
- Eyes: The effect of sickle cell disease on the eyes comes from the increased viscosity of blood and the narrowness of the eye’s blood vessels. Retinopathy – disease of the retina, is common and causes problems with vision.
- Kidneys: Some amount of kidney damage occurs in sickle cell disease.
- Genitals: Priapism (a constant erection of the penis) is common. It affects about 40% of all men with sickle cell disease. Severe episodes causes impotency.
- Infections: People with sickle cell disease have weakened immune systems and are at increased risk for developing infection in the kidneys, lungs, bones, and central nervous system.
- Blood problems: People with sickle cell disease can develop anemia-a reduction in the number of red blood cells. Symptoms of anemia are shortness of breath (oxygen is not getting to tissues), lightheadedness, and fatigue.
- Heart attacks can occur
Sickle Cell Disease Diagnosis
Your doctor will take the complete medical history of the sickle cell disease. This history should include whether any infections are present. These problems would be caused by dehydration, bleeding, lack of oxygen in the tissue, alcohol and drug use, and pregnancy.
- During a physical exam, the physician will check the nervous system, lungs, bones, eyes, and abdomen, in particular.
- The physician will perform blood and urine tests. If indicated, the physician may have a CT scan of the head taken and perform a spinal tab to check for problems in the spinal fluid and brain.
If the physician suspect’s sickle cell disease in an adult, or more commonly a child not previously diagnosed with this disease, attention will first be paid to getting a family history of sickle cell disease. The physician then performs a blood test to detect the disease.
Sickle Cell Disease Treatment at Home
Minute alterations in the red blood cells can instigate a torrent of symptoms leading to a sickle cell crisis. Therefore home care is often difficult. The best home care is understanding the illness and knowing when and where to seek immediate medical care.
Sickle Cell Treatment with Medications
- For sicle cell pain crisis, pain medications, often narcotics, will be administered.
- IV fluids are an essential part of therapy.
- Infection: If the physician diagnoses a bacterial infection, antibiotics are given.
- Anemia: A red blood cell transfusion may be required if there is a significant decrease in the red blood cell count
- Hydroxyurea may be used to increase the amount of Hgb F and decrease the amount of Hgb S, which can decrease the longstanding risks of sickle cell crises.