OVERVIEW
OVERVIEW
Sickle cell anemia is an autosomal dominantly inherited hemoglobinopathy with sickle-shaped red blood cells, one of the clinical forms of sickle cell syndrome. The disease may present with jaundice, anemia, hepatosplenomegaly, bone and joint and chest and abdominal pain.
Whether medical insurance
yes
Department
Hematology
Alias
Sickle Cell Disease
Clinical Symptoms
Jaundice, anemia, liver and spleen enlargement, bone and joint and chest and abdominal pain, etc.
Hazards
Chronic organ damage may occur in long-term patients, and may even be life-threatening due to infections, heart failure, shock caused by infarction-type crisis, and complications in the central nervous system.
Complications
Infarction type crisis, aplastic crisis, megaloblastic crisis, splenic retention type crisis, hemolytic crisis, etc.
Examination
Blood routine, blood smear, bone marrow image, erythrocyte sickling test, serum bilirubin test, plasma binding bead protein test, erythrocyte half-life measurement, hemoglobin electrophoresis, etc.
Diagnosis
Diagnosis is made on the basis of genetic history, clinical manifestations, peripheral blood picture, bone marrow picture, hemoglobin electrophoresis and other tests.
Treatment
Currently there is a lack of effective treatment. Symptomatic treatment can reduce symptoms and pain, such as prevention and treatment of infection, blood transfusion therapy.
Curability
The disease has a poor prognosis and lacks effective treatment. Symptomatic supportive treatment can relieve symptoms and prolong life.
Dietary recommendations
Give high protein, high vitamin, rich in iron and folic acid, easy to digest food.
Etiology
Epidemiology
Mainly found in black African populations.
Etiology
The disease is caused by the replacement of glutamic acid by valine at position 6 of the beta chain to form abnormal sickle hemoglobin (HbS).
Symptoms and Diagnosis
Typical symptoms
1. It presents with chronic hemolytic anemia, constant mild anemia, mild yellowing of the sclera, mild to moderate enlargement of the liver, and splenomegaly seen in infants and young children, followed by shrinkage due to fibrosis. When cold, infection, dehydration, anemia symptoms worsen, yellow staining also deepen.2. Pain crisis due to capillary microthrombosis. Swelling and pain in the fingers (toes), hands (feet) and back of infants and young children are common, and myalgia in the limbs, large joint pain and low back pain are common in children and adults, in addition to severe abdominal pain, headache, and even coma and paralysis of limbs, etc. 3. Most patients have growth and developmental deficiencies, and their general conditions are poor and susceptible to infections. Chronic organ damage occurs in long-term patients, and heart, kidney and lung functions are often impaired, and congestive heart failure can occur. Skeletal involvement and ocular symptoms are caused by lesions such as retinal infarction, fundus hemorrhage, and retinal detachment. Neurologic manifestations include cerebral thrombosis and subarachnoid space hemorrhage. Male patients may have sexual insufficiency. Chronic ulceration of the skin of the lower extremities is a common sign.
Diagnostic basis
1. history of hereditary disease. 2. clinical manifestations such as jaundice, anemia, hepatosplenomegaly, osteoarticular and thoracic and abdominal pain. 3. hemoglobin is 50-100g/L, which decreases further in critical condition. The reticulocyte count is often above 10%. Erythrocyte size is uneven, polychromatic, eosinophilic punctate color cells increase, can see nucleated erythrocytes, target erythrocytes, anomalous erythrocytes, Howell-Jolly microsomes.4. Bone marrow image shows significant hyperplasia of the red blood lineage, but hyperplasia is low in aplastic crisis, and there are macrocytic changes in megakaryocyte crisis.5. Erythrocyte sickling test is positive, and sickle cells can be seen in general when the HbS>7%.6. Serum bilirubin is mildly to moderately elevated, and significantly elevated in hemolytic crisis.7. Plasma-bound bead protein is decreased, and plasma free hemoglobin may be increased.8. Erythrocyte half-life assay reveals that erythrocyte survival time is significantly shortened to 5-15 days [normal is (28±5) days].9. Hemoglobin electrophoresis reveals that HbS accounts for 80% of the cases.10.
Treatment
Therapeutic Approach
Effective treatment is lacking. Symptomatic treatment can reduce symptoms and pain and help the patient through the critical period.
Drug therapy
1. Blood transfusion: If not necessary, blood transfusion should not be given frequently. When aplastic crisis occurs, red blood cells should be transfused. When megaloblastic crisis occurs, folic acid treatment should be given. Once infarction crisis, hemolytic crisis or other serious conditions occur, blood exchange therapy can be carried out.2. The application of hydroxyurea, erythropoietin and with iron supplementation can significantly increase the level of fetal hemoglobin (HbF) and reduce the embolic crisis and the amount of blood transfusion.3. Prevention and treatment of infections can reduce the occurrence of crisis.
Surgical treatment
Splenectomy is not significantly effective in this disease.
Other treatments
1. administration of oxygen inhalation is helpful, and early administration of analgesics reduces the patient’s pain. 2. bone marrow transplantation has been successful in a few cases. 3. gene replacement therapy produces a normal genotype by loading it to replace the expression of the abnormal genotype.
Prognosis
The disease has a poor prognosis and lacks effective therapy.
Nursing care
Daily care
1. Focus on prevention, premarital and prenatal checkups. 2. Maintain appropriate temperature and humidity, and ventilate frequently. 3. Clean and hygienic environment in the sick room, keep the patient’s body clean, prevent the spread of bacteria in the body, and prevent all kinds of infections. 4. The patient should take medication according to the doctor’s prescription, adhere to the regular use of medication, and have regular outpatient review. 5. Family members should be good at understanding and supporting the patient, and learn how to listen; they should seek the help of professionals when necessary to avoid accidents. 6. to avoid accidents.
Dietary management
Give high-protein, high-vitamin, iron and folic acid-rich, easy-to-digest food, aiming at strengthening nutrition and improving the patient’s general condition.
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