Sickle Cell Disease is an inherited condition characterized by a sickle (crescent) shaped red blood cells and chronic anaemia due to excessive destruction of red blood cells.
Sickle cell disease is a genetic condition that is present at birth. It is inherited when a child receives two sickle cell genes; one from each parent. Sickle cell disease is caused by a mutation in the gene that tells your body to make the iron-rich compound that makes blood red and enables red blood cells to carry oxygen from your lungs throughout your body (hemoglobin).
Sickle Cell Disease Pathophysiology
Sickle cell disease is a genetic condition that develops when two abnormal alleles are inherited from both parents. A sickle cell patient’s red blood cells have two defective hemoglobins in them. (HbS). When valine, an amino acid, replaces glutamic acid on the sixth chain of hemoglobin, sickle cell disease is caused. As a result, oxygenated Hb S is much less accessible than oxygenated Hb A. The abnormal hemoglobin (HbS) changes in shape and flexibility when an erythrocyte loses oxygen to the interstitial fluid or is subjected to reduced oxygen tension. The erythrocytes carrying Hb S become deformed, rigid, and sickle-shaped as a result, losing their round, malleable, biconcave disk shape. It has a lifespan of 10 to 20 days instead of 120 days. Even though the loss of sickled-shaped cells stimulates erythropoietin, it is unable to keep up with hemolysis. As a consequence, the person develops hemolytic anemia, which lowers the amount of oxygen in the body. Long, rigid erythrocytes that stick to the endothelium of tiny blood vessels also stick to one another, which reduces blood flow to an area or organ and results in ischemia or infarctions. The person is exposed to discomfort, bruising, and temperature as a result.
Sickle Cell Disease Precipitating Factors
Diseases and infections like malaria, Being subjected to extremely low temperatures, Increasing height while flying, Dehydration, Significant bleeding, Exercise that is strenuous, Emotional tension.
Defining the Types of Sickle Cell Disease
- Haemoglobin AS (Hb AS): This genetic condition is caused by the heterozygous genetic transfer of both an abnormal haemoglobin S and a normal haemoglobin A from one parent.
- Haemoglobin SC (Hb SC): One parent passes on aberrant hemoglobin S, and the other parent passes on abnormal hemoglobin C. Its signs are milder than those of sickle cell anemia.
- Sickle cell anemia, also known as hemoglobin SS (Hb SS). Two abnormal haemoglobin SS, one from each father, are the cause. The most severe type of sickle cell disorder is this one.
- Thalassaemia: This condition is inherited. This can fall into one of two categories when haemoglobin A is produced in smaller quantities without any abnormalities in the hemoglobin:
- Thalassaemia major: Also known as Cooley anemia, this severe hemolytic disease is uncommon in adults and frequently fatal in children.
- Thalassaemia minor: In this condition, the person only possesses the trait and displays lesser symptoms.
Clinical Signs Of Sickle Cell Illness
- Joint and bone discomfort is brought on by sickle-shaped cells occluding the capillaries at the joint.
- Abdominal pains, which are frequent in the spleenic area; the spleen’s enlargement is the cause of these.
- Anorexia, which is brought on by oral bitterness.
- Dehydration – caused by inadequate water consumption and excessive blood loss.
- Growth retardation, which occurs when the body’s tissues receive less blood than they need to expand
- Pallor – a result of increased red blood cell oxidation.
- Short torso, long and thin legs because the bone marrow in the long bones is overactive.
- Low hemoglobin levels (6g/dl to 8g/dl) brought on by excessive red blood cell apoptosis.
- Postpone sexual maturation, particularly in men.
- Hepatomegaly caused by the liver’s massive accumulation of sickle cells.
- Splenomegaly brought on by the buildup of sickle cells in the spleen while trying to kill them.
- Fever brought on by malaria parasite infestation.
- Weakness resulting from a drop in blood flow.
- Dizziness brought on by low blood pressure.
Sickle Cell Crisis
is a very painful condition that affects sickle cell patients and is brought on by hemolysis brought on by tissue hypoxia and depletion.
Types of Sickle Cell Crisis
- Haemolytic Crisis
- Adiposity Crisis
- Splenic Sequestration Crisis
- Vaso Occlusive Crisis
These hemoglobin levels are falling quickly and acutely. The red blood cells degrade more quickly. Patients with concurrent G6PD loss frequently experience it. Blood transfusions are used for treatment.
A parvovirus infection results in the bone marrow abruptly ceasing to produce red blood cells to replace the ones lost in a person with sickle cell disease, resulting in sudden and serious anemia.As a result, the patient exhibits signs and symptoms like pallor, exhaustion, and shortness of breath. The bone marrow typically recovers on its own 5 to 10 days after a crisis begins. As a result, the production of red blood cells resumes at its regular pace.
Crisis of Splenic Sequestration
Narrowed blood vessels and the removal of damaged red blood cells, which typically impact the spleen, cause splenic sequestration crisis. This is a severely excruciating splenic enlargement. When the sinusoids and gates opened simultaneously, blood would suddenly pool in the spleen and a circulatory defect would cause abrupt hypovolemias. Bloated and very firmness develops in the belly. Splenic sequestration problem is regarded as an urgent situation. Patients may pass away within 1-2 hours if untreated due to circulatory failure. The management is helpful, and blood transfusions are occasionally used.
Occlusive Vaso Crisis
This typically happens when sickle cells accumulate and clog capillaries, restricting blood movement to distant tissues and organs. The areas most commonly impacted are the joints and the limbs. Organ damage, ischemia, and discomfort are the results of this. The person exhibits priapism, hepatic dysfunction, distal ischemia and infarction, stomach pain, joint pain, and priapism.
Investigations for diagnosing
- A full blood count will show the haemoglobin and reticulocyte levels, with a value of 6 to 8 g/dl for hemoglobin.
- Haemoglobin electrophoresis: to identify aberrant hemoglobin and reveal a person’s status as having sickle cell disease or the sickle cell trait.
- Taking a blood sample from the uterus to identify a baby’ chromosomal defect through amnocentesis and gene mapping.
- A sickle cell test is used to find sickle cells or cells with an abnormal structure in the body.
- A bone’s X-ray will show deceased red blood cells that have accumulated in the joints.
- Both of your parents have a sickling gene background.
Individualized Medical Management
There is no known treatment for or lasting cure for sickle cell disease, but there are basic preventive and supportive measures that can be used as a form of medication to help lessen the likelihood of crises and the complications they cause when the person is exposed to the predisposing factors. Emphasis was put on the prevention, early discovery and prompt treatment of infection.
In order to keep normal blood volume, hydrate the patient if they are dehydrated.
In order to reduce the likelihood of pneumococcal infection in infants, pneumovax, a pneumococcal vaccine, is also administered as a preventative measure.
Phenoxymethyl-Penicillin is administered to sickle cell anemia patients as a preventative antibiotic. Infection-related morbidity and death are decreased as a result.
If typical dietary levels are insufficient for the production of red blood cells, take a daily 5mg folic acid supplement to replenish the foliate stores that were depleted during hemolysis.
In order to increase the patient’s red blood cell count when sickle cell crisis happens frequently and they are anemic, blood transfusions are required.
In times of crisis, painkillers and sedatives are administered to lessen its intensity and length.
If a patient exhibits hypoxia, oxygen is given.
Management of nursing
Rest and Sleep
- Nurse patient in a quiet and well ventilated environment
- Put patient in a preferred position where she will be comfortable
- Restrict visitors when patient is asleep.
- Avoid unnecessary interruption by performing all nursing activities together.
- Administer prescribed analgesics for the pain and sedatives to relax the muscles for sleep.
- Assist patient to assume a comfortable position.
- Nurse patient in a warmed bed
- Apply warm compress on the affected joint to relieve pain.
- Assist patient in using the affected site in passive exercise.
- Provide a diversion therapy for patient, example; engaging patient in a conversation.
- Massage joint with ointment to give patient relief.
- Serve prescribed analgesics to relieve pain.
- Serve copious fluid about 2 to 3 liters a day to prevent dehydration.
- Serve highly nutritious diet, rich in protein, iron, vitamins and folic acid to enhance red blood cell production.
- Serve fruits which are rich in vitamin C to boost the immune system.
- Include patient in planning his/her diet.
- Food should be served in an attractive manner.
- Where patient cannot tolerate oral feed, serve prescribed intravenous fluids.
- Assess patient’s level of pain using exhibiting characteristics such as rapid pulse
- Monitor patient’s temperature, pulse, respiration and blood pressure four hourly and record.
- Monitor intake and output regularly.
- Monitor patient for signs of complications such as jaundice
- Give patient warm bath to reduce pain and prevent severity of condition.
- Assist patient to perform oral hygiene twice daily.
- Trim patients nail if grown and encourage her to keep them neat to prevent infection
- Encourage patient to empty bowel when there is the urge.
- Encourage patient to take in more roughage to prevent constipation.
- Encourage patient to take in more fluid to enhance free bowel movement.
Health Promotion and Prevention
- Inform the patient and their family about sickle cell disease, in particular the causes and safeguards.
- Educate patient on risk factors of sickle cell crisis
- Inform the patient’s family and friends about the necessity of genetic counseling prior to marriage in order to select a spouse who has a good sickle status.
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- Inform the patient’s relatives about the value of routine checkups.
- Inform the sufferer and family about how to handle minor crises at home.
- Inform the patient and family about the value of keeping comfortable, getting enough water, and avoiding infections in order to avoid emergencies.
- Inform the patient of the importance of taking her medicine as directed.
There is a need to eduate, but we must be patient.
Effects Of Sickle Cell Disease Complications
- Pulmonary hypertension: This is brought on by the lungs’ effort to pump blood to the heart.
- Priapism: This occurs when blood builds up in the arteries of the penis.
- Heart failure: This occurs when the heart does not receive enough blood to operate normally.
- Stroke/cerebrovascular accident: This occurs when the brain receives insufficient fresh blood.
- Renal failure: This happens when the kidneys don’t get enough blood to operate normally.
- Anaemia: This condition results from a high rate of red blood cell oxidation in the blood.
- Jaundice: This is brought on by too much bilirubin being circulating as a result of too much RBC breakdown.
- Leg ulcers: this are brought on by inadequate blood flow to the tissues in the affected limb.
- Hepatomegaly: caused by the liver’s abnormal buildup of sickle cells that have been broken down.
- Splenomegaly: caused by the spleen’s excessive activity in dissolving sickled RBCs.
- Osteomyelitis: this condition develops when a bone becomes infected.
- Ischemia: a condition caused by a decrease in blood flow to the body’s essential systems.