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Sickle Cell Disease

Sickle Cell Anemia

Sickle cell disease (sickle cell anemia, drepanocytosis) is an autosomal recessive blood disorder, characterized by sickle-shaped erythrocytes.

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Presentation

Chronic anemia is present in all individuals with sickle cell disease. It is generally asymptomatic, though patients report chronic fatigue and exercise intolerance. Vaso-obstruction and pain are the major presenting symptoms of the disease. The precipitating cause of the vaso-occlusive crisis is often not clear but include the following [5]:

  • Hypoxia
  • Infection
  • Dehydration
  • Acidosis
  • Emotional stress
  • Extremes in environmental temperature
  • Pregnancy
  • Alcohol ingestion

Mandatory neonatal screening in the United States identifies new cases. Symptoms do not occur in the first 6 months of life because of the persistence of fetal hemoglobin (HbF). After 6 months of age as fetal hemoglobin levels decrease and the percentage of sickle hemoglobin increases, symptoms begin to appear. Hand and foot syndrome is often the presenting sign (6 mo.-5 yr.). The bone marrow of the small bones of the hands and feet is very active in infancy and early childhood. This activity level increases the risk of ischemia and infarct. It results in acute swelling, erythema, and severe pain of the hands and feet. Onset is sudden and duration short [6].

Splenomegaly
  • In two mouse SCD models, Berkeley and SAD, inhibition of red blood cell dehydration and sickling was achieved with correction of hematological parameters, splenomegaly, and prevention of the characteristic urine concentration defect.[ncbi.nlm.nih.gov]
  • In two mouse SCD models, Berkeley and SAD, inhibition of red blood cell dehydration and sickling was achieved with correction of hematological parameters, splenomegaly, and prevention of the characteristic urine concentration defect. * To whom correspondence[doi.org]
  • A high index of suspicion is therefore required for the diagnosis of such cases in a nonendemic area like Delhi specifically in patients who presented with unexplained anemia and splenomegaly with or without pain abdomen.[doi.org]
  • […] risk of splenic complications such as sequestration crisis, chronic hypersplenism, splenic infarction and abscess, trauma, and rupture, and 20% required splenectomy. 30, 31 In the Western province, the frequency of splenomegaly is significantly less[doi.org]
  • In patients with SCD, the spleen can become enlarged (splenomegaly) as it traps red blood cells that should be in the bloodstream.[rarediseases.org]
Pain
  • Tools to assess pain can be of use not only to guide pain treatment but also to provide insight into underlying pain neurobiology. Mechanisms of pain in SCD are multifactorial and are not completely elucidated.[ncbi.nlm.nih.gov]
  • […] management of chronic pain.[ncbi.nlm.nih.gov]
  • We report an adolescent patient with sickle cell whose pain symptoms progressed from having recurrent acute sickle cell pain crisis episodes to a chronic pain syndrome over several years.[ncbi.nlm.nih.gov]
  • In addition to episodic acute pain, patients with SCD also report chronic pain. Current treatment of moderate to severe pain in SCD is mostly reliant upon opioids; however, long-term use of opioids is associated with multiple side effects.[ncbi.nlm.nih.gov]
  • SCD. 2015 World Institute of Pain.[ncbi.nlm.nih.gov]
Anemia
  • In the United States, it's estimated that sickle cell anemia affects 70,000–100,000 people, mainly African Americans. The most common signs and symptoms of sickle cell anemia are linked to anemia and pain.[web.archive.org]
  • anemia is a disease in which your body produces abnormally shaped red blood cells.[icd9data.com]
  • In order for you or your child to inherit sickle cell anemia, both parents must have either sickle cell anemia (two sickle cell genes) or sickle cell trait (one sickle cell gene); read more about sickle cell trait here.[web.archive.org]
  • Survival time for patients with sickle cell anemia after the diagnosis of sickle renal failure, despite dialysis, was 4 years, and the median age at the time of death was 27 years.[ncbi.nlm.nih.gov]
  • Objective: To determine the incidence, clinical course, and risk factors associated with the onset of chronic renal failure in sickle cell anemia and sickle C disease.[doi.org]
Fever
  • We determined practice variation for children with SCD presenting with fever to the emergency department (ED).[ncbi.nlm.nih.gov]
  • CONCLUSION: Children with SCD presenting to the ED with fever and shortness of breath, tachypnea, cough, rales, or chest pain should receive a CXR due to high ACS rates.[ncbi.nlm.nih.gov]
  • He had extremely high levels of conjugated bilirubin but no fever. This is the youngest known reported patient with eccrine chromhidrosis and the first in a patient with sickle cell disease. 2017 Wiley Periodicals, Inc.[ncbi.nlm.nih.gov]
  • RESULTS: A 30-year-old man with complicated sickle cell disease presented with pain, fever, and hypoxia.[ncbi.nlm.nih.gov]
  • A 13-month-old boy with sickle cell disease (SCD) from Equatorial Guinea, who had recently arrived in Spain, presented with fever. He had suffered from malaria and had received a blood transfusion.[ncbi.nlm.nih.gov]
Fatigue
  • Sickled cells lose their normal functioning and hemodynamic properties, leading to chronic fatigue as well as to episodes of painful crises.[ncbi.nlm.nih.gov]
  • Abstract We present the case of a 7-year-old Cameroonian girl with sickle cell disease (SCD) who presented with progressive abdominal distension, fever, severe anemia, respiratory distress, and fatigue.[ncbi.nlm.nih.gov]
  • People who have sickle cell disease may also have trouble coping with pain and fatigue, as well as with frequent medical visits and hospitalizations.[nhlbi.nih.gov]
Severe Pain
  • Abstract Patients with sickle-cell disease (SCD) can experience recurrent vaso-occlusive episodes (VOEs), which are associated with severe pain.[ncbi.nlm.nih.gov]
  • The Phase IIB (pivotal) trial suggests that Niprisan was effective in reducing episodes of severe painful sickle cell disease crisis over a six-month period (low-quality evidence).[ncbi.nlm.nih.gov]
  • Current treatment of moderate to severe pain in SCD is mostly reliant upon opioids; however, long-term use of opioids is associated with multiple side effects.[ncbi.nlm.nih.gov]
  • They may include severe pain, anemia, organ damage, and infections. How is sickle cell disease diagnosed? A blood test can show if you have SCD or sickle cell trait.[nlm.nih.gov]
  • All therapeutic amputations were for severely painful, large, recalcitrant leg ulcers that failed non-interventional therapies. Amputation resulted in pain relief and better quality of life.[ncbi.nlm.nih.gov]
Dyspnea
  • Patient case: An 18-year-old male patient with homozygous hemoglobin SS disease was evaluated for progressive dyspnea and elevated tricuspid regurgitant jet velocity (TRV) on echocardiography.[ncbi.nlm.nih.gov]
  • Major dyspnea, hemodynamic distress and fever were noted on physical examination. Biological tests exploring anaemia revealed Haemoglobin (Hb) S levels of 39.1%.[ncbi.nlm.nih.gov]
  • Acute chest syndrome: Inquire about shortness of breath or dyspnea, fever, and cough. Stroke: Ask about aphasia, paresthesias, limb weakness, and change of level of consciousness.[web.archive.org]
  • Echocardiography should be performed on all patients with dyspnea. The goal of treatment is two-fold; symptom control and prevention and management of complications.[symptoma.com]
  • Hypoxemia may develop rapidly, causing dyspnea. DNA testing (prenatal diagnosis) Peripheral smear Solubility testing Hemoglobin electrophoresis (or thin-layer isoelectric focusing) The type of testing done depends on the age of the patient.[msdmanuals.com]
Abdominal Pain
  • The most common were abdominal pain (24.5%), diarrhea (8.0%), and nausea (7.8%). AEs were predominantly transient and mild to moderate in nature.[ncbi.nlm.nih.gov]
  • Common side effects of Endari include constipation, nausea, headache, abdominal pain, cough, pain in the extremities, back pain and chest pain.[fda.gov]
  • When the anemia becomes more severe, symptoms may include: Fatigue Paleness Rapid heart rate Shortness of breath Yellowing of the eyes and skin ( jaundice ) Younger children with sickle cell disease have attacks of abdominal pain.[medlineplus.gov]
Severe Abdominal Pain
  • Go to a hospital's emergency department if these conditions develop: Uncontrollable pain even with the use of narcotics Continued loss of fluid leading to dehydration (if vomiting) Uncontrollable fever Chest pain or shortness of breath Severe abdominal[emedicinehealth.com]
  • Severe abdominal pain may develop with or without vomiting and is usually accompanied by back and joint pain. Acute chest syndrome is characterized by sudden onset of fever, chest pain, and pulmonary infiltrates. It may follow bacterial pneumonia.[msdmanuals.com]
  • Other serious warning signs that signal a need for immediate medical treatment are: Pain that doesn’t go away with home treatment Severe abdominal pain (stomachache) or swollen belly Chest pain Sudden vision problems Headache that’s different from usual[med.umich.edu]
Acute Abdomen
  • Abdominal pain can be severe, resembling acute abdomen; it may result from referred pain from other sites or intra-abdominal solid organ or soft tissue infarction. Reactive ileus leads to intestinal distention and pain.[emedicine.medscape.com]
  • Pain crisis can involve the abdomen, bones, joints, and soft tissue, and it may present as dactylitis (bilateral painful and swollen hands and/or feet in children), acute joint necrosis, or acute abdomen. 4 With repeated episodes in the spleen, infarctions[web.archive.org]
Chest Pain
  • CONCLUSION: Children with SCD presenting to the ED with fever and shortness of breath, tachypnea, cough, rales, or chest pain should receive a CXR due to high ACS rates.[ncbi.nlm.nih.gov]
  • We highlight the need to include pulmonary embolism in the differential diagnosis of all sickle cell patients complaining of chest pain.[ncbi.nlm.nih.gov]
  • Common side effects of Endari include constipation, nausea, headache, abdominal pain, cough, pain in the extremities, back pain and chest pain.[fda.gov]
  • Signs include chest pain, coughing, trouble breathing, and fever. Aplastic crisis: This is when the body temporarily does not make enough red blood cells, and can cause severe anemia. Signs include paleness, extreme tiredness, and a fast heartbeat.[kidshealth.org]
Tachycardia
  • […] dose, if possible) and folic acid Surgical history (helps rule out other causes of abdominal pain) Previous hemoglobin levels and previous transfusions Vaccination Consanguinity, family history of similar episodes Physical Vital signs Hypotension and tachycardia[web.archive.org]
Jaundice
  • Jaundice, or yellowing of the skin, eyes, and mouth. Jaundice is a common sign and symptom of sickle disease. Sickle cells do not live as long as normal red blood cells and, therefore, they are dying faster than the liver can filter them out.[hopkinsmedicine.org]
  • People always have anemia and sometimes jaundice. Worsening anemia, fever, and shortness of breath with pain in the long bones, abdomen, and chest can indicate sickle cell crisis.[merckmanuals.com]
  • Early symptoms of SCD may include Painful swelling of the hands and feet Fatigue or fussiness from anemia A yellowish color of the skin ( jaundice ) or the whites of the eyes (icterus) The effects of SCD vary from person to person and can change over[nlm.nih.gov]
  • […] inheriting one gene mutation and a genetic carrier of SCD. 25% risk of inheriting no gene mutation and unaffected by SCD Signs and Symptoms Most individuals will begin to develop symptoms in early childhood, such as: Anemia Frequent infections Pain episodes Jaundice[news-medical.net]
Hepatomegaly
  • Additional autopsy findings included cardiomegaly with a heart weight of 450 gm (312 78), right atrial and right ventricular chamber dilatation, and hepatomegaly with a liver weight of 2650 gm (1475 362).[ncbi.nlm.nih.gov]
  • Hepatomegaly was seen in 28.6% of the subjects. On evaluation of the hematological parameters, hemoglobin of SCD constitutes amongst the commonest of the hemoglobinopathies, reported from the Indian subcontinent with varied incidence.[doi.org]
Scleral Icterus
  • Enlarged liver, with jaundice and yellowing of the whites of the eyes (scleral icterus) Marked enlargement of bone marrow and possible significant deformities of some bones actively involved in producing red blood cells Other complications of sickle cell[labtestsonline.org]
Arthritis
  • The major orthopaedic manifestations of SCD are osteonecrosis, osteomyelitis, septic arthritis, and bone infarction. Patients with SCD require close monitoring in the perioperative period because of the risk for vasoocclusive crisis.[ncbi.nlm.nih.gov]
  • The inflammation from dactylitis and arthritis can be reduced by anti-inflammation medications, such as ibuprofen and aspirin.[medicinenet.com]
  • Joint pain that resembles arthritis. Life-threatening infections. Anemia (decrease in red blood cells). Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission.[my.clevelandclinic.org]
Hip Pain
  • There was no significant statistical difference between groups regarding major complications (hip pain, risk ratio 0.95 (95% confidence interval 0.56 to 1.60; vaso-occlusive crises, risk ratio 1.14 (95% confidence interval 0.72 to 1.80; very low quality[ncbi.nlm.nih.gov]
  • Hip pain may result from avascular necrosis of the femoral head. Severe abdominal pain may develop with or without vomiting and is usually accompanied by back and joint pain.[msdmanuals.com]
Hematuria
  • These findings are illustrated with a case of a 9-year old girl with sickle cell disease who was referred with painless gross hematuria.[ncbi.nlm.nih.gov]
  • Case-control analysis showed that ineffective erythropoiesis with increasingly severe anemia, hypertension, proteinuria, the nephrotic syndrome, and microscopic hematuria were significant pre-azotemic predictors of chronic renal failure.[ncbi.nlm.nih.gov]
  • Infections: Ask about, fever, cough, neck stiffness and severe headache (concerning for meningitis), and urinary symptoms (polyuria, hematuria, dysuria). Acute chest syndrome: Inquire about shortness of breath or dyspnea, fever, and cough.[web.archive.org]
  • Unilateral hematuria (by unknown mechanisms and usually from the left kidney) can occur but is self-limited.[msdmanuals.com]
Stroke
  • Childhood ischemic stroke is attributed to vasculopathy with moyamoya syndrome. Hemorrhagic stroke is commonly attributed to aneurysms accompanying HbSS cerebral vasculopathy in SCD.[ncbi.nlm.nih.gov]
  • […] and the risk of recurrent stroke.[ncbi.nlm.nih.gov]
  • Fourteen patients (93.3%) had strokes before diagnosis of MMS, with an average age at first stroke of 6.6 3.9 years.[ncbi.nlm.nih.gov]
  • No cases of stroke occurred in the PPG. In the SPG, one patient with a history of stroke and severe cerebrovascular disease had a recurrence after 11 yr of chronic transfusion, when the HbS level was 20%.[oadoi.org]
Headache
  • Two patients presented with headache (28.6%), while the rest had no neurologic symptoms at presentation. Four patients required urgent neurosurgical intervention (57.1%) and one patient died (14.3%).[ncbi.nlm.nih.gov]
  • Common side effects of Endari include constipation, nausea, headache, abdominal pain, cough, pain in the extremities, back pain and chest pain.[fda.gov]
  • Signs can include headache, , weakness of the arms and legs, speech problems, a facial droop, or loss of consciousness.[kidshealth.org]
  • Signs can include headache,, weakness of the arms and legs, speech problems, a facial droop, or loss of consciousness.[kidshealth.org]
Dizziness
  • One patient became profoundly deaf after an acute episode of dizziness. Imaging indicated bilateral cochlear ossification, making subsequent cochlear implant surgery challenging.[ncbi.nlm.nih.gov]
  • Signs of anemia include: paleness, often seen in the skin, lips, or nailbeds tiredness dizziness being short of breath feeling lightheaded being irritable trouble paying attention a fast heartbeat People with sickle cell anemia may have jaundice (skin[kidshealth.org]
  • Symptoms can vary in form and severity, depending on patient, but typically include Serious pain Fatigue Shortness of breath Headaches Dizziness How Is Sickle Cell Disease Diagnosed? Sickle cell disease is diagnosed by a blood test.[pfizer.com]
  • Additional symptoms of this include: headaches, rapid heartbeat, dizziness and fainting due to a lack of oxygen through the body.[thesun.co.uk]

Workup

A complete history and review of symptoms should be completed at each visit. This should include the history of:

  • Infection and exposure to infection
  • Pain (frequency, duration, location, severity, medication)
  • Adherence to the medication regime, efficacy, and side effects
  • Difficulty or interference with activities of daily living
  • Emotional status and support systems

Physical exam

A comprehensive physical examination should pay particular attention to indicators of vaso-obstruction and infection, as well as evidence of complications of the disease.

Management

Diagnosis of sickle cell disease is confirmed by the presence of homozygous HbS through hemoglobin electrophoresis. The presence of heterozygous HbS indicates a carrier of the sickle cell trait. Prenatal diagnosis may be made using DNA analysis with chorionic villus sampling at 8 to 12 weeks gestation or amniotic fluid testing at 6 weeks gestation.

Baseline blood studies should be done on all patients. Management of sickle cell disease should include regular routine blood work. The following schedule is suggested [7]:

  • CBC (WBC, diff, reticulocyte count): Every 3 month
  • Percentage of HbF: Annually
  • Renal function (BUN, creatinine, urinalysis): Annually
  • Secretory phospholipase A2: Every 3 month (in infancy)

Other suggested testing:

  • Pulmonary function test (PFT): Every 6 month
  • Transdoppler ultrasound (TCD): Annually - abnormal results repeat within 2-4 weeks (Transdoppler ultrasound measures cerebral blood flow and is a good predictor of stroke risk [6])

Imaging

Magnetic resonance imaging (MRI) is the best method for detecting early signs of osteonecrosis and osteomyelitis. It can distinguish between osteomyelitis and bony infarction and can detect changes in the bone marrow early. It can also identify the presence of silent cerebral infarcts, helpful for stroke prevention [6]. An abdominal ultrasound should be used whenever patients present with abdominal pain to rule out cholecystitis, cholelithiasis, or ectopic pregnancy. Routinely the procedure can be used to measure and monitor spleen and liver size [7]. Ultrasonography of the kidneys can detect causes of obstructive uropathy, nephrolithiasis, and papillary necrosis. Echocardiograms can identify pulmonary hypertension. Adults should be tested annually. Echocardiography should be performed on all patients with dyspnea [7].

Reticulocytes Increased
  • With each course, fetal reticulocytes increased within 48-72 h, peaked in 7-11 d, and fell by 18-21 d. In patient I, fetal reticulocytes increased from 16.0 /- 2.0% to peaks of 37.7 /- 1.2, 40.0 /- 2.0, and 32.0 /- 1.4% in three successive courses.[doi.org]
Hemoglobin Decreased
  • A reticulocyte count 1% suggests aplastic crisis, particularly when hemoglobin decreases below the patient’s usual level.[msdmanuals.com]

Treatment

The goal of treatment is two-fold; symptom control and prevention and management of complications. Treatment is aimed at [7]:

  • Decreasing the number and frequency of vaso-obstructive crises
  • Controlling chronic pain
  • Management of chronic hemolytic anemia
  • Prevention and treatment of pulmonary hypertension
  • Prevention and treatment of infarcts
  • Prevention and management of organ damage
  • Identification of stroke risk and prevention of acute episodes

Routine immunizations

Pneumococcal pneumonia vaccine is of greatest importance as pneumococcal pneumonia is a leading cause of morbidity and mortality in individuals with sickle cell disease. Recommended vaccines are:

  • Routinely scheduled childhood/adult vaccinations
  • Influenza
  • Meningococcal vaccine
  • Pneumococcal conjugate vaccine (PCV7) or pneumococcal polysaccharide vaccine (PPV23)


Medications

Hydroxyurea therapy: Hydroxyurea is currently the only drug approved by the US Food and Drug Administration for the treatment of sickle cell disease. It increases the total fetal hemoglobin which retards the formation of polymers and sickling of red blood cells. It also reduces circulating leukocytes, decreasing inflammation [8]. Hydroxyurea therapy has proven to decrease the frequency and severity of crises. It has been shown to reduce the number of hospitalizations and to limit the need for transfusions. Patients should be monitored for leukopenia and thrombocytopenia. Complications from long-term usage are not yet known. Efficacy in children has not been proven.

Other medications used in controlling symptoms include:

  • Opioid analgesics are given to control acute pain crises. Morphine sulfate is the recommended drug.
  • Non-narcotic analgesics may be effective in combination with opioids. These include ketorolac, aspirin, acetaminophen, and non-steroidal anti-inflammatory drugs.
  • Antibiotics are used to treat infections. The antibiotic of choice is dependent on the causative agent. Prophylactic penicillin helps to prevent the occurrence of pneumonia.
  • Vitamins: Individuals with sickle cell disease need additional folic acid.
  • Bronchodilators are used for the treatment of acute chest syndrome

Non-pharmacologic therapy

Vigorous hydration is needed to prevent acidosis, maintain circulating volume, and prevent venous stasis. This intervention decreases the incidence of sickling episodes. There are no dietary restrictions associated with the disease. However, a well-balanced diet is essential to maintaining health and preventing infection.

Oxygen therapy may be necessary during acute episodes to prevent hypoxia. It is not recommended for routine use to treat chronic anemia. It is imperative in acute chest syndrome, congestive heart failure and severe pneumonia. Incentive spirometry may be helpful in patients with respiratory complications or acute respiratory illness.

Transfusions are reserved for the treatment of sudden severe anemia due to acute splenic sequestration, para-virus B19 infection, hyper-hemolytic crises, and acute chest syndrome. They are also necessary peri-operatively and during pregnancy. Complications of transfusions include:

  • Alloimmunization – an adverse reaction to differences in minor red blood cell antigens between donor and recipient.
  • Infection
  • Iron overload – inevitably occurs with recurrent transfusions and can lead to heart failure and embolism. It must be treated with chelating agents to remove excessive iron [9].

Erythrocytaphoresis is an automated red blood cell exchange procedure. The process exchanges blood containing HbS while replacing it with HbS free blood [8].

Alternative therapies that may be of help in the control of chronic pain include:

  • Physical therapy
  • Heat and cold application
  • Acupuncture and acupressure

Bone marrow transplantation can be a cure for sickle cell disease. After the destruction of defective HbS bone marrow with radiation or chemotherapy, normal bone marrow replaces it. The use of this therapy is limited because it requires a matching sibling donor who is free of the disease or trait.

Stem cell transplantation is still experimental but has hopes of being a more realistic cure for the disease.

Prognosis

Sickle cell disease is a life–long progressive disorder marked by episodic vaso-obstructive crises resulting in chronic morbidity and early mortality. Morbidity varies from individual to individual. Symptomatology and complications increase with age. Life expectancy has been extended in the past twenty years and is now estimated to be >50 years. This change is due to the development of the vaccine for pneumococcal pneumonia, increasing use of Hydroxyurea therapy, and improved monitoring and control of complications [3].

Etiology

Sickle cell disease originated in West Africa where it has the highest prevalence still. Through migration and dispersion, the genetic mutation spread and is now seen worldwide. The distribution is related to the collocation of endemic malaria and sickle cell disease. The heterozygous form (Sickle cell trait) seems to have Malaria inhibiting qualities. Individuals who carry the HbS trait have a lower incidence and severity of the disease.

Epidemiology

The incidence rate for sickle cell disease in the United States is approximately 8,000 annually or 1 per 500 African American births [4]. Prevalence is about 72,000 Americans. While 2 million people or 1 in 12 African Americans carry the sickle cell genetic trait.

Sex distribution
Age distribution

Pathophysiology

Sickle cell disease arises from a gene mutation which substitutes thymine for adenine on the 6th beta-globin chain of the hemoglobin molecule (GAG to GTG) [2]. The resulting sickle hemoglobin (HbS) forms a gel-like polymer when deoxygenated. This polymer gradually forms parallel filament strands which cause the red blood cells to sickle. Sickled cells have antigen-4 (VLA-4) on their surfaces which causes them to adhere to the vascular endothelium obstructing the microvasculature.

Vaso-obstruction is responsible for the symptoms and complications associated with the disease [2]. Inflammation of the endothelium occurs secondary to ischemia. There is a sudden influx of leukocytes to the area causing swelling, narrowing and eventual obstruction of the microvasculature. Acute pain crises are a directed result of ischemia and infarct of tissues and organs following an acute vaso-obstructive episode. Deprived of oxygen, cells in the affected area are damaged. Inflammation, swelling, erythema, and eventually necrosis occur.

Prevention

There are no guidelines for prevention of sickle cell disease.

Summary

Sickle cell disease is an autosomal recessive hemolytic anemia. It is a genetic disorder affecting primarily Africans (African Americans) [1]. It is the most common genetic blood disorder in the United States. Sickle cell disease is caused by a mutation of the gene responsible for hemoglobin production. Red blood cells carrying the defective hemoglobin (HbS) change shape when deoxygenated forming the characteristic sickle shape. These cells become ridge and friable, leading to increased hemolysis. This alteration in the red blood cells is responsible for the major symptoms and complications of the disease.

The cardinal signs of sickle cell disease are [2]:

  • Chronic hemolytic anemia
  • Severe acute and/or chronic pain
  • Increased susceptibility to infection
  • Recurrent episodic vaso-obstructive crises

Additional symptoms:

  • Hand-foot syndrome
  • Priapism
  • Leg ulcers
  • Acute chest syndrome
  • Acute bone pain crises
  • Splenic sequestration
  • Aplastic anemia crises
  • Growth retardation
  • Central nervous system involvement
  • Stroke
  • Focal neurologic deficits
  • Ophthalmic involvement
  • Ptosis
  • Retinal hemorrhage
  • Vision loss
  • Cardiac involvement
  • Dilation of both ventricles and left atrium
  • Congestive heart failure
  • Cholelithiasis and/or cholangitis
  • Nephropathology
  • Liver involvement

Patient Information

What is sickle cell disease?

Sickle cell disease is an inherited/genetic disorder that affects the body’s red blood cells. It is passed from both parents who carry the sickle cell trait to their child. In this disease, defective hemoglobin, which carries oxygen in the blood, causes the red blood cells to change shape into the characteristic sickle shape.

Normal red blood cells are round and are able to move through small blood vessels in the body to deliver oxygen. The sickle-shaped cells are rigid and adhere to the walls of the small blood vessels. The defective red blood cells obstruct the vessels and clog the flow of blood and oxygen to the tissues and organs of the body.

Sickle cell disease is found most often in African-Americans and Africans. However, other ethnic groups can have sickle cell disease.

Sickle cell disease is diagnosed by hemoglobin electrophoresis, which determines the type of hemoglobin one has.
People who inherit only one sickle cell gene are carriers, but people who inherit two sickle cell genes have sickle cell disease.

What are the symptoms of sickle cell disease?

Newborn screening in the United States identifies babies with the disease at that time. In those individuals who have not been identified at birth, the following symptoms might indicate the need for testing for the disease.

  • Chronic anemia with associated fatigue and exercise intolerance.
  • Acute or chronic episodes of pain which can occur in any part of the body.
  • Swelling and inflammation of the long bones and joints.
  • Enlargement and tenderness of the spleen and live.

What are the medical problems of sickle cell disease?

Medical problems associated with sickle cell disease include:

  • Respiratory illness known as acute chest syndrome
  • Pain episodes due to ischemia, lack of oxygen supply, of tissues and organs
  • Stroke resulting from blockage of blood supply to the brain
  • Priapism, a persistent, painful, erection that lasts for more than four hours
  • Increased susceptibility to infections
  • Damage to any organ of the body and to bones and joints

How is sickle cell disease treated?

Currently, there is no cure for sickle cell disease. Treatment of sickle cell disease depends upon the symptoms a person is experiencing. Some medicines that can be used to treat sickle cell disease-related pain include:

  • Pain medications, including opioids and anti-inflammatory medicines
  • Antibiotics
  • Hydroxyurea (e.g., Hydrea and Droxia)
  • Iron overload therapy
  • Tricyclic antidepressants such as amitriptyline
  • Anticonvulsants such as gabapentin

New treatments for sickle cell disease are improving life expectancy and quality of life.

What can you do to prevent complications of the disease?

If you or a member of your family has sickle cell disease you can go a long way toward preventing the complications associated with the disease. The following guidelines are important.

  • Stay well hydrated – Dehydration can be a trigger that causes acute sickling episodes.
  • Contact your healthcare provider immediately if you have any symptoms of infection.
  • Get routine and preventive health care, including immunizations.
  • Get emergency healthcare for severe chest pain, difficulty breathing, or signs of a stroke (confusion, numbness, paralysis, or loss of consciousness).
  • Take medications as ordered and report any adverse effects.
  • Avoid alcohol, non-prescription drugs, and over-exertion.

References

Article

  1. Taber’s Online Medical Dictionary, accessed Jan. 24, 2014
  2. Chiang EY, Frenette PS. Sickle cell vaso-occlusion. Hematol Oncol Clin North Am. Oct 2005;19(5):771-84, v.
  3. Platt OS, Brambilla DJ, Rosse WF, et al. Mortality in sickle cell disease. Life expectancy and risk factors for early death. N Engl J Med. Jun 9 1994;330(23):1639-44.
  4. National Institutes of Health. Introduction to Genes and Disease: Anemia, Sickle Cell. National Center for Biotechnology Information. Accessed Jan 20, 2014.
  5. Zen Q, Batchvarova M, Twyman CA, et al. B-CAM/LU expression and the role of B-CAM/LU activation in binding of low- and high-density red cells to laminin in sickle cell disease. Am J Hematol. Feb 2004;75(2):63-72.
  6. Miller ST, Sleeper LA, Pegelow CH, et al. Prediction of adverse outcomes in children with sickle cell disease. N Engl J Med. Jan 13 2000;342(2):83-9
  7. Rees DC, Olujohungbe AD, Parker NE, Stephens AD, Telfer P, Wright J. Guidelines for the management of the acute painful crisis in sickle cell disease. Br J Haematol. Mar 2003;120(5):744-52.
  8. Adams RJ, Brambilla D. Discontinuing prophylactic transfusions used to prevent stroke in sickle cell disease. N Engl J Med. Dec 29 2005;353(26):2769-78.
  9. Rienhoff HY Jr, Viprakasit V, Tay L, et al. A phase 1 dose-escalation study: safety, tolerability, and pharmacokinetics of FBS0701, a novel oral iron chelator for the treatment of transfusional iron overload. Haematologica. Apr 2011;96(4):521-5.

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Last updated: 2019-06-04 11:23