Sickle Cell Anemia

Aka: Sickle Cell Anemia, Sickle Cell Trait, Sickle Cell Disease, Sickle Cell Disorder, Sickle Hemoglobin

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II. Epidemiology

  1. Sickle Cell Disease (Sickle Cell Anemia)
    1. Prevalence (U.S.): 100,000 (1 per 365 to 500 black or african american descent)
    2. From 2500 to 3000 children born per year with Sickle Cell Anemia in the United States
  2. Sickle Cell Trait (A/S) Incidence
    1. Americans of African Descent: 1 in 12
    2. Also seen in Greeks, Italians, Turks, Saudi Arabians, North Africans and hispanic patients

III. Pathophysiology

  1. Normal Hemoglobin A replaced by Hemoglobin S (Hb S)
    1. Deoxygenated Hemoglobin-S assumes a sickle shape deforming Red Blood Cells
    2. Sickling Red Blood Cells first identified in 1910 (James Herrick), and named SCA in 1922 (Verne Mason)
    3. Hemoglobin S first identified as cause of Sickle Cell Anemia by electrophoresis in 1949 (Linus Pauling)
  2. Chromosome 11 Mutation: Substitution of Amino AcidValine for Glutamic Acid
    1. Occurs at the 6th position of the Hemoglobin beta-chain
    2. Results in a "sticky" Hemoglobin that forms a rigid chain when deoxygenated
    3. Sickle cell gene is inherited in Autosomal Recessive pattern
      1. Heterozygotes have Sickle Cell Trait and Homozygotes have Sickle Cell Anemia
      2. Sickle Cell Trait is protective against Malaria, resulting in up to 40% trait Prevalence in some African regions
  3. Sickling Mechanism
    1. Deoxygenated HbS aggregates under low oxygen tension
      1. Molecules polymerize into a gelatinous network
      2. Deforms Red Blood Cells into a sickle shape
    2. Red cells with sickle shape are less deformable
      1. Results in microvascular Occlusion, ischemia and acidosis from sludging within arterioles
      2. Results in Hemolysis due to red cell fragility
  4. Mechanisms of dysfunction
    1. Hypercoagulable
      1. Sickle cells that do not reshape easily when passing through capillaries
        1. Results in decreased Blood Flow and local ischemia
      2. Clotting Cascade activation
      3. Inflammatory cascade activation
      4. Platelet activation
    2. Endothelial dysfunction
      1. Nitric oxide binds the free Hemoglobin in Sickle Cell Anemia
      2. Nitric oxide deficiency results in Vasoconstriction
    3. Decreased Red Blood Cell lifespan
      1. Fragile Red Blood Cells with decreased life span
  5. Sub-Phenotypes
    1. Vaso-occlusive Phenotype
      1. Presents with pain, increased Hemoglobin over baseline
      2. May present with Acute Chest Syndrome
    2. Hemolytic Phenotype
      1. Presents less with pain and more with profound Anemia (Hemoglobin < 6 g/dl)
      2. May present with Pulmonary Hypertension, leg ulcers and sudden death

IV. Types

  1. Sickle Cell Trait (A/S)
    1. No Anemia
    2. Hemoglobin S represents 25-40% of their Hemoglobin
    3. Under normal circumstances, RBCs do not hemolyze
  2. Sickle Cell Anemia (S/S or HbS)
    1. Initially infant's RBCs mainly contain fetal Hb F
    2. Within months the abnormal Hb S replaces the Hb F
    3. Similar manifestations with one Hb S and one Thalassemia gene (or other Hemoglobin Abnormality)
  3. Sickle Cell Anemia with Hemoglobin C (HbC)
    1. Lysine is substituted for Glutamic Acid at position 6 of the Beta chain (contrast with Valine in HbS)
    2. Similar complications as with Sickle Cell Anemia, but with a less severe course
  4. Sickle - Beta Thalassemia
    1. One HgbS and one HgbB0 (no beta chain) or HgbB+ (reduced beta chain)

V. Labs

  1. Newborn Screening identifies Hemoglobinopathies including Sickle Cell Trait and Sickle Cell Anemia
  2. Monitoring
    1. Hemoglobin
    2. Reticulocyte Count
    3. Liver Function Tests
    4. Renal Function tests
  3. Hemoglobin
    1. Chronic Anemia is due to decreased Red Blood Cell lifespan (10-20 days compared with normal 120 days)
      1. Sickle Cell Anemia patients have typically adapted to low Hemoglobin levels
      2. HgbSS or HgbSb0: 6-8 g/dl Hgb
      3. HgbSB+: 9-12 g/dl Hgb
      4. HgbSC: 10-15 g/dl Hgb
    2. Acutely worsened Anemia has several potential causes (see below)
      1. Levels below baseline frequently require Blood Transfusion
  4. Serum Creatinine
    1. Frequently lower in Sickle Cell Anemia and may underestimate renal dysfunction
    2. See screening protocol below under prevention

VI. Imaging

  1. Transcranial Doppler Ultrasound (TCD)
    1. Evaluate transcranial blood-flow velocity
    2. Start screening at age 2 years until at least age 16 years old
    3. Abnormal if TCD >200 cm/s (and marginal if 170-199 cm/s )
      1. See Cerebrovascular Accident in Sickle Cell Anemia
      2. Annual CVA risk increases by 10%
      3. Consider for prophylactic transfusions

VII. Management: General

  1. Hematopoietic Cell Transplantation
    1. Curative in 85-90% of cases
    2. Mortality: 5-10% (related to rejection, infection)
  2. Mild Pain
    1. Start with Non-Opioid Analgesics (Acetaminophen, NSAIDS) for mild pain that is not Sickle Cell Crisis
    2. Caution with NSAIDs, especially if renal dysfunction

VIII. Management: Acute presentations

  1. See Complications as below
  2. Most important initial labs in acute Sickle Cell Anemia presentations (however these do not dictate disposition)
    1. Complete Blood Count or Hemoglobin
    2. Reticulocyte Count
  3. Low Hemoglobin (>2 g/dl below baseline, see labs above)
    1. High Reticulocyte Count
      1. Reticulocyte Count is typically >5% at baseline in SCA
      2. Splenic Sequestration in Sickle Cell Anemia
        1. Age <4 years old
        2. Spleen enlarged on Bedside Ultrasound
      3. Sickle Cell Hemolytic Crisis
        1. Increased Serum Bilirubin, LDH and transaminases (AST, ALT)
      4. Gastrointestinal Bleeding
    2. Low Reticulocyte Count
      1. See below
      2. Transient Red Cell Aplasia (Parvovirus B19)
  4. Hemoglobin near baseline
    1. Cardiopulmonary signs or symptoms
      1. Obtain Chest XRay in acute chest complaints (cough, fever, Shortness of Breath)
      2. Acute Chest Syndrome
        1. Presents with fever, Chest Pain, Hypoxia, rales and Pulmonary Infiltrates
        2. Most common cause of death in Sickle Cell Anemia
    2. No cardiopulmonary findings
      1. Acute Vaso-Occlusive Episode in Sickle Cell Anemia (Sickle Cell Crisis)
        1. Consider differential diagnosis (e.g. acute Septic Arthritis, Osteomyelitis)
  5. Leukocytosis has low Test Sensitivity and Test Specificity in acute presentations
    1. Acute infection
    2. Stress induced Demargination
    3. Hematopoiesis in acute Anemia
  6. Reticulocyte Count
    1. Reticulocyte Count is normally increased to >5% in Sickle Cell Anemia
    2. Bone Marrow hypoactivity (<5%) is a red flag
      1. Reticulocyte Count 2-5%: Hypoplastic Anemia
      2. Reticulocyte Count <1%: Aplastic Crisis in Sickle Cell Anemia
  7. References
    1. Jhun, Raam and Mallemat in Herbert (2016) EM:Rap 16(6): 9-11

IX. Management: Blood Transfusion Indications

  1. Simple transfusion or exchange transfusion
  2. Acute indications
    1. Multi-organ failure syndrome
    2. Major surgical procedures (including Tonsillectomy)
    3. Cerebrovascular Accident in Sickle Cell Anemia
    4. Intrahepatic cholestasis
    5. Acute Splenic Sequestration (or hepatic sequestration) and severe Anemia
      1. Transient Red Cell Aplasia
    6. Progressive or severe Acute Chest Syndrome
      1. Hemoglobin 1 g/dl or more below baseline
      2. Hypoxia with Oxygen Saturation <90% despite Supplemental Oxygen
  3. Chronic indications (maintaining goal Hgb S at lower levels, <30%)
    1. Prevention in children at high risk of CVA
      1. See Cerebrovascular Accident in Sickle Cell Anemia
    2. Pulmonary Hypertension
    3. Chronic Heart Failure
  4. Contraindications
    1. Asymptomatic Anemia or uncomplicated pain crisis
    2. Priapism
  5. Precautions
    1. Blood matching should include C, E and Kell, Duffy Antigens to prevent sensitization (extended red cell Phenotype)
    2. Observe for delayed Transfusion Reaction (e.g. Jaundice, acute pain may occur weeks after transfusion)
    3. Monitor Ferritin for Iron Overload (and treat with chelation therapy if occurs)

X. Management: Hydroxyurea and Related Agents

  1. See Hydroxyurea for protocol
  2. Increases production of fetal Hemoglobin (HbF) which does not sickle
  3. Often managed in conjunction with Sickle Cell Disease specialist
  4. Indications in adults
    1. Sickle Cell Crisis 3 or more times in 12 months
    2. Severe or recurrent Acute Chest Syndrome
    3. Severe symptomatic chronic Anemia affecting functional status
    4. Sickle cell associated pain significantly impacting function or quality of life
  5. Indications in children over age 9 months
    1. All children over age 9 months should be offered Hydroxyurea to reduce complications
  6. Contraindications
    1. Pregnancy and Lactation
  7. Efficacy
    1. Full benefits may not be seen for the first 6 months after starting Hydroxyurea
    2. Reduces Sickle Cell Anemia mortality and hospitalizations (fewer episodes of crisis and Acute Chest Syndrome)
    3. Effective and underutilized in all age groups
    4. Steinberg (2003) JAMA 289:1645-51 [PubMed]
  8. Adjunctive Agents used in addition to Hydroxyurea
    1. Endari (L-Glutamine)
      1. Oral tablet twice daily for ages 5 years and older
      2. Reduces pain crises and and hospitalizations
      3. Costs $3500/month in 2020
    2. Adakveo (crizanlizumab)
      1. Monoclonal Antibody IV infusion given every 4 weeks in patients 16 years old and over
      2. Reduces vaso-Occlusion, and pain crises
      3. Costs $10,000/month in 2020
    3. Oxbryta (voxelotor)
      1. Oral tablet daily for ages 12 years and older
      2. Costs $10,000/month in 2020
    4. References
      1. (2020) presc lett 27(3): 17-8

XI. Management: Contraception

  1. Pregnancy in Sickle Cell Anemia is a high risk state
    1. Increased risk of thrombosis, Anemia, pain, infections as well as matermal death
    2. Also associated with preterm delivery, Stillbirth, Preeclampsia and severe fetal Anemia
  2. Depo Provera
    1. Preferred contraceptive option in women with Sickle Cell Anemia
    2. Lowers number of crises by 70%
    3. DeAbood (1997) Contraception [PubMed]
  3. Intrauterine Device (IUD)
    1. Levonorgestrel IUD (e.g. Mirena, Skyla) is preferred
    2. Avoid Copper-T IUD
      1. May increase risk of bleeding and worsening Anemia
  4. Oral Contraceptives
    1. Thrombosis risk is increased on Estrogen
    2. Avoid Oral Contraceptives with >20 mcg Ethinyl Estradiol (and avoid drospirenone, Desogestrel)
    3. Consider Progesteron only pills (e.g. Nor-QD)

XII. Prevention

  1. General Measures
    1. Maintain hydration
    2. Avoid Temperature extremes
    3. Sudden death risk at high altitude or with strenuous Exercise
  2. Periodic Evaluation
    1. Hematology
    2. Liver Function Tests
    3. Pulmonary Function Tests
    4. Ophthalmology with dilated exam of Retina (age 10 years and older)
      1. Repeat every 1-2 years (or more if positive findings)
    5. Renal Function tests yearly (age 10 years and older)
      1. Serum Creatinine
      2. Urine Microalbumin and Urine Protein (refer to nephrology for >Urine Protein 300 mg/24 h)
    6. Cerebrovascular Disease screening
      1. Transcranial Doppler Ultrasound (TCD) from age 2-16 years old (see above)
      2. See Cerebrovascular Accident in Sickle Cell Anemia
  3. Nutritional Supplements
    1. Folic Acid 1 mg/day
  4. Prophylactic Antibiotics
    1. See Asplenic
    2. Prophylaxis Indications
      1. Sickle Cell Anemia ages 2 months to 5 years old AND
      2. Splenectomy OR Genotype HbSS or HbS Thalassemia Beta Zero
    3. Prophylaxis Course
      1. Ages 2 months to 5 years old
      2. Extend course if complications (until Pneumococcal Vaccine series completion)
        1. Splenectomy
        2. Invasive pneumococcal infection
    4. Prophylactic Agents
      1. Penicillin V Suspension (Preferred, strongest evidence)
        1. Age <3 years: 125 mg orally twice daily
        2. Age 3 to 5 years: 250 mg orally twice daily
        3. Penicillin tablets may be split or crushed as an alternative
      2. Alternatives if Penicillin not tolerated
        1. Amoxicillin 10 mg/kg/dose (up to 250 mg) orally twice daily
        2. Bicillin LA every 3 weeks
      3. Alternatives for true Penicillin Allergy
        1. Erythromycin at same dose as Penicillin V Suspension
    5. References
      1. (2024) Presc Lett 31(12): 71
  5. Immunizations (In addition to standard CDC)
    1. See Asplenic
    2. Pneumococcal Vaccines
      1. 13-Valent Conjugate Vaccine (Prevnar, PCV)
        1. Give as per CDC Primary Series guidelines
        2. At least one dose in all children age 6 to 18 years with functional or anatomic Asplenia
        3. Has reduced Incidence of invasive Bacterial Infection from 13% to 4%
          1. Patel (2013) Pediatr Hematol Oncol 30(5): 432-6 [PubMed]
      2. 23-Valent Pneumococcal Vaccine (PPV)
        1. Give first dose at 2 years or older
        2. Repeat in 3-5 years if under age 10 years
    3. Haemophilus influenzae B Vaccine
    4. Hepatitis B Vaccine
    5. Influenza Vaccine annually (6 months or older)
    6. Meningococcal Vaccine
      1. Menveo series starting at 2 months of age
      2. Meningococcal Vaccine booster Immunizations every 5 years

XIII. Complications

  1. Musculoskeletal pain
    1. Acute Vaso-Occlusive Episode in Sickle Cell Anemia (Sickle Cell Crisis)
    2. Avascular Necrosis of the Femoral Head (or Shoulder)
      1. Peak Incidence age 5-15 years old
    3. Osteomyelitis in Sickle Cell Anemia
    4. Septic Arthritis in Sickle Cell Anemia
    5. Hand Foot Syndrome in Sickle Cell Anemia (Dactylitis in Sickle Cell Anemia)
      1. Acute Vaso-Occlusive Episode in Sickle Cell Anemia in age <4 years old
  2. Acute worsening Anemia (drop from baseline, see normal ranges under lab above)
    1. Low Reticulocyte Count indicates an RBC production disorder (contrasted with RBC destruction)
    2. Splenic Sequestration in Sickle Cell Anemia (ages 1 to 4 years old)
    3. Transient Red Cell Aplasia
    4. Sickle Cell Hemolytic Crisis
      1. Distinguish from more serious Anemia cause (Splenic Sequestration and Transient Red Cell Aplasia)
      2. Treated with routine Blood Transfusion (Leukocyte depleted, irradiated) in the ED or while admitted
        1. Risk of developing antibodies that make future transfusion matching much more difficult
        2. Request extended red cell phenotyping (includes minor Blood Groups, e.g. Kell, Duffy)
  3. Fever and Sepsis
    1. Evaluate fever >101 F (38.3 C) carefully even without localizing signs or symptoms
    2. Asplenia predisposes to overwhelming infection (esp. Encapsulated Bacteria)
      1. Higher risk for pneumonococcus, Haemophilus Influenzae, Salmonella typhi, Neisseria Meningitidis
    3. Obtain CBC, Reticulocyte Count, cultures (consider UA, CXR) and treat empirically (e.g. Ceftriaxone)
      1. Even when viral source is suspected, consider empiric Antibiotics until follow-up
    4. Unvaccinated children have a risk of serious Bacterial Infection in 10-15% (compared with 1-2% in vaccinated)
    5. Also consider other causes of fever
      1. Acute Chest Syndrome
      2. Severe Anemia
      3. Osteomyelitis in Sickle Cell Anemia
    6. Consider admitting even well appearing sickle cell children under age 2 years (highest bacteremia rate)
      1. Well appearing children over age 2 years with reassuring findings may be closely rechecked in <24 hours
    7. Admission criteria for Sickle Cell Anemia Patients (HgbSS or HgbSB0-Thal) with fever
      1. Ill appearance
      2. Fever >104 F (40 C)
      3. White Blood Cell Count >30k or <5k
      4. Central Line in place
      5. History of prior bacteremia
      6. Hemoglobin <5 g/dl OR >2 g/dl below baseline in HgbSS or HgbSB0-thal
      7. Unreliable follow-up
  4. Acute Dyspnea or Chest Pain
    1. Acute Chest Syndrome
    2. Pulmonary Hypertension (in up to 30% of patients)
    3. Pulmonary Embolism and Pulmonary Infarction
    4. Symptomatic severe Anemia (see above)
    5. Pulmonary parenchyma with Sickle Cell Crisis
    6. Other causes common to non-Sickle Cell Disease
      1. Pneumonia
      2. Acute Coronary Syndrome
      3. Asthma Exacerbation
      4. Congestive Heart Failure
  5. Neurologic conditions
    1. Cerebrovascular Accident in Sickle Cell Anemia (25% lifetime risk)
    2. Silent Cerebral Infarction in Sickle Cell Anemia (affects 25% of children by age 6 years old)
    3. Headaches
      1. Children with SCD have a 10 fold increased risk of serious underlying neurologic Headache cause
    4. Seizure Disorder (10x more common in SCD)
    5. Posterior Reversible Encephalopathy Syndrome (PRES)
      1. Presents with Headache, Seizure, Vision changes and Altered Level of Consciousness
      2. Associated with Acute Chest Syndrome in children
  6. Nephropathy
    1. Parenchymal destruction due to local chronic intermittent ischemia and infarction
    2. Starts with increased GFR, dilute urine, Dehydration and Proteinuria (present in 20% of SCA)
    3. Hematuria may be variably present (may also indicate renal papillary necrosis)
      1. See Hematuria in Sickle Cell Anemia
    4. Acute Renal Failure may accompany vaso-occlusive crisis, Acute Chest Syndrome
      1. May be provoked by NSAIDs
      2. Serum Creatinine is lower at baseline in Sickle Cell Anemia due to higher GFR
        1. Compare current Serum Creatinine to baseline Serum Creatinine levels
  7. Urologic conditions
    1. Priapism in Sickle Cell Anemia
    2. Hematuria in Sickle Cell Anemia
      1. Most common Sickle Cell Anemia complication
  8. Chronic organ damage
    1. Lung
    2. Kidney (Chronic Renal Failure)
    3. Liver
    4. Skin (Chronic Skin Ulcers)
  9. Eye complications
    1. Hyphema
      1. Emergency in Sickle Cell Anemia
      2. Risk of Aqueous Humor obstruction and acute Narrow Angle Glaucoma
      3. If IOP >25 mmHg, start ophthalmic medications (e.g. Timolol, Pilocarpine)
        1. See Acute Angle-Closure Glaucoma for acute protocol
        2. Avoid Carbonic Anhydrase Inhibitors (e.g. Acetazolamide)
          1. May worsen Glaucoma via decreased Blood Pressure and ocular pH
    2. Proliferative Retinopathy
    3. Central Retinal Artery Occlusion (Retinal Infarcts)
    4. Retinal Detachment
    5. Vitreous Hemorrhage
  10. Biliary disorders
    1. See Hepatic Crisis in Sickle Cell Anemia
    2. Intrahepatic cholestasis
      1. See Sickle Cell Intrahepatic Cholestasis
      2. RBC sickling within liver sinusoids results in hepatic ischemia and Unconjugated Hyperbilirubinemia accumulation
      3. Contrast with benign cholestasis presenting only with Jaundice and Pruritus
      4. Intrahepatic cholestasis is a life threatening condition associated with a high mortality rate
        1. Presents with RUQ Abdominal Pain, fever, Vomiting and Jaundice
        2. Risk of Hemorrhage (due to Coagulopathy), encephalopathy and Renal Failure
    3. Cholelithiasis or biliary sludge
      1. Onset in childhood and affects up to 75 to 85% of adults
      2. Hemolysis episodes generate higher Red Blood Cell turn-over, resulting in higher Unconjugated Bilirubin
      3. Increased Incidence of Gallstones, sludging, Cholecystitis, Cholelithiasis, Choledocholithiasis, Gallstone Pancreatitis
      4. Asymptomatic Cholelithiasis may be observed as with non-Sickle Cell Anemia patients
      5. Emergent Antibiotics and surgical management for Acute Cholecystitis or Choledocholithiasis
        1. Consult hematology regarding preoperative transfusion
    4. Acute hepatic sequestration
      1. Abnormal Red Blood Cells may be sequestered within the liver
  11. Abdominal Pain
    1. See Hepatic Crisis in Sickle Cell Anemia
    2. Biliary disorders (see above)
    3. Vaso-occlusive crisis
    4. Splenic Sequestration (life threatening)
    5. Intrahepatic sickling (first year of life)
    6. Consider common other intraabdominal conditions
      1. Constipation
      2. Appendicitis
      3. Ovarian Torsion
      4. Ectopic Pregnancy

XIV. Resources

  1. Sickle Cell Disease Association of America
    1. http://www.sicklecelldisease.org
    2. Phone: (800) 421-8453
  2. Sickle Centers
    1. http://www.rhofed.com/sickle
  3. Emory Sickle Cell Anemia Page
    1. http://www.scinfo.org

XV. Prognosis

  1. Sickle Cell Anemia is associated with an overall lifespan 2-3 decades shorter than non-Sickle Cell Anemia patients

XVI. References

  1. (2015) Presc Lett 22(2): 11
  2. Claudius, Behar and Sadowitz in Herbert (2018) EM:Rap 18(4): 10-2
  3. Dwyer, Kleinmann, Goswami and Lopez (2025) Crit Dec Emerg Med 39(1): 26-35
  4. Glassberg and Weingart in Majoewsky (2012) EM: Rap 12(8): 5-6
  5. Lowe and Wang (2018) Crit Dec Emerg Med 32(11): 17-25
  6. Welsh and Welsh (2016) Crit Dec Emerg Med 30(11): 15-23
  7. (2002) Pediatrics 109:526-35 [PubMed]
  8. Mehta (2006) Am Fam Physician 74:303-14 [PubMed]
  9. Steinberg (1999) N Engl J Med 340:1021-30 [PubMed]
  10. Yawn (2015) Am Fam Physician 92(12): 1069-76 [PubMed]

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Related Studies

Ontology: Anemia, Sickle Cell (C0002895)

Definition (MEDLINEPLUS)

Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage.

A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. About 1 in 12 African Americans has sickle cell trait.

The most common symptoms are pain and problems from anemia. Anemia can make you feel tired or weak. In addition, you might have shortness of breath, dizziness, headaches, or coldness in the hands and feet.

A blood test can show if you have the trait or anemia. Most states test newborn babies as part of their newborn screening programs.

Sickle cell anemia has no widely available cure. Treatments can help relieve symptoms and lessen complications. Researchers are investigating new treatments such as blood and marrow stem cell transplants, gene therapy, and new medicines.

NIH: National Heart, Lung, and Blood Institute
Definition (NCI_NCI-GLOSS) An inherited disease in which the red blood cells have an abnormal crescent shape, block small blood vessels, and do not last as long as normal red blood cells. Sickle cell anemia is caused by a mutation (change) in one of the genes for hemoglobin (the substance inside red blood cells that binds to oxygen and carries it from the lungs to the tissues). It is most common in people of West and Central African descent.
Definition (NCI) A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.
Definition (MSH) A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
Definition (CSP) disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs; the clinical expression of homozygosity for hemoglobin S.
Concepts Disease or Syndrome (T047)
MSH D000755
ICD9 282.60, 282.6
ICD10 D57 , D57.1
SnomedCT 127040003, 154798006, 191199004, 80046004, 191194009, 276267006, 191195005, 417357006
LNC LP56775-7, MTHU021603
English Anemias, Sickle Cell, Sickle Cell Anemia, Sickle Cell Anemias, Sickle-cell anemia, Sickle-cell anemia, unspecified, Disease, Hemoglobin S, Hemoglobin S Disease, Hemoglobin S Diseases, SICKLE CELL ANEMIA, HEMOGLOBIN S DIS, Hereditary hemoglobinopathy disorder homozygous for hemoglobin S, SCD, sicklemia, sickle cell anemia (diagnosis), Herrick's anemia, anemia hemolytic sickle cell anemia, sickle cell anemia, Sickle cell anaemia NOS, Sickle cell anaemia unsp type, Sickle cell anaemia of unspecified type, Sickle cell anemia NOS, Sickle cell anemia unsp type, Sickle cell anemia of unspecified type, Anaemia sickle cell, Sickle-cell anaemia, Anemia sickle cell, Sickle cell disease NOS, Sickle cell disorders, Cell Diseases, Sickle, Cell Disorders, Sickle, Cell Disease, Sickle, Sickling Disorder Due to Hemoglobin S, Sickle Cell Disease, Sickle Cell Disorder, Sickle Cell Disorders, Sickle Cell Diseases, Cell Disorder, Sickle, Anemia, Sickle Cell, Sickle-cell anemia NOS, Sickle-cell disorder NOS, Sickle-cell disorders, Sickle-cell disease NOS, Anemia, Sickle Cell [Disease/Finding], anemia cell disorders sickle, syndrome sickle cell, Anaemia;sickle cell, anemia cell disorder sickle, anemia sickle cell, anemia sickle celled, sickle cell syndrome, sickle-cell anemia, anaemia cell sickle, cell diseases sickle, cell sickle syndromes, disease hb s, hb s disease, scds, sickle cell anemias, sickle-cell disease, anemia cells sickles, cell sickle syndrome, cells disease sickle, disease sickle cell, sickle cell disorder, anemia cells sickle, anemia sickle-cell, cell disorder sickle, sickle-cell anaemia, disease sickle-cell, Hb SS, Hemoglobin SS, Hemoglobin SS Disease, Hemoglobin SS disease, HbS Disease, Sickle cell anemia NOS (disorder), Sickle cell syndrome (disorder), Sickle cell anaemia (disorder), Sickle-cell anaemia, unspecified, Hemoglobin S disease (disorder), Sickle cell anemia of unspecified type (disorder), Sickle Cell (SS only), sickle cell disease, Sickling Disorder due to Hemoglobin S, Hemoglobin S disease, Hemoglobin S-S disease, Sickle cell disease, Sickle cell anemia, Haemoglobin S disease, Haemoglobin S-S disease, Sickle cell anaemia, Sickle cell syndrome, Drepanocythaemia, Drepanocythemia, Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder), Herrick; anemia, Herrick, sickle-cell; anemia, sickle-cell; disorder, sickle-cell; hemoglobin disease, anemia; Herrick, anemia; sickle-cell, Sickle-cell disease, unspecified, Sickle-cell disease, Hb S disease, Hb SS disease, Sickling disorder due to haemoglobin S, Sickling disorder due to hemoglobin S (disorder), Sickling disorder due to hemoglobin S, Anemia;sickle cell, sickle cell anaemia
Spanish hemoglobinopatía hereditaria homocigótica por hemoglobina S, Anemia de células falciformes no especificada, Enfermedad de células falciformes, Anemia drepanocítica, Enfermedad de células falciformes NEOM, Trastornos de células falciformes, Anemia drepanocítica, no especificada, anemia de células falciformes, SAI (trastorno), anemia de células falciformes, SAI, anemia drepanocítica, SAI, anemia de células drepanocíticas, anemia de células falciformes de tipo no especificado, enfermedad por hemoglobina S, anemia de células falciformes de tipo no especificado (trastorno), anemia drepanocítica de tipo no especificado, hemoglobinopatía hereditaria por hemoglobina S (concepto no activo), anemia de células falciformes, anemia drepanocítica, drepanocitemia, enfermedad por hemoglobina S - S, hemoglobinopatía hereditaria homocigótica por hemoglobina S (trastorno), Anemia de células falciformes, drepanocitosis por hemoglobina S (trastorno), drepanocitosis por hemoglobina S, enfermedad de células falciformes, Anemia de Células Falciformes, Enfermedad de la Hemoglobina S
Italian Anemia a cellule falciformi, Anemia a cellule falciformi, non specificata, Patologie a cellule falciformi, Malattia a cellule falciformi, Anemia falciforme non specificata, Malattia a cellule falciformi NAS, Malattia dell'emoglobina S, Anemia falciforme
Dutch sickle-cellanemie, sikkelcelaandoening, anemie, sikkelcel, sikkelcelaandoeningen, sikkelcelziekte NAO, sikkelcelanemie, niet-gespecificeerd, Herrick; anemie, anemie; Herrick, anemie; sikkelcel, sikkelcel; aandoening, sikkelcel; anemie, sikkelcel; hemoglobineziekte, Sikkelcelaandoeningen, Anemie, sikkelcel-, Hemoglobine-S-ziekte, sikkelcelanemie
French Maladie drépanocytaire SAI, Anémie drépanocytaire non précisée, Maladie drépanocytaire, Affections à hématies falciformes, Anémie drépanocytaire, non précisée, Sicklémie, Anémie à hématies falciformes, Drépanocytose, Anémie à cellules falciformes, Anémie SS, Anémie drépanocytaire, Anémie falciforme, Anémie à drépanocytes, Drépanocytose homozygote, Hémoglobinopathie à hématies falciformes, Hémoglobinose SS, Hémoglobinose S, Sicklanémie
German Anaemie Sichelzellen, Sichelzellkrankheit NNB, Sichelzellanaemie, unspezifisch, Sichelzellkrankheit, Sichelzellerkrankungen, Sichelzellenkrankheiten, Sichelzellanaemie, Anämie, Sichelzellen-, Hämoglobin-S-Krankheit, Sichelzellanämie, Sichelzellenanämie
Portuguese Doença de células falciformes, Afecções de células falciformes, Anemia de células falciformes NE, Anemia de células falciformes, Drepanocitose, Anemia Falciforme, Doença da Hemoglobina S
Japanese 鎌状赤血球障害, 鎌状赤血球症, 鎌状赤血球症ＮＯＳ, 鎌状赤血球貧血、詳細不明, ｶﾏｼﾞｮｳｾｯｹｯｷｭｳｼｮｳ, ｶﾏｼﾞｮｳｾｯｹｯｷｭｳﾋﾝｹﾂｼｮｳｻｲﾌﾒｲ, ｶﾏｼﾞｮｳｾｯｹｯｷｭｳﾋﾝｹﾂ, ｶﾏｼﾞｮｳｾｯｹｯｷｭｳｼｮｳNOS, ｶﾏｼﾞｮｳｾｯｹｯｷｭｳｼｮｳｶﾞｲ, HbS病, 貧血-鎌状赤血球性, ヘモグロビンS病, 三日月形細胞貧血, 鎌形細胞貧血, 鎌形赤血球性貧血, 鎌状細胞貧血, 鎌状血球貧血, 鎌状赤血球性貧血, 鎌状赤血球貧血
Swedish Sicklecellanemi
Finnish Sirppisoluanemia
Russian ANEMIIA SERPOVIDNO-KLETOCHNAIA, GEMOGLOBINOPATIIA S, АНЕМИЯ СЕРПОВИДНО-КЛЕТОЧНАЯ, ГЕМОГЛОБИНОПАТИЯ S
Czech Srpkovitá anémie NOS, Anémie srpkovitá, Srpkovitá anémie, blíže neurčená, Srpkovitá anémie, Srpkovitá nemoc, Srpkovité poruchy, anémie srpkovitá, srpkovitá anémie, falciformní anémie, drepanocytóza
Korean 낫적혈구 장애
Polish Niedokrwistość drepanocytowa, Niedokrwistość sierpowatokrwinkowa
Hungarian Sarlósejtes vérszegénység, Sarlós-sejt anaemia, nem meghatározott, Sarlós-sejt anaemia, Sarlósejt anemia, Sarlósejtes betegségek, Sarlósejtes anaemia, Sarlósejtes betegség k.m.n., Sarlós-sejt vérszegénység, nem meghatározott, Sarlóssejtes anaemia, Sarlósejtes betegség, Sarlóssejt anaemia
Norwegian Sigdcelleanemi
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Sickle Hemoglobin (C0019043)

Definition (SPN) An abnormal hemoglobin assay is a device consisting of the reagents, apparatus, instrumentation, and controls necessary to isolate and identify abnormal genetically determined hemoglobin types.
Definition (CSP) abnormal hemoglobin caused by a point mutation in the beta chains, found in sickle cell anemia.
Definition (MSH) An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.
Concepts Biologically Active Substance (T123) , Amino Acid, Peptide, or Protein (T116)
MSH D006451
SnomedCT 123094009, 259691007, 50095005
LNC LP16455-5, MTHU016250
English Hemoglobin S, Hemoglobin, Sickle, S, Hemoglobin, Sickle Hemoglobin, hemoglobin S, HEMOGLOBIN S, HBS, HbS - Haemoglobin S, HbS - Hemoglobin S, Haemoglobin S -RETIRED-, Hemoglobin, Sickle [Chemical/Ingredient], haemoglobin s, hemoglobin sickle, hemoglobins s, hemoglobin s, Haemoglobin S (substance), Haemoglobin S, Hb S - Haemoglobin S, Hb S - Hemoglobin S, HbS, Sickle hemoglobin, Sickle haemoglobin, Hb 6 (A3), Glu-val, Hemoglobin S (substance), Hb 6(A3), Glu-val, Hemoglobin S -RETIRED-
Swedish Sicklehemoglobin
Czech hemoglobin srpkovitý
Finnish Sirppihemoglobiini
Russian GEMOGLOBIN SERPOVIDNYI, GEMOGLOBIN S, ГЕМОГЛОБИН S, ГЕМОГЛОБИН СЕРПОВИДНЫЙ
Japanese 血色素-鎌状, ヘモグロビンS, ヘモグロビン-鎌状赤血球, 鎌状血色素, 鎌状赤血球ヘモグロビン
Polish Hemoglobina anemii sierpowatej, Hemoglobina S
Spanish hemoglobina S - RETIRADO - (concepto no activo), hemoglobina S - RETIRADO -, Hb 6 (A3), Glu - val, Hb S, hemoglobina S (sustancia), hemoglobina S, hemoglobina drepanocítica, Hemoglobina Falciforme, Hemoglobinas S
French Hémoglobine S
German Hämoglobin S, Hämoglobin, Sichelzell-, Sichelzellhämoglobin
Italian Emoglobina S
Portuguese Hemoglobina S, Hemoglobina Falciforme
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Sickle Cell Trait (C0037054)

Definition (MSH) The condition of being heterozygous for hemoglobin S.
Concepts Disease or Syndrome (T047)
MSH D012805
ICD9 282.5
ICD10 D57.3
SnomedCT 154797001, 16402000
English Cell Trait, Sickle, Cell Traits, Sickle, Sickle Cell Traits, Trait, Sickle Cell, Traits, Sickle Cell, Sickle-cell trait, anemia hemolytic sickle cell trait, hemoglobinopathy trait AS (diagnosis), hemoglobinopathy trait AS, hemoglobinopathy trait S (diagnosis), sickle cell trait, sickle cell trait (diagnosis), hemoglobinopathy trait S, hemoglobin AS trait, hemoglobin S trait, Hb-S trait, Sickle Cell Trait [Disease/Finding], cell sickle trait, sickle-cell trait, cells sickle trait, sickle and cell trait, sickle cell traits, trait sickle cell, drepanocytosis, Haemoglobin S trait (disorder), Hemoglobin A-S genotype, Hemoglobin S trait, Hemoglobin S-A disorder, Heterozygous hemoglobin S, Sickle cell trait, Haemoglobin S trait, Heterozygous for Hb S, Drepanocytosis, Haemoglobin A-S genotype, Haemoglobin S-A disorder, Heterozygous haemoglobin S, AS - Sickle cell trait, Sickle cell trait (disorder), Sickle cells present, RBC's - sickle cells present, Sickle Cell Trait, Hb-S; trait, S; hemoglobin, disease (or disorder); sickle-cell, heterozygous, disease (or disorder); sickle-cell, trait, AS genotype; hemoglobin, hemoglobin disease; sickle-cell, heterozygous, hemoglobin disease; sickle-cell, trait, hemoglobin; AS genotype, hemoglobin; S, hemoglobin; trait, Hb-S, sickle-cell; disorder, heterozygous, sickle-cell; disorder, trait, sickle-cell; hemoglobin disease, heterozygous, sickle-cell; hemoglobin disease, trait, sickle-cell; trait, trait; Hb-S, trait; sickle-cell, Heterozygous Hb-S
Italian Tratto falcemico, Tratto emoglobinico S, Eterozigosi per emoglobina S, Trait falcemico
Dutch aanleg voor sikkelcel, Hb-S aanleg voor, heterozygote hemoglobine S, AS-genotype; hemoglobine, Hb-S; trait, S; hemoglobine, aandoening; sikkelcel, heterozygoot, aandoening; sikkelcel, trait, hemoglobine; AS-genotype, hemoglobine; S, hemoglobine; trait, Hb-S, hemoglobineziekte; sikkelcel, heterozygoot, hemoglobineziekte; sikkelcel, trait, sikkelcel; aandoening, heterozygoot, sikkelcel; aandoening, trait, sikkelcel; hemoglobineziekte, heterozygoot, sikkelcel; hemoglobineziekte, trait, sikkelcel; trait, trait; Hb-S, trait; sikkelcel, sikkelcelziekte, aanleg voor, Sikkelcel-trait, Trait, sikkelcel-
French Hémoglobine S hétérozygote, Trait d'hémoglobine S, Trait drépanocytaire
German heterozygotes Haemoglobin S, Hb-S-Anlage, Sichelzellen-Erbanlage, Sichelzellanlage
Portuguese Hemoglobina S heterozigótica, Traço Hb-S, Estigma Falciforme, Estigma de Células Falciformes, Traço Drepanocítico, Traço de células falciformes, Traço Falciforme
Spanish Hemoglobina S heterocigótica, Hemoglobina heterocigótica S, Rasgo de Hb S, drepanocitosis, Carácter de Células Falciformes, Rasgo Falciforme, Carácter Drepanocítico, genotipo de hemoglobina A - S, hemoglobina S heterocigota, rasgo de hemoglobina S, trastorno de hemoglobina S - A, Rasgo de células falciformes, drepanocitosis (trastorno), rasgo de drepanocitosis (trastorno), rasgo de drepanocitosis, Rasgo Drepanocítico
Japanese 鎌状赤血球形成傾向, ヘテロ接合ヘモグロビンＳ, ヘモグロビンＳ形質, ｶﾏｼﾞｮｳｾｯｹｯｷｭｳｹｲｾｲｹｲｺｳ, ﾍﾓｸﾞﾛﾋﾞﾝSｹｲｼﾂ, ﾍﾃﾛｾﾂｺﾞｳﾍﾓｸﾞﾛﾋﾞﾝS
Czech srpkovitost, Nosičství genu pro hemoglobin S, Heterozygotní hemoglobinopatie S
Finnish Sirppisoluanemian kantajuus
Russian SERPOVIDNOKLETOCHNOSTI PRIZNAK, СЕРПОВИДНОКЛЕТОЧНОСТИ ПРИЗНАК
Korean 낫적혈구 소질
Swedish Sicklecelltrait
Polish Cecha sierpowatości
Hungarian Sarlóssejtes jelleg, Hb-S jelleg, Sarlósejt-jelleg, Heterozygotás haemoglobin S, Heterozygotás hemoglobin S
Norwegian Heterozygot for sigdcelletilstand, Heterozygot for hemoglobin S, Sickle cell trait
Derived from the NIH UMLS (Unified Medical Language System)

Related Topics in Hemoglobinopathies

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