Hematology and Oncology Book

http://www.fpnotebook.com/

Sickle Cell AnemiaAka: Sickle Cell Trait

Advertisement

  1. Epidemiology: Sickle Cell Trait (A/S) Incidence
    1. Americans of African Descent: 1 in 12
    2. Also Seen in Greeks, Italians, Turks, Saudi Arabians
  2. Pathophysiology
    1. Normal Hemoglobin A replaced by Hemoglobin S (Hb S)
    2. Substitution of Valine for glutamic acid
      1. Occurs at the 6th position of the beta-chain
  3. 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)
      1. Initially infant's RBCs mainly contain fetal Hb F
      2. Within months the abnormal Hb S replaces the Hb F
  4. Imaging
    1. Transcranial Doppler Ultrasound
      1. Evaluate transcranial blood-flow velocity
      2. Start screening at age 2 years
      3. See Cerebrovascular Accident in Sickle Cell Anemia
  5. Management
    1. Blood Transfusion Indications
      1. Acute indications
        1. Multi-organ failure syndrome
        2. Major surgical procedures (including Tonsillectomy)
        3. Cerebrovascular Accident in Sickle Cell Anemia
        4. Progressive Acute Chest Syndrome
      2. Chronic indications
        1. Prevention in children at high risk of CVA
          1. Cerebrovascular Accident in Sickle Cell Anemia
        2. Pulmonary Hypertension
        3. Chronic Heart Failure
    2. Hydroxyurea
      1. Increases production of fetal Hemoglobin (HbF)
      2. Indicated for 3 or more crises per year, over age 18
      3. Reduces sickle cell Anemia mortality
        1. Steinberg (2003) JAMA 289:1645
    3. Depo Provera in women with sickle cell Anemia
      1. Lowers number of crises by 70%
      2. DeAbood (1997) {a :
    4. Hematopoietic Cell Transplantation
      1. Curative in 85-90% of cases
  6. : Mortality: 5-10% (related to rejection, infection)
  7. Prevention
    1. Periodic Evaluation
      1. Hematology
      2. Ophthalmology beginning at age 10 years
      3. Liver Function Tests
      4. Renal Function tests
      5. Pulmonary Function Tests
    2. Nutritional Supplements
      1. Folic Acid 1 mg/day
    3. Prophylactic Antibiotics
      1. See Asplenic
      2. Penicillin V 150 mg bid (increase at age 3 years)
        1. Given from 2 months old to age 5
        2. May substitute with Bicillin LA every 3 weeks
        3. Extend course if complications
          1. Splenectomy
          2. Invasive pneumococcal infection
    4. Immunizations (In addition to standard CDC)
      1. See Asplenic
      2. Pneumococcal Vaccines
        1. 7-Valent Conjugate Vaccine (Prevnar, PCV)
          1. Give as per CDC Primary Series guidelines
        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 (age 2 years or older)
  8. Complications
    1. Sickle Cell Crisis
    2. Hematuria in Sickle Cell Anemia
      1. Most common Sickle Cell Anemia complication
    3. Pulmonary Hypertension (in up to 30% of patients)
    4. Acute Chest Syndrome
    5. Hand Foot Syndrome in Sickle Cell Anemia
    6. Priapism in Sickle Cell Anemia
    7. Cerebrovascular Accident in Sickle Cell Anemia
    8. Avascular Necrosis of Femoral Head
    9. Splenic Sequestration and Infarct
      1. See Asplenic
    10. Chronic organ damage
      1. Lung
      2. Kidney (Chronic Renal Failure)
      3. Liver
      4. Skin (Chronic skin ulcers)
    11. Congestive Heart Failure
    12. Eye complications
      1. Proliferative retinopathy
      2. Retinal Infarcts
      3. Retinal Detachment
      4. Vitreous Hemorrhage
    13. Jaundice (Unconjugated Hyperbilirubinemia)
    14. Cholelithiasis
  9. 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
  10. References
    1. Mehta (2006) Am Fam Physician 74:303
    2. Steinberg (1999) N Engl J Med 340:1021
    3. (2002) Pediatrics 109:526

Sickle Cell Anemia (C0002895)

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.
ConceptsDisease or Syndrome (T047)
ICD9282.6, 282.60
EnglishDrepanocythaemia, Drepanocythemia, Haemoglobin S disease, Hb S disease, Hb SS disease, HEMOGLOBIN S DIS, Hemoglobin S Disease, Hemoglobin S Diseases, Hereditary hemoglobinopathy disorder homozygous for hemoglobin S, HERRICK SYNDROME, Herrick's anemia, SCD, Sickle cell anaemia, Sickle cell anaemia of unspecified type, Sickle Cell Anemia, Sickle cell anemia of unspecified type, Sickle Cell Anemias, Sickle cell disease, SICKLE CELL HEMOLYTIC ANEMIA, Sickle cell syndrome, sicklemia, Sickling disorder due to haemoglobin S, Sickling disorder due to hemoglobin S
Spanishanemia de células drepanocíticas, anemia de células falciformes, anemia de células falciformes de tipo no especificado, anemia de celulas drepanociticas, anemia de celulas falciformes, anemia de celulas falciformes de tipo no especificado, anemia drepanocítica, anemia drepanocítica de tipo no especificado, anemia drepanocitica, anemia drepanocitica de tipo no especificado, drepanocitemia, drepanocitosis por hemoglobina S, enfermedad de células falciformes, enfermedad de celulas falciformes, enfermedad por hemoglobina S, hemoglobinopatía hereditaria homocigótica por hemoglobina S, hemoglobinopatia hereditaria homocigotica por hemoglobina S
CreditsDerived from the NIH UMLS (Unified Medical Language System)



Navigation Tree