Hematology and Oncology Book

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Sickle Cell Anemia

Aka: Sickle Cell Anemia, Sickle Cell Trait
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  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. Mechanisms of dysfunction
      1. Hypercoagulable
        1. Round round blood cells
        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
    4. 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
  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. Labs: Precautions
    1. Serum Creatinine
      1. Frequently lower in Sickle Cell Anemia and may underestimate renal dysfunction
  5. 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
  6. 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 289:1645-51
    3. Depo Provera in women with Sickle Cell Anemia
      1. Lowers number of crises by 70%
      2. DeAbood (1997) Contraception
    4. Hematopoietic Cell Transplantation
      1. Curative in 85-90% of cases
      2. 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. Acute Vaso-Occlusive Episode in Sickle Cell Anemia
    2. Splenic Sequestration in Sickle Cell Anemia
    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 emergency department or while admitted
    5. Hematuria in Sickle Cell Anemia
      1. Most common Sickle Cell Anemia complication
    6. Pulmonary Hypertension (in up to 30% of patients)
    7. Acute Chest Syndrome
    8. Hand Foot Syndrome in Sickle Cell Anemia
    9. Priapism in Sickle Cell Anemia
    10. Cerebrovascular Accident in Sickle Cell Anemia
    11. Avascular Necrosis of Femoral Head
    12. Sudden death with exertion
      1. High altitude
      2. Strenuous Exercise
    13. Chronic organ damage
      1. Lung
      2. Kidney (Chronic Renal Failure)
      3. Liver
      4. Skin (Chronic skin ulcers)
    14. Congestive Heart Failure
    15. Eye complications
      1. Hyphema (emergency in Sickle Cell Anemia)
      2. Proliferative retinopathy
      3. Retinal Infarcts
      4. Retinal Detachment
      5. Vitreous Hemorrhage
    16. Biliary disorders
      1. Cholelithiasis
      2. Intrahepatic cholestasis
        1. Jaundice (Unconjugated Hyperbilirubinemia)
  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. Glassberg and Weingart in Majoewsky (2012) EM: Rap 12(8): 5-6
    2. Mehta (2006) Am Fam Physician 74:303-14
    3. Steinberg (1999) N Engl J Med 340:1021-30
    4. (2002) Pediatrics 109:526-35

Anemia, Sickle Cell (C0002895)

Definition (NCI) A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.
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, which 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. A blood test can show if you have the trait or anemia. Most states test newborn babies as part of their newborn screening programs.
Definition (NCI) 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 (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, 191194009, 154798006, 276267006, 80046004, 191195005, 191199004, 417357006
English Anemias, Sickle Cell, Sickle Cell Anemia, Sickle Cell Anemias, Sickle-cell anemia, SICKLE CELL HEMOLYTIC ANEMIA, ANEMIA, SICKLE CELL, HERRICK SYNDROME, SICKLE CELL DISEASE, 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 (disorder), Sickle cell syndrome (disorder), Hemoglobin S disease (disorder), 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, Hemoglobin SS disease, 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 (disorder), Sickle cell anemia of unspecified type (disorder), 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, Hemoglobin SS Disease, sickle cell disease, Sickle-cell anaemia, unspecified, 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, Sickle cell anemia, Sickle cell syndrome, Sickle cell anaemia, anemia de células drepanocíticas, anemia de células falciformes de tipo no especificado (trastorno), anemia de células falciformes de tipo no especificado, anemia de células falciformes, SAI (trastorno), anemia de células falciformes, SAI, anemia de células falciformes, anemia drepanocítica de tipo no especificado, anemia drepanocítica, SAI, anemia drepanocítica, drepanocitemia, enfermedad por hemoglobina S - S, enfermedad por hemoglobina S, hemoglobinopatía hereditaria homocigótica por hemoglobina S (trastorno), hemoglobinopatía hereditaria por hemoglobina S (concepto no activo), 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, Anemia de Celulas Falciformes
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
Czech anémie srpkovitá, Srpkovitá anémie NOS, Anémie srpkovitá, Srpkovitá anémie, blíže neurčená, Srpkovitá anémie, Srpkovitá nemoc, Srpkovité poruchy
Finnish Sirppisoluanemia
Russian ANEMIIA SERPOVIDNO-KLETOCHNAIA, GEMOGLOBINOPATIIA S, АНЕМИЯ СЕРПОВИДНО-КЛЕТОЧНАЯ, ГЕМОГЛОБИНОПАТИЯ S
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
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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, SICKLE CELL TRAIT, Hemoglobin S-A disease, Sickle cell trait syndrome, anemia hemolytic sickle cell trait, hemoglobinopathy trait S (diagnosis), sickle cell trait, sickle cell trait (diagnosis), hemoglobinopathy trait S, Haemoglobin S trait (disorder), 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, 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, Traço de células falciformes, Estigma Falciforme, Estigma de Células Falciformes, Traço Drepanocítico, Traço Falciforme
Spanish Hemoglobina S heterocigótica, Hemoglobina heterocigótica S, Rasgo de Hb S, drepanocitosis, Hemoglobin S trait, Haemoglobin S trait, 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, Caracter Drepanocitico, Caracter de Celulas Falciformes, Carácter Drepanocítico, Carácter de Células Falciformes, Rasgo Drepanocitico, Rasgo Drepanocítico, Rasgo Falciforme
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
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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