Hematology and Oncology Book

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Beta Thalassemia

Aka: Beta Thalassemia, Cooley's Anemia
  1. See Also
    1. Thalassemia
  2. Epidemiology: Ethnicity
    1. Southern Italy and Mediterranean islands (0.1% Incidence)
    2. Central Africa
    3. Southeast Asia
  3. Pathophysiology
    1. See Hemoglobin Production
    2. Autosomal Recessive trait affecting single gene on each of the two Chromosome 11
    3. Results in decrease of absence of Hemoglobin beta chains and excess of alpha chains
  4. Types
    1. Beta Thalassemia Trait
      1. One gene defect on Chromosome 11 (Heterozygote)
      2. Typically asymptomatic
    2. Beta Thalassemia Intermedia
      1. Two gene defect on Chromosome 11
      2. Mild to moderate decrease in beta globin synthesis
      3. Moderate symptoms (less than in Beta Thalassemia Major) - see below
    3. Beta Thalassemia Major (Cooley's Anemia)
      1. Two gene defect on Chromosome 11
      2. Severe decrease in beta globin synthesis
      3. Severe symptoms (see below)
      4. Onset of symptoms by 6 months of age after Hemoglobin F (fetal Hemoglobin) levels fall
  5. Symptoms
    1. Irritability
  6. Signs
    1. Abdominal Distention
    2. Pallor
    3. Splenomegaly
    4. Impaired Growth
  7. Labs
    1. See Thalassemia
    2. Hemolytic Anemia
      1. Typically more severe Anemia than with Alpha Thalassemia
  8. Diagnosis
    1. Hemoglobin Electrophoresis
  9. Management: Beta Thalassemia Major
    1. Periodic Blood Transfusions to keep Hemoglobin >9.5 g/dl
      1. May be required as young as 6 months
      2. Concurrent use of an iron chelator starting at 5 to 8 years old
        1. Deferoxamine (Desferal) SQ/IV
        2. Deferasirox (Exjade) Orally
    2. Bone Marrow Transplantation
      1. Curative of Beta Thalassemia when performed in childhood in low risk patients
    3. Splenectomy in cases of hypersplenism
      1. Indicated after age 4
  10. Management: General
    1. Folic Acid 1 gram orally daily
  11. Complications
    1. Untreated infants
      1. Growth Delay
      2. Skeletal disorders
      3. Jaundice
    2. Hypersplenism (requires splenectomy)
    3. High Cardiac Risk Factor
      1. Increased survival when Serum Ferritin <2500 ng/ml (assumes normal liver function)
    4. Hypercoagulable state (especially after splenectomy)
      1. Consider Perioperative Anticoagulation
      2. Avoid exacerbating Hypercoagulable state (e.g. avoid OCPs in women)
    5. Osteoporosis
    6. Treatment complications
      1. Iron overload (Hemochromatosis) related to frequent transfusions
  12. Prevention
    1. Preconception Genetic Counseling for parents with Thalassemia
    2. Chorionic Villus Sampling can diagnose Beta Thalassemia in first trimester
    3. Preimplantation Genetic Testing can predict Beta Thalassemia prior to in vitro fertilization
  13. Prognosis: Life Expectancy
    1. Beta Thalassemia Trait: Normal Life Expectancy
    2. Beta Thalassemia Major: 17-30 years (due to iron overload complications)
  14. References
    1. Muncie (2009) Am Fam Physician 80(4): 339-44 [PubMed]
    2. Rund (2005) N Engl J Med 353(11):1135-46 [PubMed]

Cooley's anemia (C0002875)

Definition (NCI) An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features.
Concepts Disease or Syndrome (T047)
MSH D017086
ICD10 D56.1
SnomedCT 191182000, 191183005, 191193003, 26682008, 75451007
English Anemia, Cooley's, Anemia, Erythroblastic, Anemia, Mediterranean, Anemias, Erythroblastic, thalassemia major, homozygous beta-thalassemia major (diagnosis), homozygous beta-thalassemia major, major homozygous beta-thalassemia, Cooley Anemia, Beta thalassemia major, Thalassemia Majors (beta-Thalassemia Major), Thalassemia Major (beta-Thalassemia Major), Major, Thalassemia (beta-Thalassemia Major), Thalassemia Major (beta Thalassemia Major), Majors, Thalassemia (beta-Thalassemia Major), anemia cooley's, beta thalassaemia major, beta thalassemia major, cooley anemia, cooley's anemia, major thalassemia, mediterranean anaemia, cooleys anemia, cooley's anaemia, homozygous beta thalassemia, mediterranean anemia, thalassaemia major, Anemia, Cooley, Anemia, Cooleys, thalassemia major (diagnosis), Mediterranean Anemia, Erythroblastic Anemia, Mediterranean Anemias, Anemias, Mediterranean, Mediterranean anaemia, Thalassaemia major - Cooley's anaemia, Thalassemia major - Cooley's anemia, Thalassemia major, Homozygous beta thalassemia, Mediterranean anemia, Beta thalassaemia major, Cooley's anaemia, Thalassaemia major, Homozygous beta thalassaemia, Homozygous beta thalassemia (disorder), Homozygous thalassaemia, Homozygous thalassemia, Thalassemia major (disorder), Mediterranean; anemia, major; thalassemia, anemia; Cooley, anemia; Mediterranean, Cooley; anemia, Cooley, thalassemia; major, Homozygous thalassemia, NOS, Thalassemia major, NOS, Cooley's Anemia, Cooley's anemia, Thalassemia Major
Dutch Cooley-anemie, thalassaemia major, thalassemie major, Cooley; anemie, Middellandse Zee; anemie, anemie; Cooley, anemie; Middellandse Zee, maior; thalassemie, thalassemie; maior, Anemie, Cooley-, Anemie, Mediterrane, Anemie, erytroblastaire, Thalassaemia major
German Cooley-Anaemie, Thalassaemia major, Anaemie, Cooley-, Anämie, Erythroblasten-, Anämie, Mittelmeer-
Portuguese Talassemia major, Talassemia Maior, Anemia de Cooley, Anemia do Mediterrâneo, Anemia Eritroblástica
Spanish Talasemia mayor, Talasemia Mayor, anemia de Cooley, anemia mediterránea, talasemia beta homocigota (trastorno), talasemia beta homocigota, talasemia homocigota, talasemia mayor (trastorno), talasemia mayor, Anemia de Cooley, Anemia Eritroblástica, Anemia Mediterránea
Japanese クーリー貧血, 重症型サラセミア, ｸｰﾘｰﾋﾝｹﾂ, ｼﾞｭｳｼｮｳｶﾞﾀｻﾗｾﾐｱ
Czech thalassaemia major, Cooleyho anémie, Thalassaemia major
French bêta-Thalassémie majeure, Anémie méditerranéenne, Thalassémie majeure, Anémie de Cooley, Anémie érythroblastique, Maladie de Cooley, bêta-Thalassémie homozygote
Italian Talassemia major, Anemia di Cooley, Anemia eritroblastica, Anemia mediterranea
Hungarian Cooley-anaemia, Major thalassaemia, Thalassaemia major, Cooley-vérszegénység
Norwegian Middelhavsanemi, Thalassemia major, Cooleys anemi
Sources
Derived from the NIH UMLS (Unified Medical Language System)


beta Thalassemia (C0005283)

Definition (MSH) A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
Concepts Disease or Syndrome (T047)
MSH D017086
ICD9 282.44
ICD10 D56.1
SnomedCT 79592006, 191190000, 65959000
LNC LA18564-7
English beta-Thalassemia, Thalassemia beta, beta+ Thalassemia, NOS, beta+ Thalassaemia, beta+ Thalassemia (disorder), beta+ Thalassemia, beta<sup>+</sup> Thalassaemia, beta<sup>+</sup> Thalassemia (disorder), beta<sup>+</sup> Thalassemia, NOS, beta<sup>+</sup> Thalassemia, Beta-thalassemia, beta-thalassemia (diagnosis), beta-thalassemia, B-thalassemia, Beta-thalassaemia, Thalassaemia beta, beta-Thalassemia [Disease/Finding], beta-thalassaemia, beta thalassaemia, beta thalassemia, thalassaemia beta, thalassemia beta, beta thalassemias, BETA-THALASSEMIA, beta Thalassemias, Type Microcytemia, beta, Type Thalassemia, beta, Thalassemias, beta Type, Microcytemias, beta Type, Microcytemia, beta Type, beta Type Thalassemias, beta Type Microcytemia, beta Type Microcytemias, Thalassemias, beta, beta Type Thalassemia, Type Thalassemias, beta, Type Microcytemias, beta, Thalassemia, beta Type, Thalassemia, beta, Beta thalassemia, Beta thalassaemia, Beta thalassaemia syndrome, Beta thalassemia syndrome, Beta + thalassaemia, Beta + thalassemia, beta Thalassaemia, beta Thalassemia (disorder), beta^+^ Thalassaemia, beta^+^ Thalassemia (disorder), beta^+^ Thalassemia, beta; thalassemia, thalassemia; beta, beta Thalassemia, NOS, beta^+^ Thalassemia, NOS, Beta Thalassemia, beta Thalassemia
Italian Talassemia beta, Beta-talassemia, Beta talassemia, beta-talassemia
Dutch bètathalassemie, bèta; thalassemie, thalassemie; bèta, Bta-thalassemiei, bèta-thalassemie, Bèta-thalassemie, Thalassemie, bèta-
French Bêta-thalassémie, Bêtathalassémie, Thalassémie bêta, bêta-Thalassémie
German Beta-Thalassaemie, Thalassaemie beta, Beta-Thalassämie, Thalassämie, Beta-
Spanish Beta talasemia, talasemia beta+ (trastorno), talasemia beta<sup>+</sup> (trastorno), talasemia beta+, talasemia beta<sup>+</sup>, Talasemia beta, beta Talasemia, beta-Talasemia, talasemia beta (trastorno), talasemia beta^+^ (trastorno), talasemia beta^+^, talasemia beta
Japanese βサラセミア, ﾍﾞｰﾀｻﾗｾﾐｱ, ヘモグロビンF症, サラセミアメジャー, 小タラセミア, 海洋貧血, 地中海貧血, 血色素F症, β-サラセミア, サラセミアマイナー, ベータサラセミア, 大サラセミア, 赤芽球性貧血, 小サラセミア, 地中海性貧血, 貧血-Cooley, 貧血-赤芽球性, 貧血-地中海, クーリー貧血, 大タラセミア, サラセミア-ベータ, Cooley貧血
Swedish beta-talassemi
Czech Cooleyova talasémie, talasémie beta, Beta talasemie
Finnish Beetatalassemia
Russian ANEMIIA SREDIZEMNOMORSKAIA, ANEMIIA KULI, ANEMIIA ERITROBLASTICHESKAIA, TALASSEMIIA BOL'SHAIA, BETA-TALASSEMIIA, TALASSEMIIA BETA, GEMOGLOBINOPATIIA F, TALASSEMIIA MALAIA, АНЕМИЯ КУЛИ, АНЕМИЯ СРЕДИЗЕМНОМОРСКАЯ, АНЕМИЯ ЭРИТРОБЛАСТИЧЕСКАЯ, БЕТА-ТАЛАССЕМИЯ, ГЕМОГЛОБИНОПАТИЯ F, ТАЛАССЕМИЯ БЕТА, ТАЛАССЕМИЯ БОЛЬШАЯ, ТАЛАССЕМИЯ МАЛАЯ
Korean 베타 지중해빈혈
Polish Niedokrwistość śródziemnomorska, Niedokrwistość erytroblastyczna, Talasemia pośrednia, Talasemia beta, Choroba hemoglobiny F, Talasemia większa, Talasemia beta sierpowatokrwinkowa, Niedokrwistość Cooley'a, Ciężka talasemia beta
Hungarian Thalassaemia beta, Thalassaemia béta, Beta-thalassaemia, Beta thalassaemia
Norwegian Betatalassemi, Talassemi-β, Beta-talassemi
Portuguese Talassemia beta
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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