Beta Thalassemia

Aka: Beta Thalassemia, Cooley's Anemia, Beta Thalassemia Major, Beta Thalassemia Intermedia, Beta Thalassemia Trait, Thalassemia with Other Hemoglobinopathy, HbC with Beta Thalassemia, Hemoglobin C - Beta Thalassemia, Hemoglobin C-F Disease, HbE with Beta Thalassemia, Haemoglobin E - Beta thalassaemia, HbS with Beta Thalassemia, Hemoglobin S - Beta Thalassemia, Sickle Cell with Beta Thalassemia, Sickle - Beta Thalassemia

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II. Epidemiology: Ethnicity

  1. Southern Italy and Mediterranean islands (0.1% Incidence)
  2. Central Africa
  3. Southeast Asia

III. 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. Images
    1. hemoglobin.jpg

IV. Types: Beta Thalassemia

  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, and may require intermittent Blood Transfusions
    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. Associated with Gallstones, skeletal abnormalities, Hepatosplenomegaly, Jaundice, pallor
    5. Onset of symptoms by 6 months of age after Hemoglobin F (fetal Hemoglobin) levels fall
      1. Lifelong Blood Transfusions required after 6 months of age

V. Types: Beta Thalassemia with Hemoglobinopathy

  1. Hemoglobin C Disease (HbC)
    1. Beta Thalassemia with mildly reduced Beta Globin Synthesis (HbC/B+)
      1. Mild Anemia may be present
    2. Beta Thalassemia with severely reduced Beta Globin Synthesis (HbC/B0)
      1. Microcytic Anemia
  2. Hemoglobin E Disease (HbE)
    1. Beta Thalassemia Trait (HbE/B+)
      1. Mild to moderate Anemia
    2. Beta Thalassemia (HbE/B0)
      1. Similar to Beta Thalassemia Intermedia and major
      2. May be transfusion dependent
  3. Hemoglobin S Disease (HbS)
    1. Beta Thalassemia with mildly reduced Beta Globin Synthesis (HbS/B+)
      1. Less Anemia, pain and Hemolysis than with the B0 version
    2. Beta Thalassemia with severely reduced Beta Globin Synthesis (HbS/B0)
      1. Nearly identical to Sickle Cell Anemia (HbSS)
      2. Low MCV may distinguish HbS/B0 from HbSS

VI. Findings

  1. See Thalassemia
  2. Typically asymptomatic outside of Beta Thalassemia Major

VII. Labs

  1. See Thalassemia
  2. Hemolytic Anemia
    1. Typically more severe Anemia than with Alpha Thalassemia
  3. Hemoglobin Electrophoresis
    1. See Thalassemia for findings

VIII. Management

  1. See Thalassemia

IX. Prevention

  1. See Thalassemia

X. Prognosis: Life Expectancy

  1. See Thalassemia

XI. Complications

  1. See Thalassemia

XII. References

  1. Baird (2022) Am Fam Physician 105(3): 272-80 [PubMed]
  2. Muncie (2009) Am Fam Physician 80(4): 339-44 [PubMed]
  3. Piel (2014) N Engl J Med 371(20): 1908-16 [PubMed]
  4. Rund (2005) N Engl J Med 353(11):1135-46 [PubMed]

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Ontology: 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
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: 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
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Sickle cell-beta-thalassemia (C0221019)

Definition (NCI) A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene.
Concepts Disease or Syndrome (T047)
SnomedCT 191185003, 127041004
LNC LP56777-3, MTHU021605
English Double heteroz Hb S+beta thal, Haemoglobin S/beta thalassae, Hemoglobin S/beta thalassae, Thalassaemia Hb-S disease, Thalassemia Hb-S disease, sickle beta-thalassemia (diagnosis), anemia hemolytic sickle beta-thalassemia, sickle beta-thalassemia, Sickle cell-beta-thalassemia, sickle cell thalassemia, sickle cell thalassaemia, hemoglobin s thalassemia, Sickle Cell-Beta Thalassemia, Sickle Beta Thalassemia, Haemoglobin S/beta thalassaemia (disorder), Hemoglobin S beta thalassemia, Sickle Cell-Beta-Thalassemia, Haemoglobin S/beta thalassaemia, Hemoglobin S/beta thalassemia, Thalassaemia with haemoglobin S disease, Thalassemia with hemoglobin S disease, Double heterozygous for Hb S and beta thalassaemia, Double heterozygous for Hb S and beta thalassemia, Sickle cell-beta-thalassaemia, Sickle cell-beta-thalassemia (disorder)
Spanish talasemia - beta de células drepanocíticas (trastorno), talasemia - beta de células drepanocíticas
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Thalassemia-hemoglobin C disease (C0221020)

Concepts Disease or Syndrome (T047)
ICD10 D56.8
SnomedCT 61777009
English hemoglobin c thalassemia, hemoglobin c thalassemia (diagnosis), Hemoglobin C thalassemia, Hemoglobin C-F disease, Thalassemia-hemoglobin C disease, Haemoglobin C-F disease, Thalassaemia-haemoglobin C disease, Thalassemia-hemoglobin C disease (disorder)
Spanish enfermedad por hemoglobina C - F (trastorno), enfermedad por hemoglobina C - F, enfermedad por talasemia - hemoglobina C
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Thalassemia with other hemoglobinopathy (C0272086)

Concepts Disease or Syndrome (T047)
ICD10 D56.8
SnomedCT 47047009
English Thalassemia with other hemoglobinopathy, Thalassaemia with other haemoglobinopathy, Thalassemia with other hemoglobinopathy (disorder), thalassemia; with other hemoglobinopathy, Thalassemia with other hemoglobinopathy, NOS
Dutch thalassemie; met andere hemoglobinopathie
Spanish talasemia asociada a otra hemoglobinopatía (trastorno), talasemia asociada a otra hemoglobinopatía
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Beta thalassemia intermedia (C0472767)

Concepts Disease or Syndrome (T047)
SnomedCT 191189009
English Beta thalassaemia intermedia, Beta thalassemia intermedia, Beta thalassemia intermedia (disorder)
Spanish betatalasemia intermedia (trastorno), betatalasemia intermedia
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Beta thalassemia trait (C0878521)

Concepts Disease or Syndrome (T047)
ICD10 D56.3
SnomedCT 154800004, 191188001, 269175006
English trait beta thalassemia, beta thalassemia trait, beta thalassaemia trait, beta-thalassemia trait (diagnosis), beta-thalassemia trait, Beta thalassaemia trait (disorder), Beta thalassaemia trait, Beta thalassemia trait, Beta thalassemia trait (disorder), Beta thalassaemia trait [Ambiguous]
Spanish rasgo beta talasémico (trastorno), rasgo beta talasémico
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Haemoglobin E-thalassaemia disease (C1328338)

Concepts Disease or Syndrome (T047)
Italian Talassemia con Emoglobina E
French Thalassémie à hémoglobinose E, E thalassémie de l'hémoglobine
German Haemoglobin-E-Thalassaemieerkrankung, Haemoglobin-E-Thalassaemie
Japanese Ｅ型ヘモグロビン性サラセミア, Eｶﾞﾀﾍﾓｸﾞﾛﾋﾞﾝｾｲｻﾗｾﾐｱ
Czech Hemoglobinopatie E - talasemie
Hungarian Haemoglobin-E-thalassaemia betegség, Haemoglobin E-thalassaemia betegség
English Haemoglobin E-thalassaemia disease, Hemoglobin E-thalassemia disease
Portuguese Doença de hemoglubina E-talassemia
Spanish Enfermedad por hemoglobina E-talasemia
Dutch hemoglobine E-thalassemie-ziekte
Derived from the NIH UMLS (Unified Medical Language System)

Related Topics in Hemoglobinopathies

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