Alpha Thalassemia

Aka: Alpha Thalassemia, Hemoglobin H Disease, HbH Disease, Hemoglobin H Constant Spring Thalassemia, Non-Immune Hydrops Fetalis, Alpha Thalassemia Trait, Alpha Thalassemia Minor, Alpha Thalassemia Intermedia, Alpha Thalassemia Major, Hemoglobin Bart's Hydrops Syndrome

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II. Epidemiology: Ethnicity

  1. African descent (2% Incidence)
  2. Asian patients (Incidence common)

III. Pathophysiology

  1. See Hemoglobin Production
  2. Autosomal Recessive trait affecting two genes on each of the two Chromosome 16
  3. Results in decrease of absence of Hemoglobin Alpha chains and excess of beta chains
  4. Images
    1. hemoglobin.jpg

IV. Types

  1. Asymptomatic
    1. Alpha Thalassemia Silent Carrier (Alpha Thalassemia Minima)
      1. Chromosome 16 gene deletions: 1 of 4
      2. Normal Hemoglobin And Hematocrit
    2. Alpha Thalassemia Trait (Alpha Thalassemia Minor)
      1. Chromosome 16 gene deletions: 2 of 4
      2. Peripheral Smear shows microcytosis
      3. Typically no Anemia (although Hemoglobin may be borderline low)
      4. MCV <80 fl
  2. Moderate to severe symptoms
    1. Alpha Thalassemia Intermedia (Deletional HbH Disease)
      1. Significant Hemoglobin H present (Hemoglobin composed of 4 beta chains)
      2. Chromosome 16 gene deletions: 3 of 4
      3. Mild to moderate Anemia (Hgb 6.9 to 10.7 g/dl, MCV 46 to 76 fl), with ineffective Erythropoiesis
      4. Associated with skeletal abnormalities
    2. Hemoglobin Constant Spring (Non-Deletional HbH Disease)
      1. Mutant Allele results in decreased alpha-globin activity
      2. Reduced alpha globin output
      3. More severe than deletional HbH
      4. Moderate to severe Anemia (Hgb 6.9 to 10.7 g/dl, MCV 48 to 80 fl) often requiring transfusion
      5. Also associated Splenomegaly, Gallstones, growth retardation, decreased Bone Mineral Density
    3. Alpha Thalassemia Major (Hemoglobin Bart, Non-Immune Hydrops Fetalis)
      1. Significant Hemoglobin Bart's present (Hemoglobin composed of 4 gamma chains)
      2. Chromosome 16 gene deletions: 4 of 4
      3. Results in Non-Immune Hydrops Fetalis (lethal in most cases)
      4. Transfusion dependent if survives

V. Signs

  1. Splenomegaly
    1. Seen in Alpha Thalassemia Intermedia and higher

VI. Labs

  1. See Thalassemia
  2. Microcytosis
    1. Seen in Alpha Thalassemia Trait and higher
  3. Hemolytic Anemia
    1. Seen in Alpha Thalassemia Intermedia and higher
    2. Typically more mild Anemia than seen in Beta Thalassemia
  4. Hemoglobin Electrophoresis
    1. See Thalassemia for findings

VII. Management

  1. See Thalassemia

VIII. Complications

  1. See Thalassemia
  2. Alpha Thalassemia Intermedia
    1. Mild to moderate Hemolytic Anemia
  3. Alpha Thalassemia Major
    1. Non-Immune Hydrops Fetalis in utero (fatal)
    2. In-Utero transfusions have been performed to prevent Non-Immune Hydrops Fetalis

IX. References

  1. Baird (2022) Am Fam Physician 105(3): 272-80 [PubMed]
  2. Chui (2003) Blood 101(3):791-800 [PubMed]
  3. Muncie (2009) Am Fam Physician 80(4): 339-44 [PubMed]
  4. Piel (2014) N Engl J Med 371(20): 1908-16 [PubMed]

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Related Studies

Ontology: alpha-Thalassemia (C0002312)

Definition (MSHCZE) Porucha alfa-řetězců. Podle počtu fungujících genů pro alfa-řetězec (normálně celkem dva páry, čili čtyři geny) existují formy s různou závažností. Nejzávažnější je mutace všech čtyř genů s výskytem hemoglobinu Bart, která je neslučitelná se životem. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) A genetic hematologic disorder characterized by partial or complete absence of the alpha globin chains of the heme molecule.
Definition (MSH) A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
Concepts Disease or Syndrome (T047)
MSH D017085
ICD9 282.43
ICD10 D56.0
SnomedCT 191186002, 68913001
English alpha-Thalassemias, Disease, Hemoglobin H, Hemoglobin H Disease, Thalassemia alpha, Thalassemia-alpha, Alpha thalassaemia, Alpha-thalassemia, Alpha thalassemia, HEMOGLOBIN H DIS, Alpha-thalassaemia, Thalassaemia alpha, Hemoglobin H disease, alpha-Thalassemia [Disease/Finding], A-Thalassemia, alpha thalassaemia, alpha thalassemias, alpha-thalassemia, thalassemia alpha, alpha-thalassaemia, ALPHA-THALASSEMIA, alpha thalassemia, alpha thalassemia (diagnosis), Alpha Thalassemia, Thalassemia, Alpha, alpha Thalassemia, Alpha thalassaemia syndrome, Alpha thalassemia syndrome, alpha Thalassaemia, alpha Thalassemia (disorder), alpha; thalassemia, thalassemia; alpha, alpha Thalassemia, NOS, alpha-Thalassemia
Italian Talassemia alfa, alfa-talassemia
Dutch alfathalassemie, alfa; thalassemie, thalassemie; alfa, alfa-thalassemie, Alfa-thalassemie, Hemoglobine-H-ziekte, Thalassemie alfa, Thalassemie, alfa-
French Alphathalassémie, Alpha-thalassémie, a-Thalassémie, Hémoglobinose H, Hémoglobinopathie H, Thalassémie alpha, alpha-Thalassémie
German Alpha-Thalassaemie, Thalassaemie alpha, Alpha-Thalassämie, Hämoglobin-H-Krankheit, Thalassämie, Alpha-
Portuguese Alfa-talassemia, Talassemia alfa, Doença da Hemoglobina H
Spanish Alfa talasemia, Talasemia alfa, alfatalasemia, alfa-Talasemia, alfa Talasemia, talasemia alfa (trastorno), talasemia alfa, Enfermedad de la Hemoglobina H
Japanese αサラセミア, ｱﾙﾌｧｻﾗｾﾐｱ, アルファサラセミア, サラセミア-アルファ, アルファ地中海貧血, ヘモグロビンH症, α-サラセミア, 血色素H症
Swedish Alfatalassemi
Czech talasémie alfa, Talasemie alfa, Alfa talasemie
Finnish Alfatalassemia
Russian GEMOGLOBINOPATIIA H, AL'FA-TALASSEMIIA, TALASSEMIIA AL'FA, АЛЬФА-ТАЛАССЕМИЯ, ГЕМОГЛОБИНОПАТИЯ H, ТАЛАССЕМИЯ АЛЬФА
Korean 알파 지중해빈혈
Polish Choroba hemoglobiny H, Talasemia alfa
Hungarian Alpha-thalassaemia, Alpha thalassaemia, Thalassaemia alpha
Norwegian Alfatalassemi, Hemoglobin H-sykdom, Thalassemia-α, Talassemi-α, Alfa-talassemi
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Hemoglobin Bart's hydrops syndrome (C0272005)

Concepts Disease or Syndrome (T047)
ICD10 D56.0
SnomedCT 5300004
LNC LA18582-9
English Bart's disease, Bart's disease (diagnosis), Haemoglobin Bart hydrops syndrome, Hemoglobin Bart hydrops syndrome, alpha thalassemia major (diagnosis), Hemoglobin Bart's disease, Hemoglobin Bart's hydrops syndrome, Alpha thalassaemia major, Alpha thalassemia major, Haemoglobin Bart's disease, Haemoglobin Bart's hydrops syndrome, Haemoglobin Barts hydrops, Hemoglobin Barts hydrops, Hemoglobin Bart's hydrops syndrome (disorder)
Spanish alfa talasemia mayor, enfermedad de la hemoglobina de Bart, síndrome de hidropesía por hemoglobina de Bart (trastorno), síndrome de hidropesía por hemoglobina de Bart
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Hydrops Fetalis, Non-Immune (C0455988)

Definition (NCI) Fluid accumulation in multiple fetal anatomic cavities that is of non-immune origin.(NICHD)
Concepts Disease or Syndrome (T047)
MSH D015160
ICD9 778.0
SnomedCT 206551005, 157160006, 59928009, 268886003, 276509008, 206538000
English Hydrops foetalis not due to isoimmunization, Nonimmune hydrops fetalis, Hydrops fetalis, nonimmune, Hydrops fetalis, non-immune, nonisoimmunized hydrops fetalis (diagnosis), nonisoimmunized hydrops fetalis, Hydrops fetalis no isoim, NIHF, HYDROPS FETALIS, NONIMMUNE, non immune hydrops fetalis, non-immune hydrops fetalis, Hydrops Fetalis, Non-Immune, Hydrops Fetalis, Nonimmune, Hydrops Fetalis, Idiopathic, Nonimmunes, Hydrops Fetalis, Familial Non-Immune Hydrops Fetalis, Hydrops Fetali, Idiopathic, Nonimmune Hydrops Fetali, Fetalis Nonimmune, Hydrops, Fetalis, Idiopathic Hydrops, Nonimmune, Hydrops Fetalis, Nonimmune Hydrops Fetalis, Fetali, Idiopathic Hydrops, Fetalis Nonimmunes, Hydrops, Hydrops Fetalis Nonimmune, Familial Non Immune Hydrops Fetalis, Idiopathic Hydrops Fetali, Hydrops Fetalis Nonimmunes, Hydrops Fetali, Nonimmune, Idiopathic Hydrops Fetalis, Idiopathic hydrops foetalis, Hydrops foetalis not due to isoimmunisation, Hydrops fetalis not due to isoimmunization, Idiopathic hydrops fetalis, Non-immune hydrops fetalis, Hydrops fetalis not due to isoimmunisation, Idiopathic hydrops fetalis (disorder), Non-immune hydrops fetalis (disorder), Idiopathic hydrops fetalis (disorder) [Ambiguous], Non-Immune Hydrops Fetalis
Dutch hydrops foetalis niet ten gevolge van iso-immunisatie
French Anasarque foeto-placentaire non par auto-immunisation, Anasarque foetoplacentaire non immun, Anasarque foeto-placentaire non immun
German Hydrops fetalis, nicht verursacht durch Isoimmunisation, Hydrops fetalis nicht bedingt durch Isoimmunisierung
Italian Idrope fetale non da isoimmunizzazione
Portuguese Anasarca fetal não causada por isoimunização
Spanish Hidropesía fetal no debida a isoinmunización, Hydrops foetalis no debido a isoinmunización, hidrops fetal idiopático (trastorno), hidrops fetal idiopático, hidrops fetal no inmune (trastorno), hidropesía fetal idiopática (trastorno), hidropesía fetal no inmunológica (trastorno), hidrops fetal no inmune, hidropesía fetal idiopática, hidrops fetal no debido a isoinmunización, hidropesía fetal no debida a isoinmunización, hidropesía fetal no causada por isoinmunización, hidropesía fetal idiopática (concepto no activo), hidropesía fetal no inmunológica
Japanese 非免疫性胎児水腫, ﾋﾒﾝｴｷｾｲﾀｲｼﾞｽｲｼｭ
Czech Hydrops plodu nezpůsobený izoimunizací
Hungarian Nem isoimmunisatio okozta magzati hydrops, Nem isoimmunisatio okozta hydrops foetalis
Norwegian Ikke-immun hydrops foetalis
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Alpha trait thalassemia (C0472762)

Definition (NCI) A condition in which a person has reduced protein production from two of the four alpha-globin alleles.
Concepts Disease or Syndrome (T047)
ICD10 D56.3
SnomedCT 154799003, 234384006, 191187006
LNC LA18583-7
English Alpha trait thalassemia, alpha-thalassemia trait (diagnosis), alpha-thalassemia trait, Alpha Thalassemia Trait, Alpha thalassemia trait (disorder), Alpha thalassaemia trait (disorder), Alpha trait thalassaemia, Alpha trait thalassemia (disorder), Alpha thalassaemia trait, Alpha thalassemia trait
Spanish rasgo de talasemia alfa (trastorno), rasgo de talasemia alfa, alfatalasemia, talasemia de rasgo alfa (trastorno), talasemia de rasgo alfa
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Alpha thalassemia intermedia (C1260396)

Concepts Disease or Syndrome (T047)
Dutch alfa-thalassemie intermedia
French Alpha-thalassémie intermédiaire
German Alpha-Thalassaemie intermedia
Italian Talassemia alfa intermedia
Portuguese Talassemia alfa intermédia
Spanish Alfa talasemia intermedia
Czech Intermediární alfa talasemie
Hungarian Alpha thalassaemia intermedia
English Alpha thalassaemia intermedia, Alpha thalassemia intermedia
Japanese 中間型αサラセミア, ﾁｭｳｶﾝｶﾞﾀｱﾙﾌｧｻﾗｾﾐｱ
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: alpha thalassemia minor (C1260397)

Concepts Disease or Syndrome (T047)
ICD10 D56.3
English Alpha thalassemia minor, alpha thalassemia minor (diagnosis), alpha thalassemia minor
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Hemoglobin H constant spring thalassemia (C2960096)

Concepts Disease or Syndrome (T047)
SnomedCT 447117006
English Hemoglobin H constant spring thalassemia (disorder), Hemoglobin H constant spring thalassemia, Haemoglobin H constant spring thalassaemia, alpha thalassemia hemoglobin h constant spring, alpha thalassemia hemoglobin h constant spring (diagnosis)
Spanish talasemia por hemoglobina H Constant Spring (trastorno), talasemia por hemoglobina H Constant Spring
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Hemoglobin H Disease (C3161174)

Definition (NCI) A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia.
Concepts Disease or Syndrome (T047)
SnomedCT 48553001
Dutch hemoglobine H-aandoening
French Hémoglobinose H
German Haemoglobin-H-Krankheit, Hb-H-Krankheit
Italian Malattia da emoglobina H, Malattia causata da emoglobina H
Portuguese Doença por hemoglobina H
Spanish Enfermedad por hemoglobina H, enfermedad por hemoglobina H (trastorno), enfermedad por hemoglobina H
Japanese ヘモグロビンＨ症, ﾍﾓｸﾞﾛﾋﾞﾝHｼｮｳ
English hemoglobin H disease (diagnosis), hemoglobin H disease, HBH, HEMOGLOBIN H DISEASE, DELETIONAL, ALPHA-THALASSEMIA, HEMOGLOBIN H TYPE, HEMOGLOBIN H DISEASE, Hemoglobin H disease, Haemoglobin H disease, Hemoglobin H disease (disorder), Hemoglobin H Disease
Czech Hemoglobinopatie H
Hungarian Haemoglobinh betegség, Haemoglobin h betegség
Derived from the NIH UMLS (Unified Medical Language System)

Related Topics in Hemoglobinopathies

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