II. Background

  1. Thalassemia is derived from Greek word "thalassa" for sea

III. Epidemiology

  1. Thalassemia accounts for one third of all globin abnormalities
  2. Gender: Males and females affected equally
  3. Prevalence of Thalassemia
    1. World wide: 1.7% (4.4 per 10,000 live births)
    2. Among at risk ethnicities: 5-30%
  4. Ethnicity
    1. Alpha Thalassemia
      1. African descent (2% Incidence)
      2. Asian patients (Incidence common)
    2. Beta Thalassemia
      1. Southern Italy and Mediterranean islands (0.1% Incidence)
      2. Central Africa
      3. Southeast Asia

IV. Pathophysiology

  1. Cluster of Autosomal Recessive hematologic disorders affecting Hemoglobin
  2. Globin chain abnormalities result in unbalanced red cells that are susceptible to Hemolysis

VI. Labs

  1. Complete Blood Count
    1. Hemoglobin or Hematocrit consistent with Anemia
    2. Mean Corpuscular Volume (MCV)
      1. Hematocrit >30% and MCV low but >80 fl: Iron Deficiency Anemia more likely
      2. Hematocrit >30% and MCV <75 fl: Thalassemia more likely
        1. Cut-off varies by age (<70 fl up to 6 years, <75 fl in age 7-12, <80 fl in adults)
    3. Red Cell Distribution Width (RDW)
      1. Microcytosis with Normal RDW: Thalassemia is most likely
      2. Microcytosis with Increased RDW: Sideroblastic Anemia, Iron Deficiency Anemia, Thalassemia
    4. Mean Corpuscular Volume to Red Blood Cell Count ratio (applies to evaluation in children)
      1. See Mentzer Index
      2. Ratio <13: Thalassemia
      3. Ratio >13: Iron Deficiency Anemia, Hemoglobinopathy
  2. Normal Iron study indices (no Iron Deficiency Anemia)
    1. Ferritin normal (often >100 ng/ml)
    2. Other iron studies typically not needed unless inflammation is present
      1. Total Iron Binding Capacity normal
      2. Serum Iron normal
  3. Variable Reticulocyte Index
    1. May see Reticulocytosis or Reticulocytopenia
  4. Peripheral Smear
    1. Hemolytic Anemia signs
    2. Red Blood Cell Inclusion bodies

VII. Diagnosis

  1. Hemoglobin Electrophoresis

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Related Studies

Ontology: Thalassemia (C0039730)

Definition (CHV) An inherited form of anemia
Definition (CHV) An inherited form of anemia
Definition (CHV) An inherited form of anemia
Definition (CHV) An inherited form of anemia
Definition (CHV) An inherited form of anemia
Definition (CHV) An inherited form of anemia
Definition (MEDLINEPLUS)

Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.

Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones.

Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant.

NIH: National Heart, Lung, and Blood Institute

Definition (MSHCZE) Dědičné krevní onemocnění, při němž je narušena tvorba bílkovinných součástí krevního barviva hemoglobinu. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.
Definition (MSH) A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
Definition (CSP) heterogeneous group of hereditary hemolytic anemias which have in common a decreased rate of synthesis of one or more hemoglobin polypeptide chains.
Concepts Disease or Syndrome (T047)
MSH D013789
ICD9 282.40, 282.4
ICD10 D56 , D56.9
SnomedCT 154796005, 191192008, 267521001, 267557006, 191193003, 191182000, 40108008, 84188003
English Thalassemia, Thalassaemia NOS, Thalassemia NOS, Thalassaemia, unspecified, Thalassemia, unspecified, thalassemia anemia, thalassemia anemia (diagnosis), Thalassaemias, Thalassemia [Disease/Finding], thalassemia disorder, thalassemias, thalassaemias, syndromes thalassemia, thalassemia (diagnosis), thalassemia, Thalassaemic disorders, Thalassemias, Thalassemia NOS (disorder), Thalassaemia (disorder), Leptocytosis, hereditary, Thalassaemia, Hereditary leptocytosis, Thalassaemia syndrome, Thalassemia (disorder), Thalassemia syndrome (disorder), Thalassemia syndrome, hemoglobinopathy; with thalassemia, leptocytosis; hereditary, anemia; thalassemia, thalassemia; anemia, thalassemia; disorder, hemoglobin, thalassemia; hemoglobinopathy (with thalassemia), Thalassemia syndrome, NOS, Thalassemia, NOS, thalassaemia
Italian Patologie talassemiche, Talassemie, Talassemia NAS, Talassemia
Spanish Hemoglobinopatías talasémicas, Talasanemia, Talasemias, Talasemia NEOM, talasemia, SAI (trastorno), talasemia, SAI, síndrome talasémico (trastorno), síndrome talasémico, talasemia (trastorno), talasemia, Talasemia
Dutch thalassemie NAO, thalassemieën, anemie; thalassemie, hemoglobinopathie; met thalassemie, leptocytose; hereditair, thalassemie; aandoening hemoglobine, thalassemie; anemie, thalassemie; hemoglobinopathie (met t.), Thalassemie, niet gespecificeerd, thalassemie-aandoeningen, thalassemie, Thalassemie
French Thalassémies, Thalassémie SAI, Affections thalassémiques, Thalassémie
German Thalassaemien, Thalassaemie NNB, Thalassaemie, nicht naeher bezeichnet, Thalassaemie, Thalassaemieerkrankungen, Cooley-Anämie, Mittelmeeranämie, Thalassämie
Portuguese Talassemia NE, Talassemias, Afecções talassémicas, Talassemia
Japanese サラセミア, サラセミアNOS, サラセミアNOS, サラセミア
Swedish Talassemi
Czech talasémie, Talasemie NOS, Talasemické poruchy, Talasemie, talasemie, thalassaemia
Finnish Talassemia
Korean 지중해빈혈, 상세불명의 지중해빈혈
Polish Talasemia, Leptocytoza, Niedokrwistość tarczowato-krwinkowa
Hungarian Thalassaemiák, Thalassaemiás betegségek, Thalassaemia, Thalassemiák, Thalassaemia k.m.n.
Norwegian Talassemi