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Thalassemia, Types, Traits, Symptoms & Treatment

Thalassemia is a heterogeneous group of blood disorders affecting the hemoglobin genes and resulting in ineffective erythropoiesis. The decreased production of hemoglobin results in anemia in early age and frequent blood transfusions are required to keep up the hemoglobin levels.
authorImageNivedita Dar2 Jan, 2025
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Thalassemia

Thalassemia: the infamous group of genetic blood disorders. A group of blood disorders affecting the hemoglobin genes and resulting in ineffective formation of red blood cells. The decreased production of hemoglobin results in anemia in early age and these patients require frequent blood transfusions to keep up the hemoglobin levels normal.

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Pathogenesis

Thalassemia results from decreased synthesis of alpha or beta chains of hemoglobin (Hb). Hemoglobin serves as the oxygen-carrying component of the red blood cells. It consists of two proteins, an alpha, and a beta. If the body does not manufacture enough of one or the other of these two proteins, the red blood cells do not form correctly and cannot carry sufficient oxygen; this causes anemia that begins in early childhood and lasts throughout life.

Read More - Radiodiagnosis

Types of Anemia

Alpha Thalassemia is caused by alpha-globin gene deletion which results in reduced or absent production of alpha-globin chains. Alpha globin gene has 4 alleles(alternative forms of genes) and disease severity ranges from mild to severe depending on the number of deletions of the alleles. Four allele deletion is the most severe form in which no alpha globins are produced and the excess gamma chains (present during the fetal period) form tetramers. It is incompatible with life and results in hydrops( when there is abnormal presence of fluid in more than one body cavity) fetalis. One allele deletion is the mildest form with little to no clinical symptoms.

Beta Thalassemia

results from point mutations in the beta-globin gene. It is divided into three categories based on the zygosity of the beta-gene mutation. A heterozygous(different alleles on homologous chromosomes) mutation (beta-plus thalassemia) results in beta-thalassemia minor in which beta chains are underproduced. It is mild and usually asymptomatic. Beta thalassemia major is caused by a homozygous(same allele on homologous chromosomes) mutation (beta-zero thalassemia) of the beta-globin gene, resulting in the total absence of beta chains. It manifests clinically as jaundice, growth retardation, hepatosplenomegaly, endocrine abnormalities, and severe anemia requiring life-long blood transfusions. The condition in between these two types is called beta-thalassemia intermedia with mild to moderate clinical symptoms.
  • One mutated gene: Mild signs and symptoms. The condition is called thalassemia minor
  • Two mutated genes: Signs and symptoms will be moderate to severe. This condition is called thalassemia major, or Cooley anemia. Babies born with two mutated beta hemoglobin genes are usually healthy at birth but disease starts to manifest after 6 months of life when fetal hemoglobin (Hb-gamma) disappears and is replaced by adult Hb.
The excess unpaired alpha-globin chains in beta-thalassemia aggregate and form precipitates that damage red cell membranes and result in red blood cell destruction inside the blood vessel. This premature death of red blood cell precursor cells leads to ineffective red blood cell formation and later results in outside the marrow expansion of red blood cell formation.

Diagnosis

Complete blood count (CBC): CBC is often the first investigation in a suspected case of thalassemia. A CBC showing low hemoglobin and low Mean Corpuscular Volume is the first indication of thalassemia, after ruling out iron deficiency as the cause of anemia. Peripheral blood smear: A blood smear (also called peripheral smear and manual differential) is next, to assess additional red cell properties. Thalassemia can present with the following findings on the peripheral blood smear:
  • Microcytic cells (low MCV)
  • Hypochromic cells
  • Variation in size and shape
  • Increased percentage of reticulocytes( red blood cell precursors)
  • Target cells
  • Heinz bodies
Iron studies (serum iron, ferritin, unsaturated iron-binding capacity (UIBC), total iron-binding capacity (TIBC), and percent saturation of transferrin) are also done to rule out iron deficiency anemia as the underlying cause.

Thalassemia FAQs

Is Thalassemia fatal?

Thalassemia can be fatal if not properly managed, particularly in severe forms like beta-thalassemia major.

Most common cause of death in Thalassemia?

The most common cause of death in thalassemia is heart disease due to iron overload from frequent blood transfusions.

Why does iron overload happen in Thalassemia?

Iron overload happens in thalassemia due to regular blood transfusions and increased intestinal iron absorption.

Is Thalassemia curable?

Thalassemia is not generally curable, but treatments like blood transfusions, iron chelation therapy, and bone marrow transplants can help manage the condition. Bone marrow transplants may offer a potential cure for some patients.
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