Thalassemia Major: Etiology, Incidence and Treatment

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Thalassemia major ” Cooley’s anemia “

Thalassemia Major

In this article, we will touch on etiology, incidence, prognosis, preventive measures, clinical manifestations, complications, and treatment of thalassemia.

  • Beta-thalassemia refers to inherit the group of blood disorders characterized by a reduction or absence of the beta chain of globulin in hemoglobin syntheses.
  • Hemoglobin b-thalassemia is the most severe of the syntheses and is known as Cooley’s anemia.

What are the main causes of thalassemia?

  • Genetically determined inherited disease.
  • The autosomal recessive pattern of inheritance.

Incidence of thalassemia:

  • Most prevalent in the Mediterranean, Middle East, India, Pakistan, Southeast, Asia, and Africa.

Can thalassemia be cured?

  • No known cure until this moment.
  • often fatal in late childhood or early adolescent.

Preventive measures include:

  • Parents of a child with thalassemia should be tested for the trait and referred for genetic counseling.
  • Prenatal diagnosis terminates pregnancy .

Clinical manifestations include :

  • Insidious onset at the end of the 1st year of life.
  • Pallor, poor feeding, protuberant abdomen due to hepatosplenomegaly, headache, bone pain, exercise intolerance, and easy fatigability and growth retardation.

How does thalassemia affect the body?

  1. Splenomegaly and hepatomegaly due to extramedullary hemopoiesis and rapid destruction of RBCs. coagulation abnormalities.

2. Growth and endocrine complications :

  • Growth retardation.
  • Diabetes in older children due to iron deposition in the pancreas.
  • Adrenal and pituitary dysfunction.

3. Skeletal complication :

  • Maxillary hypertrophy.
  • Broad ribs.
  • Skeletal osteoporosis.

4. Cardiac complication :

  • Arrhythmia, pericarditis, congestive heart failure ” the usual cause of death of thalassemia “.

  • 5. Skin :
  • Brownish discoloration due to iron deposition.
  • Jaundice.

5. Skin :

  • Brownish discoloration due to iron deposition.
  • Jaundice.

6- Recurrent hospitalization for a child affect at the education level and Mental abilities also affected the opposite of children who are in the same age.

Treatment includes:

  • Frequent and regular blood transfusion to maintain a hemoglobin level above 9-10 gm/ dl.
  • Packed RBCs usually used.
  • Iron chelating agent to reduce the toxic side effects of excess iron ” hemosiderosis “.
  • E.g. deferoxamine: desferal.
  • Folic acid.
  • Splenectomy in huge hypersplenism.
  • Bone marrow transplantation.
  • Good nutrition is an essential part of the treatment, such as taking the beneficial elements of vegetables and fruits and avoiding those that get iron.

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