Thalassemia

Thalassemia

Updated: 07/12/2024

© Jun Wang, MD, PhD

 

General features

Pathogenesis

  • Various abnormalities from gene expression to posttranslational assembly
  • Defects in Hb synthesis
  • Affects adult hemoglobin, HbA, composed of 2 a chains (4 a globin genes) and 2 b chains (2 b-globin genes)
  • Relative excess of the other globin may damage RBC

Diagnosis

  • Family history
  • Physical examination
  • Laboratory findings of anemia with high RBC, low reticulocytes and hemolysis
  • Need to rule out iron deficiency
  • Confirmation
    • Hemoglobin electrophoresis
    • HPLC hemoglobin analysis
    • Genetic testing of globin genes

Management

  • Transfusions for severe cases only
  • Folate supplementation
  • Prevention of iron overload

 

 

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Contents

Pathology notes Jun Wang, MD, PhD 1. General information Frequently discussed syndromes Terms of dermatology Terms of hematology 2. Primary immunodeficiency disorders 3. Hemodynamic abnormalities Shock Thrombosis and embolism Bleeding disorders 4.  Benign blood cell disorders Anemia Benign white cell disorders 5. Hematopoietic neoplasms Lymphoid neoplasms Myeloid neoplasms Histiocytic neoplasms: Langerhans cell histiocytosis 6. Cardiovascular system Pulmonary hypertension Cardiovascular system tumors 7. Respiratory tract tumors 8. Gastrointestinal tract Congenital disorders Infectious gastroenteritis Oral cavity Esophagus Stomach Intestinal tumors Salivary glands Exocrine pancreas and gallbladder 9. Urinary system Kidney masses Lower urinary tract 10. Male reproductive system 11. Female genital tract 12. Breast 13. Endocrine organs Pituitary gland Adrenal gland Thyroid gland Parathyroid gland Endocrine pancreas...
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Anemia

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