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 M
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Anemia

Anemia Updated: 07/13/2024 © Jun Wang, MD, PhD   General features Decrease in red cell mass Hemoglobin: Levels of hemoglobin in a specific volume of whole blood Hematocrit: Fraction of whole blood composed of red blood cells Red cell count: Quantity of red cell in a specific volume of whole blood Three major groups based on RBC sizes Microcytic Normocytic Macrocytic Three major causes Blood loss: acute or chronic Increased red cell destruction: hemolysis Reduced production: marrow failure due to genetic abnormality or nutritional deficiency Etiology Genetic abnormality Hemoglobinopathies RBC cytoskeletal abomorlities Enzyme abnormalities Fanconi anemia Nutritional deficiencies: iron, VB12, folate, general malnutrition Physical etiologies: trauma, burns, frostbite, prosthetic valves, etc Chronic diseases: chronic infections, neoplasia, autoimmune disorders, kidney or liver diseases, etc Infectious diseases: hepatitis, sepsis , malaria, etc
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Practice questions Anemia I

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Practice questions Anemia I © Jun Wang, MD, PhD   Abbreviations: Hb: hemoglobin HCT: hematocrit MCV: Mean Corpuscular Volume MCHC: Mean Corpuscular Hemoglobin RDW: Red Cell Distribution Width TIBC: total iron binding capacity   1. Use this case for the next three questions . A 25-year-old woman is brought to the emergency department 2 hours after being involved in a motor vehicle accident. She is conscious but feels dizziness and weakness.   Her blood pressure is 90/60 mmHg, and her heart rate is 120 beats per minute. Physical examination reveals pale skin and mucosa and a 15 cm laceration on her left thigh with significant bleeding. What are most likely the CBC and TIBC results? A. Low Hb, low HCT, high MCV, high RDW, high TIBC B. Low Hb, low HCT, slightly low MCV, normal RDW, normal TIBC C. Low Hb, low HCT, slightly high MCV, normal RDW, normal TIBC D. Normal Hb, normal HCT, normal MCV, normal
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