PBL 2 Session 1 Haematology by https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl PBL group 3 en-us 2025-01-15 14:52:59 UTC 2025-07-22 09:48:16 UTC hello@padlet.com TRIGGER 1 https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296013866 2025-01-19 02:28:40 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296013866 TRIGGER 2 https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296013964 2025-01-19 02:29:11 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296013964 TRIGGER 3 https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296014099 2025-01-19 02:29:43 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296014099 Trigger 1 https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296022949

  • beta thalassaemia

    major- genetic blood disorder that causes severe anaemia, homozygous recessive

  • pallor- paleness

  • abdominal distension- accumulation of fluid in abdomen causing expansion (ascites)

  • splenomegaly- enlargement of spleen

  • transfusion- procedure to provide a patient with a specific part or parts of blood

    • ]]>     2025-01-19 03:04:10 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296022949     trigger 1 https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296023678

  • ten-year-old boy, was admitted to a health

  • scheduled blood transfusion

    • program.

    3. beta thalassaemia

    major (homozygous beta thalassaemia)

    4. since he was

    one year old.

    1. His condition was associated with pallor, loss of appetite, unusual tiredness, abdominal distension

    and shortness of breath.

    1. He developed splenomegaly,

    which got progressively worse and

    7. increased his

    transfusion requirements.

    8. The boy was occasionally

    hospitalised due to infections.

    1. Both of his parents were

    alive and well.

    1. He was the second of four children.

    ]]>     2025-01-19 03:06:55 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296023678     trigger 1 https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296028529

  • ten-year-old boy

    • still young

  • scheduled blood transfusion program

    • require blood transfusion (severe anaemia)

    • ineffective erythropoiesis

    • to maintain Hb level to reduce symptoms,

    • 3. beta thalassaemia major (homozygous beta thalassaemia)

    • transfusion dependent

    • hereditary disease contracted from parents

    • distrupt normal formation of HbA

    • gene mutation (no beta gene synthesis or very small amount)

    4. since he was one year old.

    • parents inaware of genetic disorder

    1. His condition was associated with pallor

      • impaired normal RBC production/anaemia

    2. loss of appetite

      • due to plasma expansion/iron absorption in intestine, gastrointestinal hypoxia (impaired GI motility),

    3. unusual tiredness

      • due to hemolysis (hypoxia)

      • ineffective erythropoiesis (erythropoiesis in BM, create man y red cell precursors, at same time develop erythroferrone, low serum hepcidin level, increase iron absorption at enterocyte),

    4. abdominal distension

      • due to plasma expansion and

    5. shortness of breath

      • decrease oxygen saturation.

    6. He developed splenomegaly

      • stimulates extra medullary hematopoiesis

      • increased destruction of RBC

      • chronic hemolysis (extravascular hemolysis)

      • increase chance for infection and spleen rupture, splenectomy required

    7. increased his transfusion requirements

      • iron overload, maybe due to at this age, cumulative effects of disease and treatment progressively evidence such as iron overload and organ damage

    8. The boy was occasionally hospitalised due to infections

      • immune system suppression due to chronic anaemia

    9. Both of his parents were alive and well.

      • carrier, thalassemia minor

      • didnt do any thalassemia screening

    10. He was the second of four children.

      • 25% percents of chance, his sibling can be carrier as well


    further diagnosis:

    1. ferritin serum level test- indicates elevated iron overload, prompting the need for iron chelation therapy

    2. liver function test - to evaluate liver damage by iron overload

    3. Hb analysis- no HbA, low HbF, normal HbA2

    4. genetic testing- confirmation mutation of beta globin chain

    5. FBC- check anaemia severity, low MCV, high RDW

    6. CT scan - appearance of hair on end at skull due to thining cortex of many bones with tendency of fracture

    7. iron studies- serum ferritin and tranferrin saturation and STfC

    8. physical examination- delayed growth and cardiac damage, delayed puberty

    9. history taking- previous iron chelation therapy, ask if parents/ siblings have symptoms associated with thalassemia (maybe during infection/pregnancy)

    ]]>     2025-01-19 03:24:37 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296028529     trigger 2 https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296034405

  • hepatosplenomegaly- enlargement of liver and spleen

  • tachycardia-abnormally high heart rate

  • hypochromia- RBC less colour than normal, low MCH level, low amount of Hb in RBC

  • microcytosis- RBC are smaller tan normal, low MCV level

  • polychromasia- multicolour of RBC, INCREASE RETICULOCYTES ( reticulocytosis), indicates haemolytic anaemia

  • target cell- RBC that appear to have bulls eye appearance, imbalance between volume and its Hb content

  • circulating nucleated RBC - immature form of RBC in peripheral blood, indicates compensation of RBC

    • ]]>     2025-01-19 03:44:18 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296034405     trigger 2 https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296035485

  • severe pallor

  • mild jaundice

  • hepatosplenomegaly.

  • tachycardia.

  • severe anaemia

  • hypochromia, microcytosis, polychromasia, target cells, circulating nucleated red blood cells and reticulocytosis

  • Low Hb

  • low Hct

  • low MCV

  • Low MCH

  • High WBC

  • high PLT

  • Low HbA

  • High HbA2

  • High HbF

    • ]]>     2025-01-19 03:48:01 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296035485     TRIGGER 2 https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296041433

  • severe pallor- reflects severe anaemia, hypoxia, low blood transport

  • mild jaundice - indicate RBC lysis, high bilirubin

  • hepatosplenomegaly- extramedullary hematopoiesis, extravascular haemolysis

  • tachycardia- underlying cardiac problem, indicates iron overload( haemochromatosis),increase hemosidorosis by transfusion,

  • severe anaemia - reflects the thalassemia major

  • hypochromia, microcytosis, polychromasia, target cells, circulating nucleated red blood cells and reticulocytosis (redemption to haemolysis)

  • Low Hb - genetic mutation that reduce body's ability to produce Hb, indicates anaemia

  • low Hct- indicates that a large proportion of the blood volume is plasma with fewer RBC present

  • low MCV- indicates microcytosis

  • Low MCH- hypochromic

  • High WBC- borderline (not so high), probably from the transfusion or infection, increase BM activity

  • high PLT- thrombocytosis, secondary to anaemia

  • Low HbA - indicates b+/b+ recessive

  • High HbA2 - a2d2 due to lack of beta

  • High HbF - a2y2 due to lack of beta


    • FURTHER INVESTIGATION

    1. bone marrow biopsy - to check hemosiderin level

    2. serum iron test - for iron level in b thalasemia

    3. liver function test- for AST/ALT

    4. serum ferritin level check

    5. CT scan

    6. physical exam - chipmunk appearance

    7. iron chelation therapy - confirmation history of the test

      • andministration through subcutaneous or iv

      • excrete through urine or feces

    8. urine test - jaundice monitoring




    ]]>     2025-01-19 04:10:38 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296041433     trigger 3 https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296042223

  • anti-Duffy antibody - antibody that targets duffy antigens on RBC (alloantigens)

  • folic acid - vitamin B9, prevent folate deficiency anemia (megaloblastic anemia)

  • iron chelation therapy - remove excess iron, prevent iron overload

    • ]]>     2025-01-19 04:14:32 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296042223     trigger 3 https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296042803

  • anti-Duffy antibody

  • maintained on folic acid

  • iron chelation therapy

  • risk of her future child having the same problem

    • ]]>     2025-01-19 04:16:19 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296042803     https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296043200 2025-01-19 04:18:15 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296043200 trigger 3 https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296050733

  • anti-Duffy antibody - blood transfusion to prevent alloimmunization//presence of duffy antigens in donor blood//relates to blood disorder(resistance to malaria)// leads to blood coagulation// exposed to duffy antigens reviously. Administer duffy antigen negative blood

  • maintained on folic acid - provide folate, support erythropoiesis

  • iron chelation therapy - remove excess iron, prevent iron overload, administer deferoxamine (iv,subcutaneous/excretion through urine), deferasirox (oral/excreted through faeces)

  • risk of her future child having the same problem - genetic screening, prenatal screening, educate on risks, suggest ivf (allow couples select healthy embryo)

    pregnancy plans? intrauterine transfusion

    -chance of child born w thalassemia is 1/4 (25%)


    • TREATMENT

    • bone marrow transplant/HPSC transplant

    • ICT

    • blood screening for compatible blood donor

    • increased blood transfusion frequency

    • Gene therapy

    • splenectomy



    ]]>     2025-01-19 04:45:40 UTC https://padlet.com/5bn772zkmd/9ynh4cseuh58ispl/wish/3296050733