# data[].attributes.body
1. ten-year-old boy, was admitted to a health

2. scheduled blood transfusion

program.

3. beta thalassaemia

major (homozygous beta thalassaemia)

4. since he was

one year old.

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

and shortness of breath.

6. He developed splenomegaly,

which got progressively worse and

7. increased his

transfusion requirements.

8. The boy was occasionally

hospitalised due to infections.

9. Both of his parents were

alive and well.

10. He was the second of four children.

# data[].attributes.body
1. severe pallor- reflects severe anaemia, hypoxia, low blood transport

2. mild jaundice - indicate RBC lysis, high bilirubin

3. hepatosplenomegaly- extramedullary hematopoiesis, extravascular haemolysis

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

5. severe anaemia - reflects the thalassemia major

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

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

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

9. low MCV- indicates microcytosis

10. Low MCH- hypochromic

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

12. high PLT- thrombocytosis, secondary to anaemia

13. Low HbA - indicates b+/b+ recessive

14. High HbA2 - a2d2 due to lack of beta

15. 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

# data[].attributes.body
1. beta thalassaemia

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

2. pallor- paleness

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

4. splenomegaly- enlargement of spleen

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

# data[].attributes.body
1. hepatosplenomegaly- enlargement of liver and spleen

2. tachycardia-abnormally high heart rate

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

4. microcytosis- RBC are smaller tan normal, low MCV level

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

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

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

# data[].attributes.body
1. severe pallor

2. mild jaundice

3. hepatosplenomegaly.

4. tachycardia.

5. severe anaemia

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

7. Low Hb

8. low Hct

9. low MCV

10. Low MCH

11. High WBC

12. high PLT

13. Low HbA

14. High HbA2

15. High HbF

# data[].attributes.body
1. anti-Duffy antibody - antibody that targets duffy antigens on RBC (alloantigens)

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

3. iron chelation therapy - remove excess iron, prevent iron overload

# data[].attributes.body
1. anti-Duffy antibody

2. maintained on folic acid

3. iron chelation therapy

4. risk of her future child having the same problem

# data[].attributes.body
1. 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

2. maintained on folic acid - provide folate, support erythropoiesis

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

4. 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

# data[].attributes.body
1. ten-year-old boy

still young

2. 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

5. His condition was associated with pallor

impaired normal RBC production/anaemia

6. loss of appetite

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

7. 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),

8. abdominal distension

due to plasma expansion and

9. shortness of breath

decrease oxygen saturation.

10. He developed splenomegaly

stimulates extra medullary hematopoiesis

increased destruction of RBC

chronic hemolysis (extravascular hemolysis)

increase chance for infection and spleen rupture, splenectomy required

11. 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

12. The boy was occasionally hospitalised due to infections

immune system suppression due to chronic anaemia

13. Both of his parents were alive and well.

carrier, thalassemia minor

didnt do any thalassemia screening

14. 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)