THALASSAEMIA Case report presentation edit

Thalasemia

1. Thalassaemia case


Presenter: Dr Chow Suet Yin
Family medicine specialist
KK Taman Medan

1

2. Child’s details
• Magdelina Myel, Sabahan Dusun girl
• Born full term (39 weeker), BW 3.23kg
• Delivered at HTA via SVD on 20/7/21, AS 9(1), 10 (5)
• Discharged to the nearest KK for continuation of growth and
development

• Youngest out of 2 siblings
• Eldest sister born in august 2020 – Thalassaemia status only known
on 16/8/2022


2

3. 3

❑ No chop from the doctor
❑ No documentation of plan of discharge
❑ No documentation of child possibility of thalassaemia
major
❑ No suggestion to enrol mother into PPC in view that
patient and husband are thalassaemia carrier

4. Mother’s Antenatal history
4





1
st
pregnancy

5. Mother’s antenatal history- 1
st
pregnancy
5





• 1
st
pregnancy in 2020, booked at KK Kelana Jaya on 18 Feb 2020
- Late booker at 15 weeks but did scan at private clinic at 6 weeks & 12
weeks. REDD given 9/8/2020
- At booking, FBC parameters:

FBC parameters Results
Hb 9.0
MCV 60.7
MCH 19.4
TWBC 12.1
Platelet 402
MCHC 32
•

•
FBP and serum
ferritin were ordered
Blood taken on 19
Feb 2020
• Given zincofer

6. 3
rd march 2020- about 18 weeks POG
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• Ferritin was 81 (normal value)
• FBP pending

• Continue Zincofer 1 tab OD

7. 31/2/2020: 21 wk 2D POG
• Hb remained low- 8.8 (ferritin
level is normal)
• Full blood picture: Features are
suggestive of iron deficiency
anemia with reactive
thrombocytosis. Suggestion: iron
study

• Mentzer index: 13.3 (more to IDA,
than thalassaemia)
• Advise for high iron diet and
continue zincofer
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8. 15/4/2020: 23W 8D POG
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• Hb not improving much- 8.3
• Case was referred to FMS, tagging yellow
• Further history: Aunt has thalassaemia
• Plan: For hb analysis today. If Hb analysis normal, for parenteral iron,
continue Zincofer

• Blood was taken that day

9. 30/4/2020: 25W 9D POG
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• Hb still not improving much – 8.7, Hb analysis still pending

10. 18/5/2020: 28W 3D POG
10





• Hb 8.4 (dropped)
• Hb analysis STILL PENDING

11. 3/6/2020: 30W 3D POG
• Hb 8.6
• Hb analysis result came back as:
Consistent with beta thalassaemia trait.
Suggestion: Family screening

• Plan:
1) Repeat ferritin, kiv withhold zincofer,
trace ferritin next tca
2) Zincofer was still given

**no documentation of husband to be
screened for thalassaemia(seen by MO A)
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12. 17/6/2020: 32W POG (seen by MO B)
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• Hb 9.5, repeat ferritin 44
• Plan: continue monthly scan, continue folic acid.

• ** Zincofer was continued
• ** no documentation of husband to be screened for thalassaemia

13. 1/7/2020: 34W 3D POG
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• Hb went up to 9.6, no documentation of husband screening for
thalassaemia

14. 20/7/2020: 37W POG (RME 2)- seen by MO C
14





• Hb went up to 10
• Scan done: growth parameters documented as at normal centile (not
written within 5
th
or 50
th
or 90
th
centile) and no growth chart plotted
despite written as within normal centile
• No documentation of screening of husband status for thalassaemia

15. 27/7/2020: 38 weeks POG
15





• No Hb repeated
• Had ? Breast lump- referred to MO D , told to continue TCA
• Didn’t examine the pt, not referred to breast clinic

16. 3/8/2020: 39W POG
16





• No repeated Hb
• Refer again for breast lump

• Plan: refer to breast clinic
• For IOL assessment at HTA KL on 15/8/2022 (EDD+ 6D) if still not
delivered yet

• 13/8/2020: 40W 4D POG, noted hb 10.3, for admission as planned

17. Delivery for 1
st
pregnancy
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NO documentation written for the
discharge summary
Not written to enrol in Pre-pregnancy
care

18. 18










Postnatal care in KKKJ

• NO documentation of postnatal been
done in the book
• Patient not enrolled in PPC
• No thalassaemia screening for the
baby girl
• No contraception given/offered ?
Defaulter

19. 19










2
nd
pregnancy

20. 1
st
booking 29/1/2021

• Late booker
• Unsure of dates
• Poor spacing (LCB Aug 2020, was not
on any contraception)
• Pt claimed told be thalasaaemia but not
sure the type (unable to trace the
system in TPC as system was down and
pt didn’t bring old ANC book)
• Hb : 9.9
20

21. 5/3/2021: 19W 4DPOG (REDD26/7/2022)
• Hb drop to 9.0
• R/V old ANC ANC book: documented as beta thalassaemia trait
• Plan:
1) Change to maltofer
2) Send for ferritin
3) No documentation of husband thalassaemia status



21

Seen by MO NS

22. 22/3/21: 22W POG

• Hb drop to 8.6
• Continue maltofer, trace ferritin
• NO REFERRAL TO FMS
• Tagging yellow (correct) but not
documented as beta thal trait in
the front page




22
Seen by MO G

23. 5/4/21: 24 W POG- seen by MO AD
23





• Hb 8.8, MCV 65.5, MCH 20.1
• on maltofer, compliant to treatment, ferritin: documented as to trace
ferritin

24. 3/6/2021: 32 W 3D POG- seen by MO AD
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• Hb 8.8, MCH 19.2, MCV 62.5
• Ferritin was actually not taken
• To do take ferritin today

25. 17/6/2021: 34 W POG- seen by MO SH
25





• Hb 8.4 , ferritin still pending (but confirmed taken)
• No documentation of husband status

26. 15/7/2021: 38W POG-RME 2 done
26





• Hb 8.1, ferritin 14
• no documentation of husband status

27. Delivery details



































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28. Postnatal and RME 1 for baby
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No plan to screen the child
despite knowing that the
mother has thalassaemia trait

29. 29




















MO YHL noted
mother had beta
thalassaemia trait
but also no plan for
screening for the
child

30. 30


Weight starting to plateau at 5 months but
still within the normal centile

31. 31


Length stared to plateau
BMI growing appropriately

32. 11/1/21 : 5 months fup- seen by nurse
32





• Since all parameters were within normal range (lingkungan
putih- normal), case not referred to MO
• Patient then moved back to KK Keningau

33. Weight plateau from 5 months to 7 months
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34. 14/3/2022: 7 months old
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• Nurse noted child looks pale
• Mo saw the case, hb 4.7
• Referred to ED HTA immediately

• Hb analysis: confirmed beta thalassamia major
• Father is beta thalassaemia carrier

35. Lessons to learnt
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Primary care
- Anaemia history taking need to include family history of thalassaemia
- Always think of thalassaemia if MCV very low + ferritin normal level and Hb
not responding as what it is supposed to be (not to depend fully on FBP)
- All anaemia cases 7-9g/dL must be referred to FMS for consultation
- Husband screening should be done the moment patient is diagnosed with
thalassaemia trait
- Always look at the ANC book when reviewing the baby so that any missing
information could have been detected (husband’s screening not done)
- Intepretation of growth chart by nurses need to be addressed
- Different MOs each time TCA- none spend a bit more time to look at the
case thoroughly (that time, almost all MOs and FMSes pulled over to CAC
Malawati – during 2021)

36. 36









• Secondary care
- Documentation not done properly
- Screening of husband ? Not done or not documented
- Patient not enrolled in pre-pregnancy care
- Could have given TCA at the hospital for the child to do the Hb
analysis (instead discharged to KK without any proper plan)

37. All levels must be addressed
37





• Child wellbeing and child health is everyone’s responsibility (all levels-
primary, secondary and tertiary)

38. Thank you!
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