thalassemia presentation

1. Case presentation of a 12 years
old boy with Pallor
Dr. Nafis Sadik
Dr. Samuel Hasan
Intern Doctors
Department of Paediatrics
AKMMCH, Dhaka.
Presenters:

2. ●Name: Master Kawser
●Age: 12 years
●Sex: Male
●Religion: Islam
●Address: Rayerbazar, Dhaka
●Date of Admission: 26.12.24
●Date of Examination: 09.01.25
Particulars of the
patient:

3. ●Pallor & generalized weakness for 8 years
●Yellowish discloration of sclera for same
duration
●History of repeated blood transfusion for
same duration
●Feeling of lump in the abdomen for same
duration
Chief Complaints:

4. History of present illness:
According to the statement of the patient he
was reasonably well 8 years back then he
developed pallor which was mild initially but
became progressive gradually followed by
generalized weakness which was not
associated with ingestion of non nutritious
substances

5. Cont.
He also complained of yellowish
discoloration of sclera for same duration
which was not associated with itching or
darkening of skin.

6. He also gave history of repeated blood
transfusion for same duration which was
not associated with haemorrhage or bony
tenderness.
Cont.

7. He also complained of feeling of lump on
both lateral aspect of anterior abdominal
wall which was not associated with fever,
nausea, vomiting, diarrhea or weight loss.
He's normotensive, non-asthmatic, non-
diabetic patient and his bowel & bladder
habits are normal.
Cont.

8. Past History:
Nothing significant

9. Birth History:
He was delivered at term by
NVD with uneventful perinatal
period

10. Feeding History:
He is on normal family diet

11. Developmental History:
Development is age appropriate

12. Immunization History:
Immunized as per EPI schedule

13. Drug History:
desferoxamine
defepime
Transfusion History:
He gave history of repeated blood
transfusion once in three months

14. Family History:
●He is the 1st issue of
consanguineous marriage
●There is no family history of blood
transfusion

15. His father is a businessman and his
mother is a home maker
Socio-economic History:

16. Personal History:
His mother gave no history of atopy
or any kind of allergy

17. ●Appearance: Frontal bossing,
depressed nasal bridge, malar
prominence, mal-alignment of
teeth
●Anemia: Moderate
●Jaundice: Mild
●Cyanosis: Absent
General
Examination:

18. ●Clubbing: Absent
●Koilonychia: Absent
●Leukonychia: Absent
●Edema: Absent
●Dehydration: Absent
Cont.

19. ●JVP: Not raised
●Lymph Nodes: Not palpable
●Bony Tenderness: Absent
●Back and spine : Normal
Cont
.

20. Vital Signs:
BP: 100/70 mmHg
Pulse: 80 bpm
Respiratory Rate: 24 breaths/min
Temperature: 98 degree F
Cont.

21. ●Weight: 20.5 kgs
●Height: 0.91 metre
●BMI: 25 kg/m2
Anthropometry:

22. Alimentary System Examination:
 Oral Cavity:
●Presence of mal-alignment of teeth
●Lips, gum, tongue & palate looks
normal.
Systemic
Examinations:

23. Abdomen Proper:
● Inspection:
- Shape: Distended
- Position of the umbilicus: Centrally placed
- Flanks: Not full
- No visible peristalsis or engorged vein present
- Skin condition was good
Cont.

24. ●Palpation:
- Superficial Palpation:
Temperature: normal,
Tenderness: absent
- Deep Palpation:
Liver: Liver is palpable, 8 cm from the
tip the right costal margin,along the mid
clavicular line. Lower border is sharp, surface is
smooth, firm in consistency & non-tender.
Cont.

25. Spleen: Spleen is palpable, 9 cm from anterior
axillary line along with it’s long axis, splenic
notch is present. Lower border is sharp, surface
is smooth, firm in consistency and non-tender.
Kidney: Both the kidneys are neither palpable
nor ballotable.
Urinary Bladder: Not palpable

26. ●Percussion: No shifting dullness or fluid
thrill present. Percussion note is dull over
the spleen and the upper border of liver
dullness is in the right 5th
intercostal space
along with the mid-clavicular line.
●Auscultation: Bowel sound is present on
auscultation. No hepatic or splenic bruit
present.

27. Inspection :
RR: 24 breaths/min
Shape of the chest: Normal
Movement: Bilaterally symmetrical
No visible engorged vein or pulsation
Intercostal and subcostal recession: Absent
Palpation :
Trachea centrally placed .
Respiratory System
Examinations:

28. Cont.
Percussion:
Resonant in both lungs field.
Auscultation:
Vesicular breath sound. There was no
added sound.

29. Cardiovascular System Examination
 Examination of Precordium:
Inspection:
Precordium normal, no visible pulsation, engorged vein, deformity.
Palpation:
Apex beat just medial to MCL in left 5th ICS.
No Thrill, left parasternal heave or palpable P2
Auscultation:
S1 & S2 is audible in all four cardiac areas.
No murmur

30. Other Systemic Examinations
Revealed no abnormality

31. Salient Feature

32. Master Kawser, 12 years old male child, 1st issue
of consanguineous marriage, duly immunized as
per EPI schedule hailing from Rayerbazar, Dhaka
admitted to this hospital with the complains of
pallor for 8 years which was gradually progressive
with yellowish discoloration of sclera and
generalized weakness with palpitation &
abdominal distention for same duration which
was not associated with fever, nausea, vomiting,
itching, abdominal pain, weight loss or bleeding
from any sites of the body. His bowel and bladder

33. On examination, he had frontal bossing, depressed
nasal bridge, malar prominence, mal-alignment of
teeth, was moderately anemic and mildly icteric. His
BP was 90/70 mmHg, pulse: 80 bpm, respiratory
rate: 24 breaths/min, Temperature:98◦
F, no
lymphadenopathy or bony tenderness present.
Liver was palpable, 8 cm from the tip of the right
costal margin along with the mid clavicular line.
Upper border of the liver dullness was on the right
5th
intercostal space along with the midclavicular
line.

34. Spleen was also palpable and 9 cm from
anterior axillary line along with it’s long
axis, splenic notch was also present.
Percussion note was dull over the
spleen. Ascites was absent and bowel
sound was present. Other systemic
examinations revealed no abnormality.

35. what could be the
PROVISIONAL DIAGNOSIS?

36. Hereditary Hemolytic Anemia
most probably
'β' (beta) Thalassemia major
PROVISIONAL DIAGNOSIS:

37. DIFFERENTIALS:
Hereditary Hemolytic Anemia (Hereditary
Spherocytosis)
Iron Deficiency Anemia

38. ● CBC(23/05/24)
Investigatio
ns:
Tests Value Reference Value
Hb% 6.2 gm/dl 13-18 gm/dl
ESR 65 mm in 1st
hr. 0-10
TC WBC 12,500/cumm 4000 - 11,000/cumm
RBC 3.5 million/cmm. 4.5 – 6.5 million/cmm.
Platelets 2,50,000/cumm 1,50,000 -4,50,000/cumm
Neutrophil 45% 40-75%
Hematocrit 17% 40-54%
MCV 49 fl 76-94 fl
MCH 17 pg 27-32 pg
MCHC 35 gm/dl 29-35 gm/dl

39. ● PBF(23/05/24)
RBC: Hypochromic microcytic with fair number of
elongated cell.
WBC: Are mature with normal count and distribution.
Platelet: Normal in count & morphology.
Comment: Hypochromic microcytic anemia
Cont.

40. Immunology(24/05/24)
Cont
.
Test Name Value Reference Value
Ferritin 88.52 ng/ml 7.0 – 142.0 ng/ml

41. Report of Hb Electrophoresis of the patient(26/05/24):
Comment: Suggestive of Hb E
beta thalassemia

42. Confirmatory Diagnosis
Hb-E Beta Thalassemia

43. Treatment given in hospital
Diet: Normal
Packed cell transfusion: 10 ml/kg for 2 times
Tab. Follison (5mg) ; 1 tab daily

44. Hb Electrophoresis Reports
of His Parents:
This is the report of his father showing
Beta Thalassemia(Heterozygote)
This is the report of his mother showing
Hb E trait

45. Academic Discussion

46. What is Thalassemia?
Thalassemia is the commonest forms of hereditary hemoglobin
disorder. Thalassemia syndrome result from reduced or absent
production of alpha or beta chain in globin.
What are the common hereditary
hemoglobin disorders?
 Beta Thalassemia:
1. Beta Thalassemia major
2. Beta Thalassemia intermedia
3. Beta Thalassemia minor

47.  Hb E disorders
1. Hb E disease
2. Hb E trait
 Hb E Beta Thalassemia
1. Mild Hb E Beta Thalassemia
2. Moderate Hb E Beta Thalassemia
3. Severe Hb E Beta Thalassemia
Cont.

48. Parents to Offspring Transmission of Beta
Globin Gene:

49. Clinical Features:
The common presentations are–
• Progressive pallor, requiring early
transfusion
• Lethargy and effort intolerance
• Failure to thrive and growth retardation
• Psychological depression
• Recurrent infections
• Problems in movement and abdominal
discomfort because of massive spleno-
hepatomegaly

50. Clinical Signs:
• Moderate to severe pallor
• Mild jaundice
• Changes in facial profiles like frontal and parietal
bossing, depressed nasal bridge, prominent zygoma,
maxillary prominence, mal-aligned jaw and teeth
(Thalassemic facies)
• Complexion: Greenish brown, due to the effect of
combined pallor, haemosiderosis and jaundice
• Growth failure (Stunting)
• Massive spleno-hepatomegaly

51. Pathogenesis:

52. Investigations
A. Blood
• Hemoglobin: Low, depending on
the severity of the disease
• TC & DC: Normal, except when
associated infection (leukocytosis)
or hypersplenism (depleted)
• Platelet count: Usually normal
except in hypersplenism
(Thrombocytopenia)
• Reticulocyte count: Commonly

53. Cont.
B. Radio-imaging:
X-Ray skull shows –
• Increased diploic space
• Hair on end appearance
X-Ray of long bones shows –
• Lacy increased trabecular, mosaic
patterns
• Osteopenia

54. Hematological Profile of Iron Deficiency Anemia &
Beta Thalassemia Major

55. Treatment
The affected children are transfusion dependent. In addition to
regular blood transfusions, they require an integrated supports
from Paediatrician, Haematologist, Psychologist and Transfusion
specialists.
Counsel parents to –
 Understand the disease, its genetics, treatment etc
 Cope up with the disease and encourage self-esteem
 Genetic counseling and how to prevent the disease

56. The major options of treatment are –
 Blood transfusion & Iron chelation
 Stem cell transplantation
 γ chain inducer (Hydroxyurea)
 Gene therapy
Cont.

57. Thalassaemia Prevention:
• Carrier detection: Among the general population through
Lab assessment of blood CBC, PBF, MCV, MCHC &
Haemoglobin electrophoresis. DNA analysis in confirmatory
• Pre-marital counseling: Among the population, specially
among the carriers, how the disease is transmitted from one
generation to the next and how to prevent
• Antenatal detection: When a carrier mother becomes
pregnant, the status of the foetus whether having
thalassaemia major, carrier or normal can be detected by
chorionic villus sampling (CVS) and DNA analysis during 8-
11th weeks of pregnancy

58. 4.10%
6.10%
Prevalence in Bangladesh
This Pie Chart shows: Beta Thalassemia Trait 4.1% ; Hb-E Trait 6.1%

59. Thalassemia Facilities in Bangladesh
 Bangladesh Thalassemia Foundation Blood Bank
Location: Chamelibag, Shantinagar, Dhaka
 Thalassemia Foundation Hospital
Location: Hosaf Tower, Circular road, Malibag, Dhaka
 Bangladesh Thalassemia Samity & Hospital
Location: Green Road, Dhanmondi
 Bangladesh Thalassemia & Cancer Hospital
Location: Banasree, Rampura , Dhaka

60. x
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