4. • Hb E A2 report
– Peak 10% A2
– Peak 10% E
•E F Hb
beta chain
• Bart H Hb
alpha chain
5. alpha thalassemia
• Hb typing rule out Hb H disease
• Bart H CS
Hb H disease
• Alpha thal 1 trait MCV
• Alpha thal 2 trait family history
• DNA analysis rule in, rule out
100%
14. Hb E
• E 80% F E/ E
• E 60-80% F 0/ E
• E 40-60% FA +/ E
• E 25-40% A / E
• E 15-25% A / E alpha thal
trait
15. Typing in beta thalassemia
genotype MCV A2 F+alkF E A
trait / 0 low > 3.5 <3%
E trait / E low with E 1% 25-30% 70-75%
normal
thal 0/ 0, low 2-10% >90% - 0
+/ +
0/ +
0/ E, low with E 20-25% 60-70%
thal/HbE +/ E 10-50% 40+% 10-50%
HbE E/ E low with E 0-20% >80% 0
homo normal
16. Alpha and beta thalassemia
• Alpha thal beta major
• Hb H E homozygous = EF Bart
• Hb H E trait = AE Bart
17. alpha thalassemia with Hb E
genotype MCV IB E F Bart’s
thal1 trait/ --/ Low + 14-22% - -
E trait / E
thal2 trait/ - / Normal Neg 25-30% - -
E trait / E
Hb H/ --/- 60-69 + 13-16% - 2-8%
E trait / E
HbH/ --/- Low Neg 80% 10% 3-4%
E homo / E
18. Father Mother Child 1 Child 2
Hb/Hct 14.2/40 11/32.9 10.4/30.1 9.8/27.4
Retic 0.3 0.2 0.2 1.7
IB - - - -
Hb typing
A 75.5 69.0 71 -
E 24.5 31.0 28.6 100
Alk F 0.26 1.2 1.1 2.8
19. Father Mother Child 1
Hb/Hct 11.8/38 13.5/39.2 9.9/32.6
Retic 0.5 1.1 0.6
IB 1:10,000 - >50%
MCV 52 82 66
Hb typing
A 85.8 96.8 95.0
A2 3.2 1.6
E 14.2
Alk F 1.5 1.0 5.5
24. Types of transfusion program
• Hypertransfusion program
– normalize growth and endocrine function
– pre transfusion Hb level 9.5-10 mg/dl
• Symptomatic transfusion
25. Blood products for transfusion
• Leucodepleted red cells
– less than 5 x 106 WBC/cumm
– pre storage or post storage filtration
– decrease alloimmunization
• Washed red cells
• Blood products should be used within 2
weeks after colllection
30. Iron overload
• Source of Fe
– Blood products (5-10 gm/ year)
– Fe in food (1-2 gm/ year)
• Defined by total body iron of more than 20
gm.
• Gold standard in diagnosis : liver biopsy
• Serum ferritin may be useful as non-invasive
test.
• MRI: T2*
34. Advantages of oral chelators
• More compliance
• More effective for cardiac iron
deposition
35. Consideration before initiating chelation
• Organ damage from Fe overload is not
reversible. ???
• Compliance is the most important
factors for success.
• Complete vision and auditory function
should be done.
36. Desferrioxamine
administration
Initiation
• After 10-20 transfusions
• Serum ferritin more than 1,000
microgram/L
Dose
• 20-40 mg/kg subcut. infusion over 8-12
hours
6 times a week.