??????????? (Thalassemia)

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???????????????? 27 ??????? 2554
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??????????? (Thalassemia) ????????
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Hemoglobin
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Globin Gene Expression
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Normal Hemoglobin Synthesis
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Thalassemia
b / b
aa / aa
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Hemoglobinopathies
b / b
aa / aa
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b-globin ?? 2 ??? (?????? 1 ??? b/b) ??????? 1
??? heterozygous (trait) ??????? 2 ???
homozygous (disease)
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a-globin ?? 4 ??? (?????? 2 ??? aa/aa)
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??? Thalassemia ??????????
HbBarts Hydrops Fetalis
a-thal1 / a-thal1
Homozygous b-Thal
b0-thal / b0-thal
b-Thalassemia / HbE
b0-thal / HbE
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???????????? Thalassemia ??????????

1. ????????????????????????
2. ???????????????????????
3. ???????????????????????????????
4. ???????????????????????????????

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One-Tube Osmotic Fragility (OF) Test
??????????? ???????????????
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DCIP Test
??????????? Hb ????????????
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Hb Typing by HPLC
Variant HPLC Adult
Hb Type HbF HbA2 / E
A2A (Normal) 0-1.5 2 to lt3.5
A2A (b-thal trait) 1-5 3.5 to lt10
A2FA (Homo b-thal) 20-90 2-9
EFA (b-thal / E) 10-30 20-50
EF (b0-thal / E) 15-40 40-60
EA (HbE trait) 1-5 25-30
EE (Homo E) 1-10 90-100
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Guideline for Thalassemia workup in Pregnancy
MCV OF DCIP
Hb Typing
Not Risk Couple
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Couple 1
MCV 72 fL OF Positive DCIP Negative
MCV 68 fL OF Positive DCIP Negative
Hb typing A2A (A2 lt 3.5)
Hb typing A2A (A2 4.5)
PCR for a-thal 1 Positive
PCR for a-thal 1 Positive
???????????????????? ?
????????????????? HbBarts hydrops fetalis
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Couple 2
MCV 70 fL OF Positive DCIP Negative
MCV 82 fL OF Negative DCIP Positive
Hb typing EA (E 30)
Hb typing A2A (A2 4.8)
???????????????????? ?
????????????????? b-thal / HbE
????????? HbBarts hydrops fetalis ????????
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Couple 3
MCV 70 fL OF Positive DCIP Negative
MCV 65 fL OF Positive DCIP Negative
Hb typing A2A (A2 4.8)
Hb typing A2A (A2 5.2)
???????????????????? ?
????????????????? Homozygous b-thal
????????? HbBarts hydrops fetalis ????????
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Possible Risk Couples
PCR for a-thal 1
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Possible Risk Couples
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Possible Risk Couples
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???????????? a-thal 1 ???? b-thal ???????
a-thal 1 ? b-thal ?
A2A (OF or MCV lt 80) A2 gt 4
HbE trait (low E lt 25) Borderline A2 (3.5-4 )
Homozygous HbE High HbF
b-thal trait
b-thal / HbE
Homozygous b-thal
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??????????????????????????????????
??????????????? ???????????????????????????????
Thalassemia ??????????????????????????????????????
????????
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???????????????????????????????????????????????? ?
???????????????? ????????????? ??????????????????

• OF Test
• DCIP Test
• Hb Typing (HPLC, CE)
• Thalassemia step 1 (RBC indices, IB, Hb typing)
• Thalassemia step 2 (a-thal 1 and a-thal 2)
• PCR for a-thal1 (--SEA, --THAI), (5 deletions)
• Multiplex PCR for b-thalassemia

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Thank you for your attention