THALASSEMIA
Muhammad Riza
The α chains
The non α chains β,
δ,γ, ε, ζ
Normal Developmental Switching of Human Globin
β chain chromosome 11
α chain chromosome 16
ERITROID cell NORMAL
a - chains b
Gen - a
b - chains a
Gen - b
a2b2 HbA > 96%
Gen - d
d - chains
Gen - g
g - chains d a2d2 HbA2 < 3,5%
g a2g2 HbF < 2%
a = b+ d +g
ERITROID cell β Thalassemia
no HbA
HbA2 ↑
β+ homozygous β+/β+ moderate anemia Thal. intermedia HbA 20-40%
HbF 60-80%
β0 heterozygous β/β0 mild to moderate anemia spleenomegaly ↑HbF and HbA2
jaundice
β+ heterozygous β/β+ mild anemia normal ↑HbF and HbA2
δβ heterozygous δβ/δβ0 same normal HbF 5-20%
as above
HbA2
N/low
ά silent carrier -,α/αα mild anemia normal normal
α trait --/αα mild anemia normal Hb Barts(γ) 5 – 10%
-α/-α
HbH disease -,α/-,- Moderate Thal intermed Hb Bart 20-
anemia 40%,ChildHbH(b4) 4-
20%
Α -,-/-,- Severe anemia Hydrops fetalis Hb Barts80 – 90%
hydrops
no HbA or HbF
...Clinical Forms
• Severe Anaemia
• Hepatosplenomegaly
(Extramedullary Haematopoiesis)
...Clinical Forms
Efek samping Reaksi lokal, gangguan Gangguan GIT, Gangguan GIT, rash,
optalmologis, auditoris agranulositosis, peningkatan kreatinin
(hearing loss), gangguan netropenia, athralgia ringan, gangguan
pertumbuhan, alergi optalmologis, gangguan
auditoris
1. Genetic counselling