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rbc 4 unstable Hb: malaria (adult (HbF (α2γ2), HbA1 (α2β2), HbA2 (α2δ2)),…
rbc 4 unstable Hb: malaria
0/4 hydrops fetalis (dead)
γ4: Hb Barts
fetus
HbF
α2γ2
adult
HbF
α2γ2
HbA1
α2β2
HbA2
α2δ2
α thalassemia trait
2/4: α0 homozygote
3/4: α+ heterozygote
1/4: Hb H disease (non-transfusion dependent thal)
β4: Hb H
blood film
golf ball cell
teardrop cell
target cell
PCR
SEA deletion
β thalassemia major
β0/β0, β0/β+
clinical
iron overload
hepatosplenomegaly
bone expansion, x-ray: hair-on-end
high performance liquid chromatography HPLC
high HbF, x HbA1
blood film
target cells
(nuclear) Howell-Jolly bodies (ribosome) basophilic strippling
normoblast
β thalassemia minor
β/β0, β/β+
HPLC
n HbA1, high HbA2
β thalassemia intermedia (non-transfusion dependent thal)
β+/β0, β+/β+
HPLC
high HbF, l/n HbA1
α thalassemia :smiley: extra α genes :cry:
chrom 11: β-like gene
subtitution (many)
β0: complete inactivation
β+: reduced production
chrom 16: α-like gene
deletion
α1
α2
after birth 3-6 m: γ chain to β chain: β thalassemia