Thalassemia

Normal RBC

thalassemia
genetic autosomal
recessive
Thalassemia trait gene thalassemia
gene

pathogenesis

( )
( )

General pathology

Type

Hb Barts hydrop fetalis

Homozygous Beta thalasemia
Beta-thalassemia/HbE disease
HbH disease
HbH disease with constant spring
Thalassemia AE barts

Type
Barthydrop fetalis
Thalassemia major
Homozygous beta-thalassemia
Beta-thalassemia/HbE disease

Thalassemia minor
HbH
HbH/Constant Spring
AEBarts disease

Thalassemia trait

Sign and symptom

thalassemia
HbBarts hydrop fetalis

 Thalassemia major

 Thalassemia minor

 Thalassemia trait
MCV
80 fl

treatment
Blood transfusion 2
Low transfusion on demand PRC
Hb 5-7 g/dl 10 ml/kg 3 hr
diuretic PRC monitor BP,PR
PRC

 High transfusion


2-4
Hb 10 g/dl


iron overload
reticuloendothelial system
collagen formation
(hepatic fibrosis)

(arrhythmia) (heart failure)
thalassemia major


iron overload

hypogonadism (infertility)
hypothyroid pituitary


(Desferoxamine, Desferal)
Indication
High transfusion
Serum feritin > 1000 ng/ml ( 2 3 )
20-30
40 mg/kg/day continuous subcutaneous infusion 8-10 hr/day
5-7 day/week


Indication
5 yr
Splenomegaly > 6 cm BLCM with pressure symptom

hypersplenism