Please enable JavaScript.
Coggle requires JavaScript to display documents.
obs_1.2_thalassemia (prenatal counselling (Fe overload, Fe chelating agent…
obs_1.2_thalassemia
-
-
-
-
-
iron profile (Fe, TIBC, ferritin)
hemoglobin oattern, blood film
alpha
- HbA
- HbA2 <3.5% EXCLUDE BETA
- inclusion bodies (5% carrier/Hbh no) NOT EXCLUDE ALPHA
beta
- HbA
lower in iron deficiency: 1st Fe replacement nd hemoglobin pattern again) - HbA2 >3.5%
- no inclusion bodye
-
-
-
-
-
-
-
(a up, y up)
HbF: a2y2
3-6 months after birth
(y down, b up)
HbA: a2b2
(some d)
HbA2: a2d2
a thalassemia: a globin chain: 5%
(chromosome 16: 4 genes)
deletion
a0: one side 0/2
a+: one side 1/2
a: normal
b thalassemia: b globun chain: 3%
(chromosome 11: 2 genes)
point mutation
b0: no production
b+: fewee production
b: normal
-
-
2/4 a thalassemia trait: a0
(heterozygous a0: one no, one two)
(homozygous a+: one one, one one)
3/4!a thalamssemia trait
(a+: one one, one two)
b thalassemia major: (no, no) or (no, some)
fetus: HbF: a2y2
adult: no HbA: a2b2
become HbA2: a2d2
b thalassemia intermedia: (some, no) or (some, some)
fetus: HbF: a2y2
adult: some HbA: a2b2
some HbA2: a2d2
b thalassemia minor: (normal, no) or (normal, some)
fetus: HbF: a2y2
adult: some HbA: a2b2
some HbA2: a2d2
(too high oxygen affinity)
UP: cardiomegaly
UP: hepatosplenomegaly
DOWN: anemia/hypoxia
DOWN: limb reduction
DOWN: pre-eclampsia
!!!intrauterine death!!!
-
-
-
-
-
-