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obstetrics_1.2_thalassemia (alpha thalaessmia: alpha globin chain (5%)…
obstetrics_1.2_thalassemia
thalassemia carrier screening (wife and husband)
CBC
MCH <27
hypochromic
MCV <80
microcytic
Hb <15/13
anemia
history
physical examination
iron profile (Fe, TIBC, ferritin)
hemoglobin pattern, blood film
alpha thalassemia
inclusion bodies
5% alpha carrier no inclusion bodies
HbA2
EXCLUDE BETA <3.5%
HbA
beta thalassemia
HbA
HbA2
(lower in iron deficiency anemia) >3.5% (iron replacement, HBP again)
inclusion bodies
NOT EXCLUDE ALPHA no
meaning
thalassemia carrier
iron deficiency anemia
alpha-beta
beta guy: DNA study (alpha gene)
prenatal counselling
IVF
pre-implantation genetic diagnosis
others things kept constant
alpha-alpha
(1st) USG 12-20 weeks, every 2 weeks (cardiothoracic ratio >50%
middle cerebral artery peak systolic velocity >1.5 MoM
placental thickness >2SD
(2nd) CVS/amnio (alpha gene)
couple: DNA study (alpha gene)
beta-beta
(2nd) CVS/amnio (alpha gene)
couple: DNA study (alpha gene, beta gene) CONCOMITANT
definition
(a up, y up) (HbF; a2y2)
(3-6 months after birth) (b up, y down) (HbA: a2b2)
(always y) (HbA2: a2d2)
hemoglobin: hemo + 4 globin chains
autosomal recessive
alpha thalaessmia: alpha globin chain (5%) (chromosome 16: 4 genes: deletion)
(0/4) Hb Bart (y4)
alpha thalassemia major
hydrops fetalis (2/4) (ascites, pleural effusion, pericardial effusion, skin edema)
UP (cardiomegaly, splenomegaly)
DOWN (anemia/hypoxia, limb reduction)
MOTHER pre-eclampsia
:cry: BABY intrauterine death
too high oxygen affinity
(1/4) HbH (b4)
x transfusion
(2/4) alpha thalassemia trait
(--/aa) (-a/-a)
x transfusion
(3/4) alpha thalassemia trait
(-a/aa)
x transfusion
beta thalassemia: beta globin chain (3%) (chromosome 11: 2 genes: point mutation) b: normal b+: reduced production b0: no production
beta thalassemia major
(no, no) or (no, reduced)
fetus (HbF: a2y2: okay)
adult (HbA: a2b2: no)
adult (HbA2: a2d2: yes)
hepatosplenomegaly
v transfusion
Cooley's facies
beta thalassemia intermedia
(reduced, no) or (reduced, reduced)
fetus (HbF: a2y2: okay)
adult (HbA: a2b2: some)
adult (HbA2: a2d2: some)
x transfusion
beta thalassemia minor
(normal, no) or (normal, reduced)
fetus (HbF: a2y2: okay)
adult (HbA: a2b2: some)
adult (HbA2: a2d2: some)
x transfusion
alpha thalassemia major Rhesus isoimmunization twin-twin transfusion hypothryoidism