IMPORTANCE OF

GENETICS ( AGE )
TRIGGER : BETA THALASSEMIA MAJOR

General Idea

Cytogenetics in medicine.

Discover the linkage of the condition of patient to the parents

Prevention of other offspring with the same condition.

Manifestations of the infant

HBB Gene has been mutated

The patient condition is conginental

CYTOGENETICS IN MEDICINE
( HOW ) ?
( 1 ) Chorionic villussampling involves taking a small sample of the placenta for DNA

testing at about 11 weeks to 14 weeks of pregnancy.

( 2 ) Amniocentesis, in which the amniotic fluid surrounding your baby is tested at between
15 weeks and 18 weeks of pregnancy.
( 3 ) Fetal blood sampling, during which a blood sample is taken from the umbilical cord
between 18 weeks and 21 weeks.

enetically the offspring has the chance of inhabiting

major thalassemia around 25% .
ing a carrier of Thalassemia 50&
d totally unaffected 25 %

AGE And THALASEMIA

Detected at an early stage ( MAJOR )

Conginental

Defect in HBB gene was inherited mutation