IMPORTANCE OF GENETICS ( AGE ).pptx PBL 2.pptx

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 villus sampling 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.

Genetically the offspring has the chance of inhabiting a major thalassemia around 25% .Being a carrier of Thalassemia 50& And totally unaffected 25 %

AGE And THALASEMIA

Detected at an early stage ( MAJOR ) Conginental Defect in  HBB gene was inherited mutation