Genetic disorders

SICKLE CELL ANEMIA CODOMINANT RBC appear sickle-shaped and reduced ability to carry oxygen The 11th pair of chromosomes contains a gene responsible for normal hemoglobin A mutation or error in this gene is what causes sickle cell disease.

SICKLE CELL ANEMIA

CYSTIC FIBROSIS AUTOSOMAL RECESSIVE Mucus accumulation in lungs

TAY-SACHS DISEASE AUTOSOMAL RECESSIVE Improper fat metabolism leads to severe brain deterioration Young death – 4 years

ALBINISM AUTOSOMAL RECESSIVE little or no pigment in their eyes, skin, or hair. People have inherited altered genes that do not make the usual amounts of a pigment called melanin.

HUNTINGTON’S DISEASE AUTOSOMAL DOMINANT mutation responsible is on Chromosome 4, and consists of a CAG repeat (more than 36 times) Brain tissue degeneration symptoms develop between the ages of 35 and 50 years progresses to severe dementia

RED-GREEN COULOUR BLINDNESS X-LINKED RECESSIVE Inability to distinguish between different colours

DUCHENNE MUSCULAR DYSSTROPHY X-LINKED RECESSIVE Progressive wasting of muscles

CRI-DU-CHAT SYNDROME PARTIAL DELETION OF CHROMOSOME #5 In 90 percent of children with cri du chat syndrome, the deletion is sporadic. If a parent has this rearrangement, the risk for their having a child with cri du chat is greater than 1 percent. Improperly constructed larynx produces” cry of the cat” sound to voice

HEMOPHILIA X-LINKED RECESSIVE Blood does not clot properly

HEMOPHILIA