Transcript Human Genetic Disorders

Human Genetic Disorders
Sickle Cell Anemia
• Hemoglobin protein made incorrectly; causes
sickled RBC; not enough Oxygen carried in
blood; pain episodes and joint swelling
• Genetic; autosomal codominant; heterozygote
has “trait” and is protected from malaria
• Specific populations affected: Those of
African descent and Hispanics of Carribean
descent. 1 in 12 African-Americans has trait; 1
in 500 births has disease
• Treat symptoms
http://www.nhlbi.nih.gov/health/healthtopics/images/sickle_cell_01.jpg
http://www.medindia.net/patients/patientinfo/s
ickle-cell-anemia-symptoms-and-signs.htm
Hemophilia
• Blood clotting factor
protein is not made, so
individual will not stop
bleeding.
• Genetic; Sex-linked
recessive
• Males
• Give blood clotting
factor through IV.
http://www.ncbi.nlm.ni
h.gov/pubmedhealth/P
MH0001564/
Red-Green Colorblindness
• Cannot distinguish
between red and green
• Genetic, sex-linked,
recessive
• Males get more often
• No treatment
http://www.ncbi.nlm.nih.gov/
pubmedhealth/PMH000386
6/
Huntington’s Disease
• Brain cells waste away
(degenerate) causing
behavior and movement
changes and dementia in
30’s and 40’s (could start
younger).
• Genetic, autosomal,
dominant
• No specific populations
• None, can only slow down
symptoms
Cystic Fibrosis
• Unable to move salt across membranes which
allow a thick, sticky mucus to build up in
digestive and respiratory tracts; causes
infections in lungs, prevents digestion, and
imbalance of salt through sweating
• Genetic, autosomal recessive
• No specific populations
• Treatment: Chest physical therapy, inhalers, and
gene therapy
http://learn.genetics.utah.
edu/content/disorders/wh
ataregd/cf/
http://pathologyproject.fil
es.wordpress.com/2011/
02/cystic-fibrosis-c-sairway.jpg
Tay-Sach’s Disease
• A fatty acid cannot be broken down, so it
builds up in nervous tissue. Symptoms
show at 3-6 months; death occurs
between 4-5 years.
• Genetic, autosomal, recessive
• Ashkenazi Jews inherit this more often(1
in 27 carry the gene)
• No treatment
Down Syndrome
• Smaller head, decreased muscle tone,
flattened nose, delayed social and mental
development, (symptoms will vary)
• Chromosomal,
trisomy-21
• No specific
populations
• No treatment
Downsyndrome.com
Phenylketonuria
• Cannot break down the amino acid
phenylalanine leads to lighter hair and skin,
severe social and mental developmental delays,
and mousy odor.
• Genetic, autosomal recessive
• No specific populations
• A diet avoiding phenylalanine from birth will
prevent symptoms from developing. Foods to
avoid include milk, eggs, Nutrasweet, and
aspartame