human genetics projects (exam 3)

what type of disorder is hemochromatosis

an autosomal recessive disorder

what does hemochromatosis cause

causes the body to absorb an excessive amount of iron leading to problems affecting necessary organs

what are symptoms of hemochromatosis

joint pain, abdominal pain, fatigue, weaknesss, diabetes, loss of sex drive, heart failure, liver failure, bronze or gray skin color, and memory fog

what testing is available for hemochromatosis

blood test, liver function test, MRI, genetic testing, and liver biopsies

what treatments help with hemochromatosis

therapeutic blood removal, limited alcohol consumption, and dietary changes

what type of disrder is thalassemia

a genetic blood disorder

what are symptoms of thalaseemia

fatigue, anemila, pale skin, jaundice, growth delays, enlarged spleens, and bone deformities

what are two types of thalaseemia

alpha and beta

thalaseemia causes what abnormalities

hemoglobin production and impairment of oxygen delivery

what are treatments for thalassemia

blood transfusion, iron chelation, folic acid, and splenectomy

what is the cure for thalassemia

bone marrow transplant

what is vitamin B12

vitamin essential for human health and gene regulation and transcription

what is Bergers disease

disease where a buildup of immunoglobulin causes inflammation in the kidneys, restricting their ability to filter waste from blood

what type of disease is IgA Nephropathy (Bergers DIsease)

autosomal dominant disease

what is used to help with IgA nephropathy since there is no cure

pharmological therapies and exercising

what type of disease is Marfans Syndrone

autosomal dominant disease

what does Marfans Syndome affect

connective tissues, mainly in the skeletal, ocular, and cardiovascular systems

what are features of Marfans Syndrome

craniofacial characteristics, high-arched palate, and scoliosis

what chromosome is linked with Marfans Syndrome

15

what type of diease is huntingtons

autosomal dominant disease

how is huntingtons caused

dna error in the gene when a repeating series of CAG sequences repeats too many times

what type of diease is a cleft lip and palate

multifactorial disease

what disease comes from thriteen inherited genetic tissue disorders

Ehlers danlos syndrome

what does ethlers danlos syndron (EDS) affect

connective tissues within the body

what are symptoms of EDS

joint hypermobility, skin hyperextensibility, and tissue fragility

what type of diease is EDS

autosomal dominant disease or autosomal recessive

what are treatments for leukemia

chemotherapy, stem cell transplants, and a newer treatment called CAR-T cell therapy

what causes albinism

defective melanocytes are unable to effectively create melanin in ectoderm derived tissue

oculocutaenous albinism is what type of diease

an autosomal recessive disease

what is charcot-marie-tooth disease caused by

deterioration of the peripheral nerves and myelin sheath

what are symtpoms of carcot-marie-tooth diease and when do they occur

originate in adoelsence and early adulthood; symtoims are muscle atropy/weakness, loss of sensation, foot deformities, slower reflexes, and decreased mobilities

what is treatment for charcot-marie-tooth diease

phsyical/occupational therapy, braces, and medication to manage neuropathic pain