Diseases

Question 1

myelo-

Answer 1

related to bone marrow

Question 2

hydroxyurea

Answer 2

• treats cancer by slowing or stopping the growth of cancer cells
• reats sickle cell anemia by helping to prevent formation of sickle-shaped RBCs

Question 3

sickle cell disease

Answer 3

• RBCs contort into a sickle shape. The cells die early, leaving a shortage of healthy red blood cells (sickle cell anemia), and can block blood flow causing pain (sickle cell crisis)
• Treatments include medications, blood transfusions, and rarely a bone-marrow transplant

Question 4

Beta thalassemia

Answer 4

• blood disorder that reduces the production of hemoglobin resulting in a lack of oxygen in many parts of the body
• symptoms of thalassemia major appear within the first 2 years of life

Question 5

hemoglobin

Answer 5

iron-containing protein in red blood cells that carries oxygen to cells throughout the body

Question 6

autologous transplant

Answer 6

• uses healthy blood stem cells from your own body to replace your diseased or damaged bone marrow
• most often used to treat NHL, HL, myeloma

Question 7

oncogenesis

Answer 7

multi-step process by which normal cells turn into cancerous cells, leading to cancer growth in the body

Question 8

allogeneic transplant

Answer 8

transferring the stem cells from a healthy person (the donor) to the patient’s body after high-intensity chemotherapy or radiation

Question 9

GVHD (graft versus host disease)

Answer 9

when donor bone marrow or stem cells attack the recipient

Question 10

ALS (amyotrophic lateral sclerosis)

Answer 10

• progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. muscle isn’t getting nourished so atrophies (wastes away) and lateral part of spinal cord degenerates and hardens (sclerosis)
• sporadic ALS: most common (90-95% of cases and random)
• familial: inherited (only 5-10% of cases)

Question 11

Cystic fibrosis

Answer 11

a genetic disease, estimated to affect around
70,000 people worldwide, that causes persistent lung infections, often making it difficult for people to breathe. With no treatment for the underlying genetic defect which causes cystic fibrosis, the disease is associated with reduced life expectancy and quality of life and a high therapeutic burden. Gene therapy is the only therapeutic approach to date that can address all gene mutations associated with cystic fibrosis, thus potentially offering a universal treatment

Question 12

Hemophilia

Answer 12

medical condition in which the ability of the blood to clot is severely reduced, causing the sufferer to bleed severely from even a slight injury. The condition is typically caused by a hereditary lack of a coagulation factor, most often factor VII

Question 13

monogenic diseases

Answer 13

controlled by a single gene; 7,000 monogenetic diseases known today affect as many as 20-25mm Americans yet < 10% of these have available therapies today

Question 14

PAH (pulmonary arterial hypertension)

Answer 14

• rare, progressive disorder characterized by high blood pressure (hypertension) in the arteries of the lungs (pulmonary artery) for no apparent reason
• exact cause is unknown and although treatable, there is no known cure for the disease
• usually affects women between the ages of 30-60
• without treatment, high blood pressure in the lungs causes the right heart to work much harder, and over time, this heart muscle may weaken or fail
• people with heritable PAH have either: (1) an autosomal dominant genetic condition associated with mutations in the BMPR2 gene (2) are members of a family in which PAH is known to occur as primary disease

Question 15

hemolysis

Answer 15

rupture or destruction of red blood cells

Question 16

hematopoiesis

Answer 16

production of all types of blood cells including formation, development, and differentiation of blood cells

Question 17

dysplasia

Answer 17

abnormal development of cells within tissues or organs; can lead to a wide range of conditions that involve enlarged tissue or pre-cancerous cells

Question 18

Trisomy 8

Answer 18

most common chromosome gain in MDS and is present in 5-7% of MDS case; however, is not sufficient for a diagnosis of MDS in the absence of blast or dysplasticcells

Question 19

blasts

Answer 19

• precursors to the mature, circulating blood cells such as neutrophils, monocytes, lymphocytes and erythrocytes. Blasts are usually found in low numbers in the bone marrow. They are not usually found in significant numbers in the blood
• Circulating blasts can be seen with severe infections, medications (e.g. granulocyte colony stimulating factor), bone marrow replacing processes and hematopoietic neoplasms (e.g AL, MDS)

Question 20

MDS (myelodysplastic syndromes)

Answer 20

group of disorders that affect the production of new blood cells in the bone marrow, whereby the bone marrow produces abnormal blast cells that fail to mature properly and are thus unable to function