Genetics - ANSWER - The study of genes and their role in inheritance
Genomics - ANSWER - The study of all a person's genes
Epigenetics - ANSWER - The study of chemical modification of specific genes
Germline - ANSWER - Inherited from parent
Somatic - ANSWER - Acquired
Anemia - ANSWER - Deficiency in erythrocytes (RBCs)
Anemia is diagnosed by - ANSWER - CBC
Blood smear
Anemia clinical manifestations based on severity - ANSWER - Mild (Hgb 10-12) - no symptoms at rest,
mild fatigue with exertion
Moderate (Hgb 6-10) - cardiopulmonary symptoms that occur at rest
Severe (Hgb <6) - Multiple systems involved
Anemia general clinical manifestations (20) - ANSWER - Fatigue
Pallor
Jaundice
Pruritus
Palpitations
Tachycardia
Dyspnea
HF
Tachypnea
Angina/MI
Anorexia
Spleno/hepatomegaly
Headache
Vertigo
Depression
Irritability
Sensitivity to cold
,Weight loss
Orthopnea
Bone pain
Iron deficiency anemia - ANSWER - Most common type of anemia
Occurs from inadequate intake of iron, increased hemolysis, malabsorption (pts with their duodenum
removed), blood loss, and CKD
Can cause pallor, glossitis, cheiltis, headache, paresthesia, burning sensation of tongue
Diagnosed by Hgb, Hct, HGB, CBC, serum iron, TIBC elevated, ferritin low, stool for occult blood,
endoscopy, colonoscopy, bone marrow biopsy
Tx by increasing dietary source of iron (red meat, green leafy vegetables, whole grains, ferrous sulfate
with vitamin C
Anemia of chronic disease - ANSWER - Under production of anemia and/or decreased survival time
Can come from chronic diseases such as chronic inflammation, autoimmune disorders, HF, infectious
diseases, malignancies
Tx by correcting the underlying disorder, blood transfusion, and erythropoietin
Aplastic anemia - ANSWER - Can be chronic or acute (life-threatening); rare
Occurs from peripheral blood pancytopenia (decrease in all cells) and hypo cellular bone marrow
S/S include anemia (fatigue, dyspnea), neutropenia (infection, shock, death), thrombocytopenia
(bleeding, petechiae)
Dx by labs and biopsy
Tx by supportive care, HSCT, and immunosuppressive therapy in those >55
Anemia caused by acute blood loss - ANSWER - Occurs from hemorrhage
10% 500ml loss - no symptoms
20% 1000ml loss - no symptoms at rest, tachycardia with exercise, mild postural hypotension
30% 1500 ml loss - normal BP and pulse at rest, tachycardia and postural hypotension with exercise
40% 2000 ml loss - BP, CVP, and CO below normal, air hunger, rapid, thready pulse, cool, clammy skin
50% 2500ml loss - shock, lactic acidosis, possible death
, Tx by replacing fluid volume (lactated ringers, albumin), identify and correct source of blood loss, blood
transfusion, replace platelets, and supplement iron if needed
Thrombocytopenia - ANSWER - Low platelet count
Platelet count below 150,000
Results in abnormal hemostasis (prolonged bleeding from injury or spontaneous bleeding)
3 types: ITP, TTP, and HIT
S/S include mucosal/cutaneous bleeding (epistaxis, petechiae, purpura, abnormal bleeding, after
venipuncture/IM injections, internal bleeding
Major complication is hemorrhage
Platelet count
150,000 pt okay
<50,000 prolonged bleeding
<20,000 spontaneous life-threatening hemorrhages
<10,000 platelet transfusion
Dx by checking PT and aPTT
Tx by treating underlying condition, specific to each type, avoid anti-platelet drugs
Teach pt to shave with an electric razor, no gardening, good oral care, avoid tattoos, piercings, eyebrow
tweezing
ITP - ANSWER - Immune Thrombocytopenia Purpura
Most common
Abnormal destruction of platelets by the spleen
Tx by splenectomy, IVIG, corticosteroids, platelet transfusion
TTP - ANSWER - Thrombotic Thrombocytopenia Purpura
Rare
Results in the enhanced aggregation of platelets
Associated with hemolytic uremic syndrome