BRS Hematology Flashcards
0
Q
when does fetal hemoglobin go away
A
by 6-9 months of age
1
Q
describe hgb levels at birth and afterwards
A
high at birth and normally declines, reaches low between 2-3 months in term infant and between 1-2 months in a premie
-hgb reaches adult level after puberty
2
Q
usually, retics make up ___% of RBCs
A
1%
3
Q
MC blood disease during infancy and childhood
A
iron deficiency anemia mostly 2/2 inadequate intake
4
Q
nutritional iron deficiency most common in these two age groups
A
- 9-24 months- inadequate intake, low iron stores
2. adolescent girls- poor diet, rapid growth, loss of iron in menstrual blood
5
Q
spoon-shaped nails, diminished attention and ability to learn, pale
A
anemia
6
Q
- early finding of iron deficiency anemia
- as serum iron decreases, you see these lab findings
A
- low serum ferritin- b/c iron stores disappear first
- iron binding capacity increases –> increased transferrin and decreased transferrin saturation
- may note increased free erythrocyte protoporphyrin
7
Q
how to tx iron deficiency anemia
A
elemental iron; give with vitamin C to enhance absorption
dietary counseling
if anemia doesn’t improve, then you have to look for another cause
8
Q
normally, most hemoglobin is hemoglobin ______, which is a tetramer containing _____ and ______
A
A1
2 alpha chains and 2 beta chains
9
Q
what is wrong in alpha-thalassemia
what is wrong in beta-thalassemia
A
defective alpha-globin chain synthesis
defective beta-globin chain synthesis
10
Q
how does thalassemia result in abnormal bones?
A
hemolysis –> increased bone marrow activity –> marrow space enlarges –> large bones in the face, skull, etc
11
Q
alpha-thalassemia primarily occurs in this ethnic group
beta-thalassemia primarily occurs in this ethnic group
A
SE Asian
mediterranean
12
Q
4 types of alpha-thalassemia
A
- silent carrier- 1 alpha gene deleted, no anemia, no sxs
- alpha thalassemia minor- 2 alpha genes deleted, mild anemia
- hgb H disease- 3 alpha genes deleted, pts have severe anemia at birth with elevated Hgb Bart’s (binds oxygen very strongly and does not release it to the tissue), anemia is lifelong and severe
- fetal hydrops- 4 alpha genes deleted, only Hgb Bart’s is formed which leads to in utero anemia, CHF, and death
13
Q
2 types of beta-thalassemia
A
beta thalessemia major and minor
14
Q
hemolytic anemia in infancy, marked HSM, bone marrow hyperplasia –> frontal bossing, maxillary hyperplasia with prominent cheekbones, skull deformities
A
beta-thalassemia major (Cooley’s anemia or homozygous beta-thalassemia)
-total absence of beta chains or deficient beta chain production
15
Q
lab findings of beta-thalassemia major
A
- severe hypochromia and microcytosis, target cells and poikilocytes
- elevated unconjugated bili, serum iron, and LDH
- low or absent Hgb A and elevated Hgb F
16
Q
how to tx beta thalassemia major
A
lifelong transfusions, splenectomy, +/- BMT
17
Q
a potential complication of beta thalassemia major
how do you tx it
A
hemochromatosis
- increased iron absorption from intestine
- more iron in transfused RBCs
tx with deferoxamine (chelator)
18
Q
this causes mild asymptomatic anemia with Hgb levels 2-3 g/dL below age-appropriate norms
-hypochromia and microcytosis with target cells and anisocytosis
A
beta thalassemia minor
19
Q
how to tx beta thalassemia minor
A
no tx needed
*note, this is often mistaken for iron deficiency anemia… however, iron levels are actually normal or elevated
20
Q
ring sideroblasts in the bone marrow 2/2 accumulation of iron in the mitochondria of RBC precursors
what is it and what might it be caused by?
A
sideroblastic anemia
-inherited or caused by toxins
21
Q
iron deficiency anemia thalassemia sideroblastic anemia lead toxicity chronic disease
A
causes of microcytic, hypochromic anemia
22
Q
B12 deficiency
thiamine deficiency
folate deficiency
A
causes of macrocytic anemia
23
Q
macrocytic anemias have large RBCs and MCV > ______
A
95
24
causes of folic acid deficiency
- decreased folic acid intake (no fresh fruits and beggies, exclusive goat's milk)
- decreased intestinal absorption of folic acid- small intestine dzs, anticonvulsants, OCPs
25
how to dx and tx folic acid deficiency
dx with low serum folic acid
| tx with dietary folic acid and tx the underlying cause
26
describe normal vitamin B12 absorption
B12 combines with intrinsic factor and then is absorbed in terminal ileum
27
causes of B12 deficiency
- inadequate dietary intake (vegan diet)
- inability to secrete intrinsic factor (juvenile pernicious anemia)
- inability to absorb B12 (ex. Crohn's disease)
28
anemia, smooth red tongue, neuro issues (ataxia, hyporefliexia, positive Babinski)
B12 deficiency
29
how to dx and tx B12 deficiency anemia
dx with low serum B12 level
| tx with monthly IM B12 injections
30
splenomegaly by age 2-3 years, pallor, weakness, pigmentary gallstones, aplastic crises assoc with parvovirus B19 infection
what is it, what's the demographic, how is it inherited, what protein is affected
hereditary spherocytosis
Northern Europeans
AD disorder
spectrin abnormality or deficiency
31
how to dx hereditary spherocytosis
spherocytes on blood smear
| osmotic fragility studies
32
how to tx hereditary spherocytosis
transfusions
| splenectomy is curative but should be delayed until > 5 years 2/2 risk of infection with encapsulated bacteria
33
mostly asymptomatic, elliptical RBCs on blood smear
| what is it, how is it inherited, what protein is messed up, how do you tx it
hereditary elliptocytosis
AD
spectrin
tx: splenectomy for pts with chronci hemolysis; if no hemolysis, no tx is needed
34
AR disorder that results in decreased production of an enzyme, leading to ATP depletion and decreased RBC survival
what is it, what are the clinical features, what do you see on blood semar
pyruvate kinase deficiency- pallor, jaundice, splenomegaly
| blood smear shows polychromatic RBCs
35
how to dx and tx pyruvate kinase deficiency
dx with decreased PK activity in RBCs
| tx with transfusions and splenectomy for severe disease
36
acute hemolytic disease induced by infection or medications or chronic hemolytic disease
glucose-6-phosphate dehydrogenase deficiency (G6PD)
37
triggers for G6PD deficiency
infections
fava beans
drugs- sulfa, salicylates, antimalarials
38
hemolysis with abdominal pain, V/D, fever, and hemoglobinuria followed by jaundice, +/- HSM 24-48 hours after exposure to oxidant
G6PD deficiency
39
bite cells, hemighosts, Heinz bodies
hemoglobinuria
increased retic count
G6PD deficiency
40
how to dx and tx G6PD deficiency
dx- low G6PD in RBCs
| tx- transfusions as needed; splenectomy not helpful
41
2 types of autoimmune hemolytic anemia
fulminant acute type
- infants and young children
- preceded by respiratory infection
- acute onset of apllor, jaundice, hemoglobinuria, splenomegaly
- complete recovery is expected
prolonged type
-protracted course, high mortality, underlying disease is often present
42
lab findings of autoimmune hemolytic anemia
anemia, spherocytes, reticulocytosis, direct Coombs test
43
how to tx autoimmune hemolytic anemia
transfusions for transient relief
| steroids- esp good for acute form of AIHA
44
mother's second baby has severe jaundice, anemia, HSN, hydrops fetalis, strongly positive Coombs
Rh hemolytic disease
| -mom is Rh negative and produces Rh antibodies from the first pregnancy
45
in ABO hemolytic disease, a direct Coombs test is _______
| it can occur during the first pregnancy
weakly positive
46
tx for Rh and ABO hemolytic disease
phototherapy if mild-moderate jaundice
exchange transfusion for severe jaundice
**prevent kernicterus
47
severe HTN, HUS, artificial heart valves, giant hemangioma, DIC can all cause ______
lab findings of this condition
how to tx
MAHA
anemia (burr cells, target cells, irregularly shaped RBCs), thrombocytopenia
supportive care; tx the underlying cause
48
sickle cell disease is caused by a single AA substitution of _____ for _______ on the number 6 position of the ______ chain of Hgb
valine for glutamic acid
| beta-globin chain
49
pathophys of sickle cell disease
Hgb stacks when exposed to low O2 or acidosis --> distorted RBC shape --> hemolysis and occlusion of small vessels
50
persons with SS trait have these types of Hgb
| clinical features of SS trait
```
Hgb A (50-60%)
Hgb S (35-45%)
Hgb F (small amount)
-pts usually asymptomatic unless exposed to severe hypoxemia
```
51
how to dx sickle cell disease
electrophoresis shows Hgb S and Hgb F in the newborn
52
SS disease does not present until _____ of age 2/2 protective effects of Hgb F
6 months
53
most common crisis in SS disease
| how to manage it
vaso-occlusive crisis/painful bone crisis
| -pain control, IVF, +/- partial exchange transfusion
54
what is acute abdominal crisis in SS disease
| how to tx it
abdominal pain and distention 2/2 sickling within mesenteric artery
tx with pain control, IVF, +/- partial exchange transfusion
55
dysarthrai, hemiplegia in SS disease patient
| what is it and how to tx
stroke
| tx with urgent exchange transfusion and start chronic transfusion program to prevent recurrence
56
always consider _____ in any pt presenting with priapism
SS disease
57
acute chest syndrome in SS disease
| define it and tx it
new pulmonary infiltrate associated with respiratory sxs
| -hydration, pain management, abx, O2, incentive spirometry, partial exchange transfusion
58
sequestration crisis in SS disease
| what is it and how to tx
rapid accumulation of blood in spleen or less commonly the liver
tx with transfusion of RBCs +/- splenectomy
59
aplastic crisis in SS disease
| what is it and how to tx
temporary cessation of RBC production often caused by parvovirus B19 or other infectious agent
-tx with transfusion of RBCs
60
hyperhemolytic crisis in SS disease
| what is it and how to tx
- rapid hemolysis --> fatigue, pallor, tachycardia, jaundice
- tx with transfusion of RBCs
61
which SS disease crises can you do an RBC transfusion and not exchange transfusion
sequestration crisis
aplastic crisis
hyperhemolytic crisis
62
_____ is the leading cause of death from SS disease
| what are the 4 main causes of this
infection 2/2 decreased splenic function
| -HIB, strep pneumo, salmonella, Neisseria meningitidis
63
osteomyelitis in SS disease may mimic painful bone crisis and is usually caused by this organism
salmonella from GI tract
| less likely is staph aureus
64
preventative care for SS disease (3 drugs and 2 other interventions)
- hydroxyurea- increases Hgb F --> decrease incidence of vasoocclusive crises
- daily PCN ppx against strep pneumo infection
- folic acid supplementation
- routine vaccines + prevnar/pneumovax and menactra
- serial transcranial doppler US or MRA to look for pts at risk for stroke
66
sickle cell-hemoglobin C disease is less severe/more severe than SS disease
less severe
67
symptomatic anemia within first year of life
rapid onset
often with physical findings: craniofacial, renal, cardiac anomalies; short stature; triphalangeal thumbs
decreased Hgb and retics
what is it and how to tx?
congenital hypoplastic anemia (Diamond-Blackfan anemia)
| -tx with RBC transfusion, steroids, and BMT if no response to steroids
68
slow onset of symptomatic anemia > 1 year of age
decreased Hgb and retics
what is it and how to tx?
transient erythroblastopenia of childhood (TEC)
| -no treatment needed... spontaneous recovery
69
asymptomatic anemia after URI ad slapped cheek
can present as aplastic crisis in kids with SS disease
decreased Hgb and retics
what is it and how to tx?
parvovirus B19 associated pure RBC aplasia
- tx with RBC transfusion for SS disease pts in aplastic crisis
- otherwise, no tx needed
70
-pancytopenia
-ecchymosis and petechiae around age 7
-short stature, absence of hypoplasia of the thumb and radius
-skin hyper pigmentation
-renal abnormalities
what is it
Congenital aplastic anemia (Fanconi anemia)
| AR inheritance
71
how to tx fanconi anemia
RBC and platelet transfusions PRN
BMT from HLA-compatible person if possible
immunosuppressives like steroids may help
72
causes of acquired aplastic anemia
```
drugs- sulfonamides, anticonvulsants, chloramphenicol
infections- HIV, EBV, CMV
chemicals
radiation
idiopathic
```
73
how to tx acquired aplastic anemia
stop the causative agent
transfusions PRN
BMT
immunosuppressive therapy
74
define polycythemia
increase in RBCs relative to total blood volume
| Hct > 60%
75
what is polycythemia vera
malignancy involving the RBC that causes polycythemia
76
causes of secondary polycythemia
| appropriate and inappropriate
- appropriate: chronic hypoxemia (cyanotic congenital heart disease, pulmonary disease, residence at high altitudes)
- inappropriate: benign of malignant tumors, excess hormone production, kidney abnormalities
77
ruddy facial complexion with normal size liver and spleen
sign of polycythemia
78
EPO level in secondary polycythemia
high
79
when do you most commonly see relative polycythemia
dehydration
80
complications of polycythemia (2)
thrombosis- vasoocclusive crisis, stroke, MI
| bleeding
81
```
factor VIII and IX deficiency
PTT
PT
bleeding time
plt count
petechiae
hemarthroses
```
```
prolonged
normal
normal
normal
no
yes
```
82
```
von Willebrand's
PTT
PT
bleeding time
plt count
petechiae
hemarthroses
```
```
prolonged
normal
prolonged
normal
no
rare
```
83
```
thrombocytopenia
PTT
PT
bleeding time
plt count
petechiae
hemarthroses
```
```
normal
normal
prolonged
low
yes
no
```
84
```
platelet function defect
PTT
PT
bleeding time
plt count
petechiae
hemarthroses
```
```
normal
normal
prolonged
normal
yes
no
```
85
```
vitamin K deficiency
PTT
PT
bleeding time
plt count
petechiae
hemarthroses
```
```
prolonged
prolonged
normal
normal
yes
yes
```
86
```
DIC and liver disease
PTT
PT
bleeding time
plt count
petechiae
hemarthroses
```
```
prolonged
prolonged
prolonged
low
yes
sometimes
```
87
_______ = defect in factor VIII procoagulant activity. Plt function is normal
Hemophilia A
88
________ = factor VIII procoagulant activity is variable but pot function is defective b/c of a decrease of defect in von Willebrand's factor (needed for pot adhesion to blood vessel walls)
von Willebrand's disease
89
inheritance of hemophilia
X linked
90
hemarthroses and deep soft tissue bleeding are hallmarks of _____
risk of serious and life threatening hemorrhage is lifelong
hemophilia A and B
91
3 categories of hemophilia severity
severe- spontaneous bleeding, < 1% activity
moderate- bleeding only w/ trauma (1-5%)
mild- bleeding only after surgery or major trauma (> 5%)
92
how to manage hemophilia A
factor VIII
| DDAVP can be useful in mild hemophilia
93
inheritance of von Willebrand's disease
AD
94
3 types of von Willebrand's disease
```
type I (classic)- mild quantitative deficiencies of vWF and factor VIII protein... this is the most common form
type II- qualitative abnormality in vWF
type III- absence of vWF; most severe form
```
95
common sxs of von Willebrand's disease
epistaxis, menorrhagia, bruising, bleeding, mucocutaneous bleeding
96
how to dx von Willebrand's disease
quantitative assay for vWF antigen and activity (ristocetin cofactor assay)
97
how to tx von Willebrand's disease
DDAVP for mild to moderate bleeding and for ppx
| cryoprecipitate for serious bleeding or type III disease
98
vitamin K dependent factors
II, VII, IX, X, protein C and S
99
causes of vitamin K deficiency
inadequate intake is unusual
- mediations- cephalosporins, riframpin, isoniazid, warfarin
- decreased absorption- pancreatic insufficiency, prolonged diarrhea, biliary obstruction
- hemorrhagic dz of the newborn- within 24 hrs - 3 months
100
serious bleeding in new born
-cutaneous bleeding, hematemesis, bleeding from circumcision site or umbilical cord
how do you prevent this?
hemorrhagic dz of newborn
| give IM vitamin K after birth
101
how to tx vitamin K deficiency bleeding
vitamin K
| if severe disease, give FFP as needed
102
prolonged PT and PTT, increased fibrin degradation products, thrombocytopenia
this could be 2 things
how do you tx it?
DIC- fibrinogen, FFP, plts as needed
| severe liver dz- vitamin K, FFP, plts as needed
103
what shape RBCs do you see on smear of DIC
fragmented and helmet shaped RBCs
104
palpable purpura on LE and buttocks, renal insufficiency, arthritis, abdominal pain
-normal plt count
Henoch-Schonlein purpua (IgA mediated vasculitis)
105
locally dilated and tortuous veins and capillaries of the skin and mucous membranes
-AD disorder
hereditary hemorrhagic telangiectasia
106
impaired collagen synthesis --> weakened blood vessels
| due to a vitamin deficiency
vitamin C
| scurvy
107
steroids can cause blood vessel weakness and bleeding (T/F)
T
108
X linked disorder: thrombocytopenia with unusually small plts, eczema, defects in T and B cell immunity
Wiskott-Aldrich syndrome
109
AR disorder: thrombocytopenia, limb abnormalities like absence of radius (however, compared to falcon anemia, the thumb is present here)
thrombocytopenia-absent radius syndrome (TAR)
110
cutaneous bleeding or mucous membrane bleeding 1-4 weeks after a viral infection
-thrombocytopenia, few large "sticky" plts
immune thrombocytopenia purpura (ITP)
111
how to tx ITP
supportive care
- plts < 20,000 or active bleeding warrant IVIG or steroids
- generally do not transfuse plts b/c it will be rapidly destroyed anyways
- can try anti-D immunoglobulin as second line
112
prognosis and tx of ITP
70-80% resolve spontaneously within months
| -if it continues, splenectomy is often curative but due to infection risk, we hesitate to do that in young kids
113
mother has ITP --> antibodies against her own plts cross the placenta --> antibodies destroy fetus's plts
-mom has thrombocytopenia
passive autoimmune thrombocytopenia
114
mother makes antibodies against fetus's plts --> antibodies cross placenta and destroy fetus's plts
-mom has normal pot count
isoimmune thrombocytopenia
115
enlarging hemangioma, MAHA, thrombocytopenia, consumptive coagulopathy
Kasabach-Merritt syndrome
116
AR disorder: diminished ability of plts to aggregate 2/2 deficient adhesive glycoprotein IIb/IIIa on the plt cell membrane
Glanzmann's thrombasthenia
117
AR disorder: decreased plt adhesion as a result of absence of plt membrane glycoproteins
bernard-soulier syndrome
118
causes of acquired qualitative plt disorders
drugs- aspirin, depakote
| uremia and severe liver disease
119
purpura fulminans- nonthrombocytopenic purpura (fever, shock, rapidly spreading skin bleeding and intravascualr thrombosis )
presentation of homozygous protein C deficiency
120
how do protein C heterozygotes present
later with DVT or CNS thrombosis
121
how to tx protein C deficiency
heparin, FFP, warfarin, protein C
122
define neutropenia levels (3)
mild- ANC 1000-1500
moderate- ANC 500-1000, infection of mucous membranes and skin
severe- ANC <500, severe infections esp with staph aureus and gram negative bacteria
123
_______ are the most common cause of neutropenia during childhood
infections
- HIV, EBV, EMV, Hep A and B, influenza, parvovirus
- typhus, RMSF
- protozoans
124
increased incidence of mild infections
noncyclic neutropenia
otherwise healthy with normal appearance and growth
chronic benign neutropenia of childhood (CBN)
125
what does the bone marrow look like in chronic benign neutropenia of childhood
immature neutrophil precursors
126
prognosis of chronic benign neutropenia of childhood
resolves spontaneously in months to years
127
AR disorder where ANC is usually < 300
severe congenital agranulocytosis (Kostmann syndrome)
128
how to dx cyclic neutropenia
| how long are the cycles
dx with serial neutrophils counts during a 2-3 months period
| cycles are usually 21 days
129
AR disorder: oculocutaneous albinism, large blue-gray granules in cytoplasm of neutrophils, *neutropenia, blond or brown hair with silver streaks
chediak-higashi syndrome
130
AR disorder: short stature, immunodeficiency, fine hair, *neutropenia
cartilage-hair hypoplasia syndrome
131
exocrine pancreatic insufficiency with malabsorption, short stature 2/2 metaphyseal chondrodysplasia, *neutropenia
schwachman-diamond syndrome
132
isoimmune neutropenia
mother makes antibodies to baby's neutrophils --> causes neutropenia in baby that resolves by 8 weeks of life
133
autoimmune neutropenia can happen 2/2 infection, drugs, SLE, JRA, etc (T/F)
T
134
in iron deficiency anemia, the free erythrocyte protoporphyrin is elevated/decreased
elevated
135
pts with SS trait may have these sxs
inability to concentrate urine, hematuria
136
beta thalassemia puts you at increased risk for hemochromatosis (T/F)
T
137
goat's milk only leads to ____ deficiency
folic acid
138
spoon shaped nails seen in ____ deficiency
iron
139
smooth red tongue seen in _____ deficiency
B12
