Heme-Onc/Bili Flashcards
1
Q
Where do stem cells originate?
A
Mesoderm
2
Q
Where does hematopoiesis initially occur?
A
Secondary yolk sac
3
Q
How far into gestation do blood cells appear?
A
16-19 days
4
Q
When does the secondary yolk sac decrease hematopoiesis?
When does it regress?
A
8 weeks
10 weeks
5
Q
When does fetal liver hematopoiesis begin?
A
5-6 weeks
6
Q
When is the fetal liver become the primary site of hematopoiesis?
A
6-22 weeks
7
Q
When does the fetal bone marrow contribute to hematopoiesis?
A
8-40 weeks
8
Q
When is the fetal bone marrow become the primary site of hematopoiesis?
A
22-40 weeks
9
Q
By ___ weeks gestation, ____poiesis exceeds _____poiesis
A
12 weeks
granulopoiesis»_space; erythropoiesis
10
Q
At what gestational ages is hematopoiesis in the yolk sac?
A
2.5-10 weeks
11
Q
At what gestational ages is hematopoiesis in the fetal liver?
A
4-22 weeks
12
Q
At what gestational ages is hematopoiesis in the bone marrow?
A
8-21 weeks
13
Q
RBC’s ______ with increasing gestational age
A
increase
14
Q
Hematocrit _____ with increasing gestational age
A
increases
15
Q
MCV ________ with increasing gestational age
A
decreases
16
Q
Reticulocytes _______ with increasing gestational age
A
increases until 26-27w then declines
17
Q
nRBC _______ with increasing gestational age
A
decreases
18
Q
Hemoglobin alpha chain genes are on ______
A
chromosome 6
19
Q
Hemoglobin beta chain genes are on _________
A
chromosome 11
20
Q
In the newborn, a baby’s hemoglobin is ___% fetal hemoglobin.
A
80%
21
Q
In the 6 month old infant, fetal hemoglobin is ___% of total hemoglobin.
A
5%
22
Q
Alpha globin production is dependent on _____ genes
A
Four
23
Q
Beta globin production is dependent on _____ genes
A
Two
24
Q
Alpha globin genes are located on
A
Chromosome 16
25
Beta globin genes are located on
Chromosome 11
26
Alpha thalassemia trait is identified by
Two absent alpha globin genes
| Mild microcytosis
27
Hemoglobin H are marked by
3 absent alpha globin genes
Moderate hemolytic anemia
Heinz bodies
28
Hemoglobin Barts is identified by
4 absent alpha globin genes
| Hydrops fetalis
29
Beta thalassemia trait is
One abnormal beta globin gene
Mild anemia
Target cells
30
Beta thalassemia is marked by
>90% hgb F
Severe anemia
Splenomegaly
Chronic transfusions
31
Sickle cell is inherited
Autosomal recessive
32
The cause of sickle cell is
Abnormal beta globin chain gene
| Valine substituted for glutamic acid at position 6
33
Sickle cell presents
~6 months when fetal hgb diminishes and beta globin produced
Fever
Splenomegaly
Jaundice
Hemolytic anemia with reticulocytosis
34
Most common hemoglobinopathy worldwide is
Hemoglobin E
35
Glutamine substituted by lysine in the beta globin gene causes
Hemoglobin E
36
Diamond Blackfan anemia is a form of
Congenital hypoplastic anemia
37
An inherited anemia (AD or AR) that causes macrocytic anemia, absent erythroid precursors, increased epo, dysmorphic facies, short stature and msk, renal or cardiac anomalies is
Diamond Blackfan anemia
38
Anemia associated with abnormal thumb and radii development is
Fanconi anemia
39
Fanconi anemia is inherited
Autosomal recessive
40
Abnormal thumbs, radial hypoplasia, cognitive delays, and anemia associated with bone marrow hypoplasia is
Fanconi anemia
41
An anemia associated with increased risk of leukemia and lymphoma is
Fanconi anemia
42
Anemia that affects 6 month-4 year olds and self resolves is
Transient erythroblastopenia of childhood
43
Macrocytic anemia
```
Methylmalonic aciduria
Folate/B12 deficiency
Acquired aplastic anemia
Diamond Blackfan
Fanconi
Medications
Hypothyroid
```
44
Howell jolly bodies are present in
Splenic dysfunction/absence
45
Hereditary spherocytosis is usually inherited
Autosomal dominant
46
Hereditary spherocytosis is caused by
Defect in membrane proteins, spectrin, ankyrin, band 3, protein 4.2
47
Most frequently inherited enzyme defect is
G6PD
48
G6PD is caused by
Defective glucose 6 phosphate dehydrogenase enzyme
49
G6PD is inherited
X-linked recessive, male greater than female
50
Diagnosis of G6PD is by
Testing enzymatic activity, can be false positive during crisis
Other laboratory findings:
Heinz bodies
51
Pyruvate kinase deficiency is identified by
Second most common inherited RBC enzyme defect
Autosomal recessive
Defective pyruvate kinase enzyme inhibits production of ATP, increases 2,3 DPG
52
Partial volume exchange transfusion calculation
(Actual hematocrit - desired hematocrit)/
Actual hematocrit
X blood volume (wt x 90)
53
Oxidized or ferric state hemoglobin is due to
Methemoglobinia
54
An enzyme defect that can cause methemoglobinia is
NADH - MET hemoglobin reductase deficiency
Autosomal recessive
Occurs in native Americans, Navajo
55
In Neonatal alloimmune thrombocytopenia maternal platelet count is ______ and neonatal platelet count is ______
Normal
Severely decreased
56
The most common platelet antigen in Neonatal alloimmune thrombocytopenia is
HPA-1a
57
In neonatal autoimmune thrombocytopenia maternal platelet count is ______ and neonatal platelet count is ______
Decreased
| Decreased, but not as severely as in NAIT
58
Maternal platelet count _______ with regard to neonatal platelet count in neonatal autoimmune thrombocytopenia.
doesn't suggest severity
59
TAR is
Thrombocytopenia
Absent radii
Thrombocytopenia due to decreased production
60
Fanconi anemia, TAR, amegakaryocyte thrombocytopenia, Wiskott-Aldrich, and chediak-higashi are all associated with
Thrombocytopenia with decreased production
61
TAR is inherited ________ and presents with
```
Autosomal recessive
Severe thrombocytopenia
Bilateral absent radii
Ulnar abnormalities
Normal thumbs
CHD (TOF, ASD)
```
Mortality: ICH in first 4 months, otherwise gradual improvement
62
Amegakaryocyte thrombocytopenia
X-linked
Female>male 3:2
Severe isolated thrombocytopenia
50% --> aplastic anemia
Leukemia risk
High mortality
63
Bleeding time represents
Platelet number
Platelet function
Von willebrands
64
PT represents
Liver disease
Factor 7 deficiency
Vitamin K deficiency
Factor 5, 10, 2 defect
65
PTT represents
```
Factor 11, 12, PK, HMWK deficiency
Vitamin k deficiency
Von willebrands
Liver disease
Heparin
Lupus
DIC
Factor 5, 10,2 defect
```
66
Hemophilia A is due to ____ and inherited ____
Factor 8 deficiency--> prolonged PTT
X-lined recessive
67
Hemophilia B is due to ______ and is inherited _____
Factor 9 deficiency
X-linked recessive
68
Factor 11 deficiency is associated with ____ and is inherited _____
Noonan
Autosomal recessive
69
Factor 13 deficiency presents with _____ and is inherited _____
Bleeding after circumcision
Autosomal recessive
70
Bleeding in von willebrands is due ______ and it is inherited __________
Defective linking between platelet and vessel with factor 8
Autosomal dominant or recessive
Abnormal bleeding time, ristocetin factor
71
Hemorrhagic disease of the Newborn is early if _____, classic if _______ and late if _____
Early: <24h
Classic: 2-7 days
Late: 2 weeks- 6 months
Prolonged PT
72
Congenital leukemia is associated with
Fanconi anemia
Diamond-Blackfan
Trisomy 21
73
Tissue infiltration by monocytes or macrophage cell line is
Histiocytosis
74
Versions of histiocytosis are
Letterer-Siwe
Langerhan cell histiocytosis
Malignant familial histiocytosis--> fatal
Virus associated hemophagocytic syndrome
75
Most common neonatal tumor:
Teratoma
50% sacrococcygeal>head/neck
10% malignant potential
76
Second most common neonatal tumor
Neuroblastoma
70% adrenal
Prognosis best if <12 months
77
GU anomalies, aniridia, hemihypertrophy can be associated with ______ tumor
Wilm's
5% bilateral
Mets to lung, liver, bones, contralateral kidney
78
Abdominal mass + thrombocytopenia is concerning for
Hepatoblastoma
Increased AFP
79
Most frequent eye tumor
Retinoblastoma
40% autosomal dominant
60% sporadic
70% unilateral
80
Retinoblastoma can be associated with
Osteosarcoma
| Pinealoblastoma
81
A tumor of the striated muscle cell is
Rhabdomyosarcoma
Abdominal/pelvic
Botryoidal sarcoma bladder/vagina variant
82
Biliverdin is converted to bilirubin by
Biliverdin reductase
83
Heme is converted to biliverdin by
Heme oxygenase
84
Bilirubin that is bound/unbound with albumin crosses the BBB
Unbound
85
Bilirubin is conjugated by
Glucuronosyl transferase
86
________ reduce conjugated bilirubin to urobilinogen for excretion
Bacteria
87
Glucuronyl transferase is decreased in
Gilbert's
| Criggler-Najjar
88
Bilirubin staining of basal ganglia, cranial nerve nuclei and hippocampus
Necrosis
Neuronal loss
Gliosis
89
Phototherapy works by
Conversion to less lipophilic version for excretion
Isomerization
Lumirubin
90
IVIG for hyperbilirubinemia works by
Binding Fc receptor to prevent RBC destruction
