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Neo Boards > Heme-Onc/Bili > Flashcards

Heme-Onc/Bili Flashcards

1
Q

Where do stem cells originate?

A

Mesoderm

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2
Q

Where does hematopoiesis initially occur?

A

Secondary yolk sac

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3
Q

How far into gestation do blood cells appear?

A

16-19 days

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4
Q

When does the secondary yolk sac decrease hematopoiesis?

When does it regress?

A

8 weeks

10 weeks

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5
Q

When does fetal liver hematopoiesis begin?

A

5-6 weeks

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6
Q

When is the fetal liver become the primary site of hematopoiesis?

A

6-22 weeks

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7
Q

When does the fetal bone marrow contribute to hematopoiesis?

A

8-40 weeks

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8
Q

When is the fetal bone marrow become the primary site of hematopoiesis?

A

22-40 weeks

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9
Q

By ___ weeks gestation, ____poiesis exceeds _____poiesis

A

12 weeks

granulopoiesis&raquo_space; erythropoiesis

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10
Q

At what gestational ages is hematopoiesis in the yolk sac?

A

2.5-10 weeks

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11
Q

At what gestational ages is hematopoiesis in the fetal liver?

A

4-22 weeks

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12
Q

At what gestational ages is hematopoiesis in the bone marrow?

A

8-21 weeks

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13
Q

RBC’s ______ with increasing gestational age

A

increase

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14
Q

Hematocrit _____ with increasing gestational age

A

increases

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15
Q

MCV ________ with increasing gestational age

A

decreases

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16
Q

Reticulocytes _______ with increasing gestational age

A

increases until 26-27w then declines

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17
Q

nRBC _______ with increasing gestational age

A

decreases

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18
Q

Hemoglobin alpha chain genes are on ______

A

chromosome 6

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19
Q

Hemoglobin beta chain genes are on _________

A

chromosome 11

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20
Q

In the newborn, a baby’s hemoglobin is ___% fetal hemoglobin.

A

80%

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21
Q

In the 6 month old infant, fetal hemoglobin is ___% of total hemoglobin.

A

5%

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22
Q

Alpha globin production is dependent on _____ genes

A

Four

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23
Q

Beta globin production is dependent on _____ genes

A

Two

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24
Q

Alpha globin genes are located on

A

Chromosome 16

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25
Q

Beta globin genes are located on

A

Chromosome 11

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26
Q

Alpha thalassemia trait is identified by

A

Two absent alpha globin genes

Mild microcytosis

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27
Q

Hemoglobin H are marked by

A

3 absent alpha globin genes
Moderate hemolytic anemia
Heinz bodies

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28
Q

Hemoglobin Barts is identified by

A

4 absent alpha globin genes

Hydrops fetalis

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29
Q

Beta thalassemia trait is

A

One abnormal beta globin gene
Mild anemia
Target cells

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30
Q

Beta thalassemia is marked by

A

> 90% hgb F
Severe anemia
Splenomegaly
Chronic transfusions

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31
Q

Sickle cell is inherited

A

Autosomal recessive

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32
Q

The cause of sickle cell is

A

Abnormal beta globin chain gene

Valine substituted for glutamic acid at position 6

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33
Q

Sickle cell presents

A

~6 months when fetal hgb diminishes and beta globin produced

Fever
Splenomegaly
Jaundice
Hemolytic anemia with reticulocytosis

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34
Q

Most common hemoglobinopathy worldwide is

A

Hemoglobin E

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35
Q

Glutamine substituted by lysine in the beta globin gene causes

A

Hemoglobin E

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36
Q

Diamond Blackfan anemia is a form of

A

Congenital hypoplastic anemia

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37
Q

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

A

Diamond Blackfan anemia

38
Q

Anemia associated with abnormal thumb and radii development is

A

Fanconi anemia

39
Q

Fanconi anemia is inherited

A

Autosomal recessive

40
Q

Abnormal thumbs, radial hypoplasia, cognitive delays, and anemia associated with bone marrow hypoplasia is

A

Fanconi anemia

41
Q

An anemia associated with increased risk of leukemia and lymphoma is

A

Fanconi anemia

42
Q

Anemia that affects 6 month-4 year olds and self resolves is

A

Transient erythroblastopenia of childhood

43
Q

Macrocytic anemia

A 
Methylmalonic aciduria
Folate/B12 deficiency
Acquired aplastic anemia
Diamond Blackfan
Fanconi
Medications
Hypothyroid
44
Q

Howell jolly bodies are present in

A

Splenic dysfunction/absence

45
Q

Hereditary spherocytosis is usually inherited

A

Autosomal dominant

46
Q

Hereditary spherocytosis is caused by

A

Defect in membrane proteins, spectrin, ankyrin, band 3, protein 4.2

47
Q

Most frequently inherited enzyme defect is

48
Q

G6PD is caused by

A

Defective glucose 6 phosphate dehydrogenase enzyme

49
Q

G6PD is inherited

A

X-linked recessive, male greater than female

50
Q

Diagnosis of G6PD is by

A

Testing enzymatic activity, can be false positive during crisis
Other laboratory findings:
Heinz bodies

51
Q

Pyruvate kinase deficiency is identified by

A

Second most common inherited RBC enzyme defect
Autosomal recessive
Defective pyruvate kinase enzyme inhibits production of ATP, increases 2,3 DPG

52
Q

Partial volume exchange transfusion calculation

A

(Actual hematocrit - desired hematocrit)/
Actual hematocrit
X blood volume (wt x 90)

53
Q

Oxidized or ferric state hemoglobin is due to

A

Methemoglobinia

54
Q

An enzyme defect that can cause methemoglobinia is

A

NADH - MET hemoglobin reductase deficiency
Autosomal recessive
Occurs in native Americans, Navajo

55
Q

In Neonatal alloimmune thrombocytopenia maternal platelet count is ______ and neonatal platelet count is ______

A

Normal

Severely decreased

56
Q

The most common platelet antigen in Neonatal alloimmune thrombocytopenia is

57
Q

In neonatal autoimmune thrombocytopenia maternal platelet count is ______ and neonatal platelet count is ______

A

Decreased

Decreased, but not as severely as in NAIT

58
Q

Maternal platelet count _______ with regard to neonatal platelet count in neonatal autoimmune thrombocytopenia.

A

doesn’t suggest severity

59
Q

TAR is

A

Thrombocytopenia
Absent radii

Thrombocytopenia due to decreased production

60
Q

Fanconi anemia, TAR, amegakaryocyte thrombocytopenia, Wiskott-Aldrich, and chediak-higashi are all associated with

A

Thrombocytopenia with decreased production

61
Q

TAR is inherited ________ and presents with

A 
Autosomal recessive
Severe thrombocytopenia
Bilateral absent radii
Ulnar abnormalities
Normal thumbs
CHD (TOF, ASD)

Mortality: ICH in first 4 months, otherwise gradual improvement

62
Q

Amegakaryocyte thrombocytopenia

A

X-linked
Female>male 3:2

Severe isolated thrombocytopenia
50% –> aplastic anemia
Leukemia risk
High mortality

63
Q

Bleeding time represents

A

Platelet number
Platelet function
Von willebrands

64
Q

PT represents

A

Liver disease
Factor 7 deficiency
Vitamin K deficiency
Factor 5, 10, 2 defect

65
Q

PTT represents

A 
Factor 11, 12, PK, HMWK deficiency
Vitamin k deficiency
Von willebrands
Liver disease
Heparin
Lupus
DIC
Factor 5, 10,2 defect
66
Q

Hemophilia A is due to ____ and inherited ____

A

Factor 8 deficiency–> prolonged PTT

X-lined recessive

67
Q

Hemophilia B is due to ______ and is inherited _____

A

Factor 9 deficiency

X-linked recessive

68
Q

Factor 11 deficiency is associated with ____ and is inherited _____

A

Noonan

Autosomal recessive

69
Q

Factor 13 deficiency presents with _____ and is inherited _____

A

Bleeding after circumcision

Autosomal recessive

70
Q

Bleeding in von willebrands is due ______ and it is inherited __________

A

Defective linking between platelet and vessel with factor 8

Autosomal dominant or recessive

Abnormal bleeding time, ristocetin factor

71
Q

Hemorrhagic disease of the Newborn is early if _____, classic if _______ and late if _____

A

Early: <24h

Classic: 2-7 days

Late: 2 weeks- 6 months

Prolonged PT

72
Q

Congenital leukemia is associated with

A

Fanconi anemia
Diamond-Blackfan
Trisomy 21

73
Q

Tissue infiltration by monocytes or macrophage cell line is

A

Histiocytosis

74
Q

Versions of histiocytosis are

A

Letterer-Siwe
Langerhan cell histiocytosis
Malignant familial histiocytosis–> fatal
Virus associated hemophagocytic syndrome

75
Q

Most common neonatal tumor:

A

Teratoma

50% sacrococcygeal>head/neck
10% malignant potential

76
Q

Second most common neonatal tumor

A

Neuroblastoma

70% adrenal
Prognosis best if <12 months

77
Q

GU anomalies, aniridia, hemihypertrophy can be associated with ______ tumor

A

Wilm’s

5% bilateral
Mets to lung, liver, bones, contralateral kidney

78
Q

Abdominal mass + thrombocytopenia is concerning for

A

Hepatoblastoma

Increased AFP

79
Q

Most frequent eye tumor

A

Retinoblastoma

40% autosomal dominant
60% sporadic

70% unilateral

80
Q

Retinoblastoma can be associated with

A

Osteosarcoma

Pinealoblastoma

81
Q

A tumor of the striated muscle cell is

A

Rhabdomyosarcoma

Abdominal/pelvic
Botryoidal sarcoma bladder/vagina variant

82
Q

Biliverdin is converted to bilirubin by

A

Biliverdin reductase

83
Q

Heme is converted to biliverdin by

A

Heme oxygenase

84
Q

Bilirubin that is bound/unbound with albumin crosses the BBB

85
Q

Bilirubin is conjugated by

A

Glucuronosyl transferase

86
Q

________ reduce conjugated bilirubin to urobilinogen for excretion

87
Q

Glucuronyl transferase is decreased in

A

Gilbert’s

Criggler-Najjar

88
Q

Bilirubin staining of basal ganglia, cranial nerve nuclei and hippocampus

A

Necrosis
Neuronal loss
Gliosis

89
Q

Phototherapy works by

A

Conversion to less lipophilic version for excretion
Isomerization
Lumirubin

90
Q

IVIG for hyperbilirubinemia works by

A

Binding Fc receptor to prevent RBC destruction

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