Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Boards > Hemolytic anemia + LEUKOCYTES > Flashcards

Hemolytic anemia + LEUKOCYTES Flashcards

1
Q

inheritnce- hereditary spherocytosis

A

AD usually. 2/3 FH, 1/3 sporadic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what is the most common gongenital hemolytic anemia

A

HS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

3 protiens associated with autosomal dominant HS

A

Ankryn (ANK1), Band 3 (SLC4a10, Beta spectrim (SPTB)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

how do most non FH HS patients present

A

aplastic crissi

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

inheritance HE

A

autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

SE asian ovalocytosis- phenotype and protein

A

band 3, mild version of HE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

alpha LELY phenotype and protein

A

50% reduced alpha spectrim, HE modifier. most intense

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

hereditary pyropoikilocytosis- inheritance and protein

A

spectrim. baby has a HE and then a alpha LELY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Hydrocytosis- lab findings and utation

A

over hydrated. increased MCV LOW MCHC. Mutations in RHAG gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

xerocytosis- lab, mutation

A

dehydrated increased MCV, increased MCHC. Decreased osmotic fragility (opposite of HS). Gene-= PEIZO01 or KCCN4 (dominant)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

inheritance unstable hemoglboins

A

AD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

clinical findings in unstable hemoglobins

A

heinz body (suprvital), urine: pigmenturia with fluorescent, may have extravascular hemolysis or ineffective erythropoiesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

most frequent unstable hemoglobin in the US

A

Hb Koln: most frequent, high O2 affinity , pigmented urine, left shift

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

too unstable to find in blood but looks like beta that but AD

A

Hb Indianapolisis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

most common RBC enzymopathy

A

G6PD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

inheritance and how to diagnose PK def

A

AR, enzyme activity and sequencing (PKLR)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

why do patients with PK have ca lower hemoglobin but feel better

A

they have more 2,3 ZBPD and so feel better (easier oxygen offloading)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

what happens in PK def after spleen out

A

way insane reticulocytosis. helps a Litle with anemia. still can get iron overload

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

inheritance and presentation- Glucose phosphate isomerase deficiency

A

AR. Hemolysis AND Neuro impairment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

hemolysis + profound basophilic stippling inherited disorder

A

pyrimidine 5’ nucleotides deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

non heme finding in phosphofructokinase deficiency

A

myopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

non heme finding in aldolase deficiency

A

myopathy (elevated CK)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

non heme finding in trios phosphate isomerase def

A

progressive neuro deficits, increased susceptibility to infections, cardiomyopathy, death by 5-6 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

non heme findings- phosphoglycerate kinase and inheritance

A

neuro +/- myopathy X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

no heme finding- adenylate kinase

A

neuro

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

acquired reasons for methemoglobinemia

A

drugs- lidocaine. dyes (bluing), nitrates (well water and whippets)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

congenital causes of methemoglobinemia

A

Hb M variants (this is autosomal dominant, cyanotic infant with brown blood0. NAZDH METHb reductase def (AR)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

who can you not give methylene blue to

A

G6PD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

infant DAT test in Rh hemolytic disease

A

positive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

what is upshaw-schulman syndrome

A

congenital ADAMTs 13 deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

2 proteins missing in PNH and what I the mechanism of hemolysis, gene and what chromosome

A

lack of GPI linking poteins- CD55 and CD59 so cells are sensitive to complement mediated hemolysis via acquired PIG-A gene mutation on X chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

how to diagnose PNH

A

flow for CD55 and/or CD59 and leukocyte PI-olinked proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

treatment pnh

A

complement inhibitors like eco

34
Q

list 4 toxin associated hemolysis

A

clostridium, brown recluse spider bites, Wilson disease, and burns

35
Q

3 categories of neutrophils

A

leukocytes, phagaoytes, granulocytes

36
Q

4 types of neutrophil granules

A
  1. Primary/azurophilic 2. specific/secondary 3/ tertiary/gelatinase, 4. secretory
37
Q

steps of phagocyte recruitmetn

A

rolling, adherence, diapedesis, chemotaxis, ingestion, phagocytosisoxidative function

38
Q

what do neutrophils phagocytose

A

things opsonized with C3 and IgG

39
Q

mechanism: alloimmune neutropenia of newborns

A

passive transplacental transfer of maternal zIgzG against paternal antigens on infant neutrophils.

40
Q

autoimmune neutropenia of infancy mechanism

A

acquired anti-neutrophil antibody

41
Q

2 nutritional deficit that can cause neutropenia

A

B12 or folate def . nuclear hypersegs. also copper def

42
Q

mortality risk of drug induced neutropenia

43
Q

characterization of ELANE-related neutropenia

A

this severe congenital neutropenia I an arrest in myeloid maturation at promyelocyte stageg

44
Q

3 genes to know for congenital severe neutropenia

A

SCN, ELANE, HAX1 (this is the postman disease, autosomal recessive)

45
Q

specific granule deficiency problem

A

defect in CEBPE- can’t go from promyelocytes to myelocyte so =can’t make specific and gelatins granules.to

46
Q

how to diagnose specific granule deficiency

A

Patients present in early in life with deep-seated pyogenic infections, especially involving
the skin and lungs with risk for MDS/AML
* Diagnosis is made via review of the peripheral smear (pathognomonic lack of specific
granules and bilobed nuclei) and confirmed by electron microscopy and genetic
sequencing

47
Q

most common inherited disorder of phagocytes

A

MPO deficiency- rarely associated with clinical disease. if they do, they are completed healthy an Ethen get disseminated candida (especially with diabetes)

48
Q

Barth syndrome

A

Episodic neutropenia, cardiomyopathy,
methylglutaconic aciduria, pancytopenia. Gene-TAZ1

49
Q

ELANE cyloic neutropenia

A

autosomal dominant, Patients present in the 1st year of life with recurrent fevers, malaise, apthous
ulcers and occasionally serious bacterial infections (esp. Clostridium septicum).
Note when neutrophils are low, monocytes are HIG
* Formal diagnosis requires CBCPDs 2-3 times/week for 6-8 weeks to document
the oscillation in ANC.
* Treatment is G-CSF which shortens the period of profound neutropenia to 1-3
days. No (?minimal) increased risk for progression to MDS/AML.

50
Q

shwachman Diamond syndrome

A

autosomal recessive, SBDS gene, neutropenia + pancreatic exocrine dysfunction

51
Q

GATA2 haploinsufficiency

A

MONOMAC- low monos, neutrophils, BZ/NK, lots of viral and fungal infections, bone marrow failure, proteinosis of lungs. Need HSCT

52
Q

Pelger Huet Anomaly0- inheritance, what it is, what you see

A

autosomal dominant. Defect of granulocyte terminal differentiation- LBR gene. Neutrophils and eon hav bi lobbed nuclei

53
Q

May haggling anomaly- inheritance, what you see, gene

A

AD, mutations in myosin heavy chain (MYH9). Big platelets, maybe hearing loss and kidney disease. ZSEE large cytoplasmic inclusions in granulocytes and monocytes

54
Q

Myelokathexis (WHIM) syndrome - what it is, inheritance, gene , risk

A

AD, defect in CXCR4. abnormal apoptosis and retention of neutrophil in bone marrow. WHIM stands for warts, hypogammaglobulinemia, infections, myeljkathexis. Increased risk of HPV driven infections

55
Q

LAD 1- phenotype, defect, diagnosis

A

deficient expression of integrals (especially beta 2 integral called CD18). Diagnose by flow- CD18. this is the one with delayed umbilical diagnosis. Older patients have colitis and significant HPV infections

56
Q

LAD 2- problem,cllinickal manifestations, diagnoseis

A

defect in fucoslyation of macromolecules like selecting so your neutrophils just keep rolling. You can see neurological defects, craniofacial anomalies, and Bombay erythrocyte phenotype. Need genetic testing

57
Q

LAD3- defect, gene, and pgenotype

A

defect in integral activation with Kindling 3 mutation. Bleeding diathesis can be seen (also impacts plt)

58
Q

2 trophies for CGD

A

Bactrim and itraconazole, IFN gamma

59
Q

NADPH oxidase- most common problem in CGD

A

gp91phox and is the only x linked (gene CYZBB)

60
Q

outside of gp91phox, what is CGD inheritance

A

autosomal recessive

61
Q

best and other way for CGD diagnosis

A

DHR (favored), NBT is historical

62
Q

Chediak hitachi syndrome phenotype and clinical picture

A

partial albinism, immunodeficioency,bleeding diathesis, progressive neurological deterioration. defect n making and trafficking granules so you get giant coalesced granules in neutrophils (DIAGNOSIS) and decreased dense granules in platelets

63
Q

mutations for chediak higashi

A

CHS1/LYSTr

64
Q

risk for patients with chediak higashi

A

progression to accelerated phase akin to HLH

65
Q

hyperIgE syndrome- gene, what happens

A

Job syndrome (loss of STAT3), can also be dock8 or TYK2. Can’t respond to IL17. You get sinopulmonary 8infections, abnormal teeth, coarse facies, osteopenia, super super high IgE

66
Q

primary hyepereosinophia syndrome

A

clonal stem cell expansino- you get a gene mutation activating PDGFRA, PDGFRB, OR FGFR1

67
Q

defect in gaucher disease type 1

A

missing or defective lysosomal enzyme- glucocerebrosidzase

68
Q

antibody- warm AIHA

A

IGG +/- CZ3

69
Q

ANTIGEN- warm AIHA

A

common or pan reactive

70
Q

treatment for warm AIHA

A

long course of steroids, consider rite

71
Q

natural history AIHA

72
Q

paroxysmal cold hemoglobinurea- antibody and antigen

A

IgG (donate landsteiner). antigen is pl

73
Q

location of hemolysis- Paroxysmal cold hemoglob8inurea

A

intravascular

74
Q

cold agglutinin disease- antibody and antigen

A

antibody is IgM (DAT C3+) and antigen is I/i

75
Q

location of hemolysis- cold agglutinin disease

A

intravascular

76
Q

Paroxysmal cold hemoglobinurea- cause

A

viral infection

77
Q

cold agglutinin disease- cause

A

mycoplasma, EBV

78
Q

Hb O2 dissociation. Going Left does what and is caused by what

A

Left is less O2 release so greater affinity. Caused by increased pH, decreased temp, decreased 2,3 BPG

79
Q

Hb O2 dissociation. Going right does what and is caused by what

A

more O2 release so less affinity. Decreased pH, increased temp, increased 2,3 BPG

80
Q

two tests for HS

A

Eosin-5-Malemide (EMA) binding vs osmotic fragility

Boards (24 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions