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Hemolytic anemia + LEUKOCYTES Flashcards

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1
Q

inheritnce- hereditary spherocytosis

A

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

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2
Q

what is the most common gongenital hemolytic anemia

A

HS

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3
Q

3 protiens associated with autosomal dominant HS

A

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

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4
Q

how do most non FH HS patients present

A

aplastic crissi

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5
Q

inheritance HE

A

autosomal dominant

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6
Q

SE asian ovalocytosis- phenotype and protein

A

band 3, mild version of HE

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7
Q

alpha LELY phenotype and protein

A

50% reduced alpha spectrim, HE modifier. most intense

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8
Q

hereditary pyropoikilocytosis- inheritance and protein

A

spectrim. baby has a HE and then a alpha LELY

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9
Q

Hydrocytosis- lab findings and utation

A

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

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10
Q

xerocytosis- lab, mutation

A

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

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11
Q

inheritance unstable hemoglboins

A

AD

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12
Q

clinical findings in unstable hemoglobins

A

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

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13
Q

most frequent unstable hemoglobin in the US

A

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

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14
Q

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

A

Hb Indianapolisis

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15
Q

most common RBC enzymopathy

A

G6PD

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16
Q

inheritance and how to diagnose PK def

A

AR, enzyme activity and sequencing (PKLR)

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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)

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18
Q

what happens in PK def after spleen out

A

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

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19
Q

inheritance and presentation- Glucose phosphate isomerase deficiency

A

AR. Hemolysis AND Neuro impairment

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20
Q

hemolysis + profound basophilic stippling inherited disorder

A

pyrimidine 5’ nucleotides deficiency

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21
Q

non heme finding in phosphofructokinase deficiency

A

myopathy

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22
Q

non heme finding in aldolase deficiency

A

myopathy (elevated CK)

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23
Q

non heme finding in trios phosphate isomerase def

A

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

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24
Q

non heme findings- phosphoglycerate kinase and inheritance

A

neuro +/- myopathy X

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25
no heme finding- adenylate kinase
neuro
26
acquired reasons for methemoglobinemia
drugs- lidocaine. dyes (bluing), nitrates (well water and whippets)
27
congenital causes of methemoglobinemia
Hb M variants (this is autosomal dominant, cyanotic infant with brown blood0. NAZDH METHb reductase def (AR)
28
who can you not give methylene blue to
G6PD
29
infant DAT test in Rh hemolytic disease
positive
30
what is upshaw-schulman syndrome
congenital ADAMTs 13 deficiency
31
2 proteins missing in PNH and what I the mechanism of hemolysis, gene and what chromosome
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
32
how to diagnose PNH
flow for CD55 and/or CD59 and leukocyte PI-olinked proteins
33
treatment pnh
complement inhibitors like eco
34
list 4 toxin associated hemolysis
clostridium, brown recluse spider bites, Wilson disease, and burns
35
3 categories of neutrophils
leukocytes, phagaoytes, granulocytes
36
4 types of neutrophil granules
1. Primary/azurophilic 2. specific/secondary 3/ tertiary/gelatinase, 4. secretory
37
steps of phagocyte recruitmetn
rolling, adherence, diapedesis, chemotaxis, ingestion, phagocytosisoxidative function
38
what do neutrophils phagocytose
things opsonized with C3 and IgG
39
mechanism: alloimmune neutropenia of newborns
passive transplacental transfer of maternal zIgzG against paternal antigens on infant neutrophils.
40
autoimmune neutropenia of infancy mechanism
acquired anti-neutrophil antibody
41
2 nutritional deficit that can cause neutropenia
B12 or folate def . nuclear hypersegs. also copper def
42
mortality risk of drug induced neutropenia
10%
43
characterization of ELANE-related neutropenia
this severe congenital neutropenia I an arrest in myeloid maturation at promyelocyte stageg
44
3 genes to know for congenital severe neutropenia
SCN, ELANE, HAX1 (this is the postman disease, autosomal recessive)
45
specific granule deficiency problem
defect in CEBPE- can't go from promyelocytes to myelocyte so =can't make specific and gelatins granules.to
46
how to diagnose specific granule deficiency
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
most common inherited disorder of phagocytes
MPO deficiency- rarely associated with clinical disease. if they do, they are completed healthy an Ethen get disseminated candida (especially with diabetes)
48
Barth syndrome
Episodic neutropenia, cardiomyopathy, methylglutaconic aciduria, pancytopenia. Gene-TAZ1
49
ELANE cyloic neutropenia
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
shwachman Diamond syndrome
autosomal recessive, SBDS gene, neutropenia + pancreatic exocrine dysfunction
51
GATA2 haploinsufficiency
MONOMAC- low monos, neutrophils, BZ/NK, lots of viral and fungal infections, bone marrow failure, proteinosis of lungs. Need HSCT
52
Pelger Huet Anomaly0- inheritance, what it is, what you see
autosomal dominant. Defect of granulocyte terminal differentiation- LBR gene. Neutrophils and eon hav bi lobbed nuclei
53
May haggling anomaly- inheritance, what you see, gene
AD, mutations in myosin heavy chain (MYH9). Big platelets, maybe hearing loss and kidney disease. ZSEE large cytoplasmic inclusions in granulocytes and monocytes
54
Myelokathexis (WHIM) syndrome - what it is, inheritance, gene , risk
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
LAD 1- phenotype, defect, diagnosis
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
LAD 2- problem,cllinickal manifestations, diagnoseis
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
LAD3- defect, gene, and pgenotype
defect in integral activation with Kindling 3 mutation. Bleeding diathesis can be seen (also impacts plt)
58
2 trophies for CGD
Bactrim and itraconazole, IFN gamma
59
NADPH oxidase- most common problem in CGD
gp91phox and is the only x linked (gene CYZBB)
60
outside of gp91phox, what is CGD inheritance
autosomal recessive
61
best and other way for CGD diagnosis
DHR (favored), NBT is historical
62
Chediak hitachi syndrome phenotype and clinical picture
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
mutations for chediak higashi
CHS1/LYSTr
64
risk for patients with chediak higashi
progression to accelerated phase akin to HLH
65
hyperIgE syndrome- gene, what happens
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
primary hyepereosinophia syndrome
clonal stem cell expansino- you get a gene mutation activating PDGFRA, PDGFRB, OR FGFR1
67
defect in gaucher disease type 1
missing or defective lysosomal enzyme- glucocerebrosidzase
68
antibody- warm AIHA
IGG +/- CZ3
69
ANTIGEN- warm AIHA
common or pan reactive
70
treatment for warm AIHA
long course of steroids, consider rite
71
natural history AIHA
recurs
72
paroxysmal cold hemoglobinurea- antibody and antigen
IgG (donate landsteiner). antigen is pl
73
location of hemolysis- Paroxysmal cold hemoglob8inurea
intravascular
74
cold agglutinin disease- antibody and antigen
antibody is IgM (DAT C3+) and antigen is I/i
75
location of hemolysis- cold agglutinin disease
intravascular
76
Paroxysmal cold hemoglobinurea- cause
viral infection
77
cold agglutinin disease- cause
mycoplasma, EBV
78
Hb O2 dissociation. Going Left does what and is caused by what
Left is less O2 release so greater affinity. Caused by increased pH, decreased temp, decreased 2,3 BPG
79
Hb O2 dissociation. Going right does what and is caused by what
more O2 release so less affinity. Decreased pH, increased temp, increased 2,3 BPG
80
two tests for HS
Eosin-5-Malemide (EMA) binding vs osmotic fragility
81

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