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Semestre 6: bloque 2 > Hemato Week 1 > Flashcards

Hemato Week 1 Flashcards

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1
Q

Defect on immunodeficiencies (7)

A

LAD1: CD18
CGD: NADPH oxidase
Bruton: BTK
Hyper-IgM: class switch (CD40)
CVID: B cell differentiation
SCID: IL-2Ra gamma chain
Ommen sx: RAG or ILRa7

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2
Q

Clinical manifestations of LAD

A

Nonsuppurative bacterial infections
Delayed separation umbilical cord
Periodontitis and gingivitis

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3
Q

Clinical manifestations of CGD

A

Infections by catalase (+) moo
Pulmonary aspergillosis
Granuloma formation

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4
Q

Diagnosis for CGD

A

DHR → no green
NBT → no blue

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5
Q

Clinical manifestations of Bruton agammaglobulinemia

A

Severe infections by encapsulated bacteria and enterovirus
Hypoplasia of lymphoid tissue

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6
Q

Diagnosis of Bruton agammaglobulinemia

A

Absent B cells
Normal T cells
Low Igs of all classes

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7
Q

Clinical manifestations of hyper-IgM syndrome

A

Sinopulmonary infections
Failure to thrive

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8
Q

Diagnosis of hyper-IgM syndrome

A

Low IgG, IgA, IgE
Normal or high IgM

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9
Q

Clinical manifestations of CVID

A

Sinopulmonary infections
Increased risk lymphomas and autoimmune disorders

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10
Q

Diagnosis of CVID

A

Low IgG, IgA, IgM
Low plasma cells
Normal B and T cell counts

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11
Q

Clinical manifestations of SCID

A

Asymptomatic at birth
Thrush
Chronic diarrhea

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12
Q

Diagnosis of SCID

A

Low TRECs
Absent T cells
Thymic shadow

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13
Q

Clinical manifestations of Ommen sx

A

Erythroderma
Adenopathy
Hepatosplenomegaly

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14
Q

Diagnosis of Ommen sx

A

Autosomal recessive SCID
High IGE levels

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15
Q

Types of anemia

A

Microcytic: MVC<80
Normocytic: MVC 80-100
Macrocytic: MCV >100

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16
Q

Examples of microcytic anemias

A

Iron deficiency, thalassaemias, late phase chronic disease

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17
Q

Examples of normocytic anemias

A

GP6D deficiency, autoimmune hemolytic anemia, early phase chronic disease

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18
Q

Examples of macrocytic anemias

A

Megaloblastic anemia, liver disease, alcohol use

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19
Q

Where is erythropoietin found

A

90% peritubular interstitial cells
10% liver

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20
Q

Function of hemoglobin

A

Helps RBC transport O2 and CO2

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21
Q

Hb present when iron is oxidized (Fe3) rather than Fe2 and manifests as cyanosis

A

Metahemoglobinemia

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22
Q

Red cell metabolism pathway

A

Embden-Meyerhof pathway

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23
Q

Clinical features of anemia

A

Shortness of breath, weakness, lethargy, palpitations, headaches, pallor, tachycardia

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24
Q

Where is bone marrow aspiration done

A

Posterior iliac crest

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25
Most common cause of anemia
Iron deficiency
26
Delivers iron to tissue
Transferrin
27
Where does most iron come from
Death of RBC that release iron from hemoglobin
28
Difference between ferritin and hemosiderin
Ferritin: soluble, iron storage protein Hemosiderin: insoluble, long-term storage
29
Values in iron overload and iron deficiency
Overload: ↑ ferritin ↓ TfR1 and DMT-1 Deficiency: ↓ ferritin and ALA-S ↑ TfR1
30
Action of hepcidin
Iron homeostasis: inhibitrs iron release by degrading ferroportin
31
Hepcidin physiology in iron overload
Transferrin stimulates BMP6 → binds to BMPRs → forms BMPR TFR2 HJV HFE complex → SMAD signalling → hepcidin synthesis
32
Hepcidin physiology in iron deficiency
↓ transferrin → ↓ BMP production → TFR2 degrades and HFE binds to TFR1 → TMPRSS6 cleaves HJV → no signaling complex → no hepicidin synthesis
33
Interleukin in inflammation that increases hepcidin synthesis
IL-6
34
Factors that reduce iron absorption
Fe3+ Alkalis (antacids) Precipitating agents (phosphates) Inflammation
35
Where is dietary iron absorbed
Duodenum
36
Function and location of ferrireductase
Apical surface Converts iron from Fe3+ to Fe2+
37
Function of DMT-1
Transfers iron from lumen across enterocyte
38
Function and location of ferroportin
Basolateral surface Exit of iron from cell to plasma
39
Function and location of ferroxidase
Basal surface Converts iron from Fe2+ to Fe3+
40
Specific clinical features of iron deficiency anemia
Glossitis, angular stomatitis, spoon nails, pica
41
Main cause of iron deficiency anemia
Chronic blood loss
42
Labs in iron deficiency anemia
↓ iron ↓ ferritin ↑ TIBC
43
Tx for iron deficiency anemia
Oral iron (ferrous sulphate) for 6 months
44
Labs in chronic disorders anemia
↓ serum iron, ↓ TIBC, ↑ serum ferritin
45
Pathophysiology of chronic disorders anemia
↑ hepcidin levels stimulated by IL-6 and IL-1
46
Characteristics of IRIDA
Mutations matriptase 2 Allows inhibited hepcidin secretion
47
Presence of many ring sideroblasts in bone marrow
Sideroblastic anemia
48
Defect in sideroblastic anemia
X-linked: ALA-S mutation Acquired: myelodysplasia
49
How is vitamin B12 obtained
Synthesized in nature by moo Found in foods of animal origin
50
What binds to B12 to help with its absorption in the ileum
Intrinsic factor
51
What synthesizes intrinsic factor
Parietal cells
52
What binds to B12 in saliva and gastric juice
Haptocorrin
53
Transports B12
Transcobalamin
54
Biochemical functions of B12
Methyl B12 → cofactor for methionine synthase Deoxyadenosyl B12 → conversion methylmalonyl CoA to succinyl CoA
55
pH of duodenum so low that pancreatic enzymes that normally release B12 from haptocorrin are inactivated
Zollinger-Eddison syndrome
56
Characteristics of pernicious anemia
Immune attack on gastric mucosa Achlorhydria → destruction of parietal cells
57
Causes of megaloblastic anemia
B12 or folate deficiency
58
Specific clinical feature of megaloblastic anemia
Jaundice
59
Complication due to B12 deficiency only
Neuropathy
60
Complication due to B12 or folate deficiency
Neural tube defect
61
Labs in megaloblastic anemia
Megaloblasts, ↓ reticulocyte ↓ WBC/platelet count Hypersegmented neutrophils
62
Tx for megaloblastic anemia
B12: IM hydroxocobalamin 1000 ug x 3 months Folate: oral folic acid 5 mg Pregnant women: folate 400 ug/day
63
Broken down by macrophages to biliverdin and bilirubin
Protoporphyrin
64
Binds Hb if there is either intravascular/extravascular hemolysis
Haptoglobins
65
Anemia that results from increase in rate of RBC destruction
Hemolytic anemia
66
Classification of hemolytic anemia
Hereditary → intrinsic defects Acquired → extracorpuscular or environmental defects
67
Unique characteristic of paroxysmal nocturnal hemoglobinuria
Acquired but RBC have intrinsic defect
68
Clinical feature of hemolytic anemias
No bilirubin in urine → black due to excess of urobilinogen
69
Labs in hemolytic anemia
↑ bilirubin, ↑ urine urobilinogen Absent haptoglobins Reticulocytosis Bone marrow erythroid hyperplasia
70
Difference between intravascular and extravascular hemolysis
Extravascular → excessive removal of RBC by RE system Intravascular → broken down directly in circulation
71
Characteristics of hereditary spherocytosis
Ankyrin deficiency Defect in membrane of RBC Jaundice, splenomegaly, pigment gallstones
72
Characteristics of hereditary elliptocytosis
Milder clinical manifestations Failure spectrin heterodimers
73
Characteristics of hereditary stomatocytosis
Xerocytosis and overhydrated stomatocytosis RBC have mouth-like slits
74
Characteristics of GP6D deficiency
GP6D reduces NADP to NADPH Deficiency makes RBC susceptible to oxidant stress
75
Defect in warm hemolytic anemia
RBC coated with IgG or complement and taken by RE macrophages → coated membrane lost and cell becomes spherical → prematurely destroyed in spleen
76
Dx and tx of warm hemolytic anemia
Dx → DAT positive, antibodies detected at 37ºC Tx → corticosteroids (prednisolone)
77
Defect of cold hemolytic anemia
IgM autoantibody attached to RBC in cool temperatures (4ºC)
78
Dx and tx of cold hemolytic anemia
Dx → DAT reveals C3d in RBC surface Tx → keep warm
79
Cause of paroxysmal cold hemoglobinuria
Donath-Landsteiner antibody → IgG antibody with specificity to P blood group
80
3 mechanisms of drug induced hemolytic anemia
Antibody vs drug-cell membrane complex (penicillin) Deposition of complement via drug-protein-antibody complex onto RBC surface (quinidine, rifampicin) True autoimmune hemolytic anemia where drug role is unclear (fludarabine)
81
Genetic disorders that result from reduced state of synthesis of a or b globin chains
Thalassaemias
82
3 main syndromes of thalassaemia
Thalassaemia major: transfusion dependent Thalassaemia intermedia: non-transfusion dependent Thalassaemia minor: carrier state and mild anemia
83
Defect of a-thalassaemia syndromes
a-globin gene deletions
84
Defect of b-thalassaemia syndromes
Point mutations in b-globin gene
85
Clinical features of b-thalassaemia
Expansion of bones Frequent infections Hepatocellular carcinoma
86
Cause of anemia secondary to chronic disease
Inflammation → increases IL-6 and hepcidin

Semestre 6: bloque 2 (10 decks)

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