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Heme Midterm 1 > Hemoglobin Disorders > Flashcards

Hemoglobin Disorders Flashcards

1
Q

Thalassemia definition

A

genetically heterogeneous conditions resulting from imbalance between amounts of alpha and beta globin chains

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2
Q

What type of mutations occur with alpha chains?

A

full deletions

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3
Q

What type of mutations occur with beta chains?

A

point mutations

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4
Q

Beta0 versus Beta+ thalassemias

A

0 means no beta chains produced and + means some produced still

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5
Q

Beta Thalassemia Major name and genotype

A

Cooleys anemia B0/B0

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6
Q

symptoms of beta thalassemia major

A

splenomegaly (can be massive), bone deformities, anemia, and iron overload

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7
Q

How to diagnose beta thalassemia major?

A

all a4 tetramers

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8
Q

what do alpha 4 tetramers in beta thalassemis major cause?

A

ineffective erythropoiesis or intramedullary hemolysis, and destruction of produced RBCs

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9
Q

intramedullary hemolysis

A

destruction of RBC precursors in bone marrow

seen in beta thalassemia major

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10
Q

why splenomegaly in beta thalassemis major?

A

sequesteration of RBCs that are not functional due to a4 tetramer Hb

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11
Q

why iron overload in beta thalassemia major?

A

transfusions required and give some iron

iron hyper absorbed in gut too

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12
Q

how to treat beta thalassemia major?

A

transfusions and chelation of iron

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13
Q

beta thalassemia minor characteristics

A

heterozygous state with a normal and problematic allele

usually asymptomatic with microcytic RBCs and elevated RBC count

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14
Q

how to spot beta thalassemia minor?

A

best way is to look for delta or HbA2 in electrophoresis because lack of beta will upregulate production of the delta chain for Hb

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15
Q

cis and trans two gene deletions for alpha thalassemia

which population has which one?

A

cis is –/aa common in asians

trans is a-/a- common in AA

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16
Q

one gene alpha thalassemia characteristics

A

asymptomatic, not anemic, normal

very prevalent though

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17
Q

two gene alpha thalassemia characteristics

A

microcytosis, mild anemia

electrophoresis of adult is normal

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18
Q

Hemoglobin Barts

A

gamma4 Hb…due to hypoxic enviro and with two alpha thalassemia will make these tetramers

will see on electrophoresis for newborn

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19
Q

Hemoglobin H disease Thalassemia characteristics

A

a-/–

known to be beta4 tetramers

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20
Q

CBC characteristics of hemglobin H disease

A

MCV low, Hb low, MCH low, high RDW

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21
Q

What happens to hemoglobin H?

A

as it ages it turns into heinz body cause it is unstable and it is eaten…bite cell formation….splenomegaly common in hemoglobin H

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22
Q

Hydrops fetalis thalassemia characteristics

A

a is –/–…so make gamma4 tetramers or hemoglobin Barts
in utero still birth death at 25 weeks

treated by bone marrow transplant or transfusions

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23
Q

hemoglobin C mutation change

A

6th AA in beta chain changed from glutamate to lysine

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24
Q

hemoglobin C smear findings

A

target cells and hemoglobin C crystals

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25
Q

Gardos Ion channel in sickle cell disease?

A

abnormal Hb/membrane interactions activate the channel and lead to cellular dehydration in sickle cell

26
Q

do sickle cells adhere to endothelial cells regularly? if not what is the risk?

A

no…creates risk of downstreak ischemia

27
Q

What is SC sickle disease?

A

this is when you have a sickle trait and a hemoglobin C trait…heme C causes worse dehydration of cells and leads to worse sickling

28
Q

Sickle-B0 thalassemia

A

sickle and B0 thalassemia combined…cannot distinguis from regular SS sickle

29
Q

Sickle-B+ thalassemia

A

sickle and B+ thalassemia so a bit milder since you have some normal Hb being made

30
Q

what happens to sickle cell patient spleen?

A

it is typically inactive and has infarcted by adulthood

31
Q

What may be cause of Hb count dropping below sickle cell patients normal anemic level?

A

parvovirus B19

splenic or hepatic sequestration, acute chest syndrome

32
Q

why do sickle cell patients have leukocytosis and thromobocytosis?

A

spleen not there to take them out

33
Q

thrombocytosis leads to what risk in sickle cell patients?

A

more venous clots

34
Q

Splenic sequestration crisis in sickle cell kids

A

outflow vessels of spleen are blocked with sickle cells and the spleen blows up with blood

have severe anemia and splenomegaly

treat with small transfusion

35
Q

aplastic crisis in sickle cell patient

A

parvovirus B19 prevents marrow from production so have rapid anemia

36
Q

painful crisis in sickle cell patients

A

vaso occlusion of flow to bones..leads to bone and joint pain

37
Q

trigger of painful crisis in sickle cell patients

A

exercise, dehydration, infection, cold, stress, menstruation, surgery, pregnancy

38
Q

common infections in sickle cell

A

encapsulated organisms cause of splenectomy

39
Q

in iron chelation therapy of sickle cell patient, what two organisms can cause problems?

A

yersinia and vibrio

40
Q

what organism commonly causes osteomyelitis and septic arthritis in sickle cell?

A

salmonella

41
Q

acute chest syndrome in sickle cell definition

A

hypoxemia, new infiltrate on chest Xray, new fever and chets pain, acute worsening anemia

42
Q

what two organisms lead to infection commonly causing acute chest syndrome in the sickle cell?

A

chlamydia and mycoplasma

43
Q

how can a fat embolism lead to acute chest syndrome in sickle cell?

A

necrotic bone marrow leads to fat deposits in the lungs…

44
Q

how to treat acute chest syndrome in sickle cell patient?

A

need early detection

antibiotics and oxygen

transfusion to lower HbS

45
Q

pulmonary hypertension in sickle cell patient characteristics

A

very common, mechanism is unknown, leads to death in 2 years by dyspnea chest pain and hypoxia, no good treatment besides prevention

46
Q

what is the reason for Stroke in sickle cell patients? what is age of onset?

A

not artherosclerosis but is due to disordered blood vessels

usually around age 5

47
Q

how to treat stroke in sickle cell patient?

A

acutely use exchange transfusions and chronically use regular transfusions to prevent further strokes

48
Q

how can we prevent strokes in young patients with sickle cell?

A

doppler of the head will show narrowing of vessels in cranium and can tell doc to give chronic regular transfusions to prevent stroke

49
Q

simple transfusion

A

give red blood cells

50
Q

exchange transfusion in sickle cell

A

give red blood cells and remove red blood cells to titrte to certain percent of HbS

51
Q

rule about transfusions in sickle cell

A

do not let hemoglobin get above 10….one unit raises it by 1

high Hb raises viscosity of blood and increases risk of stroke in sickle cell

52
Q

what type of transfusion for stroke, acute chest, and pre surgery?

A

stroke is exchange and others are simple

53
Q

What are two complications of transfusions in SCD?

A

iron overload and allo-immunization

54
Q

what does iron overload cause after a transfusion in SCD? how do you treat it?

A

organ failure..heart liver and endocrine

chelation

55
Q

allo-immunization in transfusion for SCD?

A

african americans have less RBC antigens, so need to give blood without C, E and Kell red cell groups so they do not react

56
Q

Isothenuria in SCD

A

cannot concentrate urine because of renal papillary necrosis (no oxygen)

57
Q

Avascular necrosis in SCD

A

affects heads of femurs and humeri, shoulder and hip pain

58
Q

priapism in SCD

A

occludes outflow of penis…long erections

59
Q

Hydroxyurea mechanism for SCD treatment

A

causes switch from beta chain to gamma chain so patient makes more fetal hemoglobin

60
Q

effects of hydroxyurea on SCD

A 
increases Hb
reduces sickle cell pain crises
reduces acute chest syndrome
prevent pulmonary hypertension
reduces mortality
61
Q

should you give hydroxyurea to pregnant?

A

NO

62
Q

side effect of hydroxyurea

A

bone marrow suppression so need to watch white cell count

Heme Midterm 1 (11 decks)

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