RBC DISORDERS Flashcards

1
Q

Point mutation in which gene

A

Beta globin gene

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2
Q

_______ acid is replaced by ______ acid in 6th position

A

Glutamic acid
Valine

causes aggregation of Hb

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3
Q

Size of sickle cells

A
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4
Q

Skull x ray findings

A

Crew cut d/t marrow expansion from erythropoies

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5
Q

RBC findings

A

Crescent shaped

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6
Q

Complications

A

Aplastic crisis due to PVB19
Autosplenectomy HJ bodies
Splenic infarct sequestration crisis
Painful vaso occlusive crisis dactylitid priapism acutr chest syndrome
CXR CHEST INFILTRATES
Avascular necrosis
Stroke
Hemauria ( suckling in renal medulla > renal papillary necrosis)

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7
Q

IOC

A

HPLC
HB EP - ⬆️ HbF HbS

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8
Q

Treatment

A

Hydroxyurea
Stem cell transplant

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