Red Blood Cell Disorders

Question 1

anemia is defined as Hb under ____ in males and ____ in females

Answer 1

13. 5 in males

12. 5 in females

Question 2

microytic anemias are due to

Answer 2

decreased production of hemoglobin

microcytosis is due to an extra division of RBC progenitor cells which occurs to maintain hemoglbin concentration

Question 3

hemoglobin is made of

Answer 3

heme and globin

heme is made of iron and protoporphyrin

Question 4

microcytic anemias are due to

Answer 4

A SLIT

anemia of chronic disease
sideroblastic anemia
iron def anemia
thalassemias

Question 5

defects = what

Hb = heme + globin (___)

heme = Fe(_____) and protoporphyrin (_____)

Answer 5

globin = thalassemia

Fe (IDA)
(anemia of chronic disesae when iron is stored due to chronic inflammtion)

protoporyrin (sideroblastic anemia)

Question 6

absorption of iron is in the

Answer 6

duodenum

the dude has an iron gut

Question 7

transporter for heme in gut

Answer 7

DMT1

Question 8

enterocytes transport iron across the cell membanre into the blood via

Answer 8

ferroportin

Question 9

___ transfers iron in blood to liver

Answer 9

transferrin

Question 10

causes of iron deficiency in

infants
children
adults
elsderly

other causes

Answer 10

infants: breast feeding (human milk is low in iron)
children: poor diet
adults: peptic ulcer disease in males and menorrhagia or pregnancy in females

elderly: colon polyps/carcinoma
hook worms in the developing world

gastrectomy (acid aids iron absoprtion by maintaining the Fe2+ state (fe2+ goes in2 the body)

Question 11

ferritin and TIBC levels

Answer 11

are always opposite

Question 12

koilonychia

Answer 12

spoon shaped nails with IDA

Question 13

RDW in IDA

Answer 13

increased

Question 14

ferritin, tibc, serum iron and % sat

what is increased

Answer 14

all decreased but TIBC increased

increased free erythrocyte protoporphyrin

Question 15

anemia of chronic disease associated with

Answer 15

anemia associated with chronic inflammation (endocarditis or autoimmune conditions) or cancer

Question 16

anemia of chronic disease and hepcidin

Answer 16

increase production of hepcidin which sequesters inron storage by limiting the transfer of it from macrophages to erythroid precursors

also by suppressing EPO

point is to prevent bacteria from accessing iron which they need to survive

Question 17

anemia chronic disease

ferritin, tibc, serum iron, and % staturation

Answer 17

ferritin only thing incrfeased

Question 18

ring sideroblasts

Answer 18

iron in the mitochondria but no protoporph so the mitochondria gets loaded with iron and there is a ring o mitochondrial filled with iron around the nucleus = ringed sideroblast

Question 19

sideroblastic anemia cause

Answer 19

congenital or acquired
congenital = defect in ALAS enzyme

acquired from alcohol : mitochond poison
lead poison: inhabitas ALAD and ferrochelatase
vitamin B6 def needed for ALAS
-side effect of isoniazid treatment

Question 20

lab findings of sideroblastic anemia

Answer 20

ferritin, serum iron, and % iron sat increased

TIBC decreased

Question 21

how many alpha genes are there and what chromosome

Answer 21

4 on chrom 16

Question 22

one alpha gene deleted means

Answer 22

asymptomatic

Question 23

two alphas genes deleted and trans vs cis

Answer 23

mild anemia with increased RBC count
cis deletion is asssociated with increased risk of severe thalassemia in offspring (asians are cissies)

trans deletion seen in africans and afro americans

Question 24

three alpha genes deleted

Answer 24

severe anemia
beta chains form tetramers (HbH) that damage RBCs
HbH seen on electrophoresis

two B2 chains join to make B4 which damages RBCs

Question 25

four alpha genes deleted

Answer 25

lethal in utero
hydrops fetalis
y chians form tetramers (Hb Barts) that damage RBCs

Question 26

b thalasemia is usually due to what

Answer 26

gene mutations (pt mutations in promoter or splicing sites)

Question 27

b thalasemia seen most in what pop

Answer 27

africans and medit descent

Question 28

___ B genes on chrom __

Answer 28

2 on 11

Question 29

mutations of B gene result in

Answer 29

absent = B0

or diminished = B+

Question 30

b thalassemia mino

Answer 30

B/B+
asymptomatic with increased RBC count
microcytic ypochromic RBCs and target cells on blood smear

Question 31

b thalassemia major

Answer 31

B0/B0
most severe
severe anemia a few months after birth, high HbF at birth is temporarily protective

unpaired alpha chains precip and damage RBC membrane = ineffective erythropoiesis and extravascular hemolysis (removal of RBCs by spleen bc abnormal)

Question 32

massive erythroid hyperplasia in skull resulting in expansion of hematopoiesis into the skull (crew cut appearance x ray) and facial bones (chiponk facies)

extramedullary hematopoiesis with HSM and risk of aplastic crisis with parvovirus B19

Answer 32

B thalassemia major

Question 33

smear shows microcytic hypochromic RBCs with target cells and nucleated RBCs

Answer 33

B thal major

Question 34

electrophoresis shows HbA2 and HbF with little or no HbA

Answer 34

b thal major

Question 35

inherited defect of ankyrin, spectrin, or band 3

Answer 35

HS

Question 36

membrane blebs are formed and lost over time

Answer 36

HS

makes cells round instead of disc shaped

Question 37

spherocytes with loss of central pallor

Answer 37

HS

Question 38

HS lab findings RDW and MCHC

Answer 38

both increased

Question 39

howell jolly bodies

other disease

Answer 39

HS

removed spleen means frags of DNA present in cell and not removed anymore

or sickle cell

Question 40

treatment of HS

Answer 40

splenectomy

Question 41

diagnosis of HS

Answer 41

osmotic fragility test

Question 42

HS clinical findings

Answer 42

splenomegaly, jaundice, with unconjugated bili, increased risk for bili gallstones

Question 43

sickle cell anemia inheritance

Answer 43

AR in B chain of hemoglobin

Question 44

other chipmunk and crewcut

Answer 44

sickle cell