BLI 6 - Microcytic Anemia (Siddiqui) Flashcards
Increase in HbF
beta-thal major
Clinical manifestations of lead poisoning
L: Lead lines on gingivae & metaphyses of long bones
E: Encephalopathy, Erythrocyte basophilic stippling
A: Abdominal colic, sideroblastic Anemia
D: Drops - wrist and foot drop, Dimercaprol and EDTA 1st line of tx
Koilonychia (spoon nails)
iron deficiency anemia
whole gene deletions, asymptomatic, mild microcytic anemia
alpha-thal minor
Alcohol poisons mitochondria B6 deficiency due to isoniazid
Acquired sideroblastic anemia
thalassemia - africans
Trans-deletion
EPO - down
Hepcidin - up
ACD
Labs for iron deficiency anemia:
- Serum iron
- %sat -Serum ferritin
- FEP (free erythrocyte protoporphyrin)
- sTfR (soluble transferrin receptor) - TIBC
Serum iron - down
TIBC - up
%sat - down
FEP - up
Serum ferritin - down
Lab results for ACD:
- Serum iron
- Serum ferritin
- %sat -sTfR (TIBC)
- FEP
Serum iron - N to down
Serum ferritin - up
%sat - N to down
sTfR - down (always opposite ferritin)
FEP - up
Incompatible with life – Hydrops fetalis
Hb Barts (homozygous alpha-thal)
- “all 4” alpha mutated
- excess gamma forms tetramers
whole gene deletions, symptomatic, hemolytic and microcytic anemia, splenomegaly
Hb H Disease (alpha-thal)
- transfusion dependent
- “3 of 4 alpha” mutated
- excess beta globin forms tetramers = Hb H
Koilonychia Pallor of skin/face Conjunctival pallor Palmar pallor Atrophic glossitis
IDA
Lab results for sideroblastic anemia:
- Serum iron
- TIBC/sTfR
- %sat
- Serum ferritin
Serum iron - up (accumulates as ring sideroblasts)
TIBC/sTfR - down
%sat - up
Serum ferritin - up
Iron sequestered in macrophages
Chronic inflammation
Mutation in ALAS
Sideroblastic anemia
Menstruation Childbirth GI disease
IDA - chronic blood loss
IDA + Esophageal webs + atrophic glossitis
Plummer-Vinson syndrome
Increase in Hb A2
beta-thal minor
X-linked
Sideroblastic anemia
Lead poisoning
Acquired sideroblastic anemia
RA, SLE, IBD, cancer
Increased hepcidin
ACD
Massive erythroid hyperplasia
Thalassemia
Childhood
Pregnancy
IDA - increased requirement
Lab value that is high when TIBC is low
Ferritin - iron storage
thalassemia - asians
Cis-deletion - LETHAL risk in offspring
Sprue Gastric bypass
IDA - malabsorption
_____, ______ anemia with target cells and nucleated RBC’s is seen with thalassemia
Microcytic, hypochromic
mild disease due to point mutation, asymptomatic
beta-thal minor
Iron deficiency blood smear: -MCV -MCHC -RDW
MCV - down MCHC - down RDW - up
Iron deficiency anemia begins as ______, ______ anemia
normocytic, normochromic
whole gene deletions
alpha-thalassemia
crewcut appearance
Thalassemia
Excess alpha chains dimerize with delta (Hg A2) - isolated increase
beta-thal minor
Elevated HbA2 or HbF
Beta-thalassemia
inhibits iron transport
hepcidin
Lab value that is high when ferritin is low
TIBC - indirect measurement of transferrin
how do you calculate % saturation
serum iron / TIBC
Asian Middle Eastern Mediterranean (Italian-American)
Thalassemia
alpha genes
4 alpha genes chromosome 16
beta genes
2 beta genes chromosome 11
Lead chelation for kids
Succimer
Decreased overall iron
Fe deficiency
Breast fed infants Elderly Pregnant women
IDA - inadequate diet
severe anemia becomes symptomatic after 6 months of age, transfusion-dependent
beta-thal major absent Hb A production, only Hb F production (protective at birth)
Lab values seen when you suspect increased hepcidin
Increased ferritin Decreased TIBC
binds ferroportin
hepcidin
Decreased protoporphyrin synthesis
Sideroblastic anemia
Absent or markedly decreased Hb A Hb F increased and alpha tetramers precipitate
beta-thal major
point mutations
beta-thalassemia
Inhibits ALAD and Ferrochelatase
Lead poisoning
Thalassema: - MCV _______
MCV 5 x 10^12/ L
Decreased globin chain synthesis
Thalassemias
pica - craving clay, ice chips, etc
iron deficiency anemia