Red Cell Disorders Flashcards
Things to look at on boards in peripheral RBCs smears?
Size, color, shape, inclusions!
Common microcytic anemias (MCV <80)?
Macocytic (MCV>100)?
MCV?
MCH?
MCHC?
Iron deficency, anemia chronic disease, thalessemia, Sideroblastic anemia
Megaloblastic (B12 and folate deficency) and Non-megaloblastic
MCV: Hct/RBC
MCH: HB/RBC
MCHC: HB/HCT
Symptoms of Iron deficency anemia?
Most common cause US?
Most common cause world wide?
Labs?
Ddx from anemia chronic disease?
Fatigue, PICA, Koilonychia, atrohic glossitis
Blood loss in USA, Hookworm world wide
Decreased: Fe, ferritin, %saturation and MCV
Increased: TIBC, transferrin, RDW
ACD: Decrease serum iron but ferritin is INCREASED (increased storage protein)
Most sensitive test for iron deficency anemia?
Most specific?
Gold standard?
Ferratin; but not specific
**%iron saturation (transferrin saturation)
Bone marrow biopsy with negative stain!**
What blocks heme release from macropahges in Anemia of chronic disease?
Where is iron trapped in sideroblastic anemia?
Hepcidin
In RBCs mitochondria
Anemia of chronic inflammation has iron trapped where?
Can it be tx with EPO?
Labs?
Normo or microcytic?
In macrophage
No
Decreaed TIBC and transferrin, increased ferratin
Normo more common than micro
Sideroblastic anemia has iron trapped where?
Cause?
Labs?
In mitrochondria of RBCs
Cause: Porphorin abnormalities, Alcohol (most common), MDS/RARS, Toxins (heavy metal; lead zinc copper)
Increased ferritin, normal/low TIBC and MCV
Megakaryoblastic peripheral smear?
Marrow finding?
What has longer time of onset, Vit B12 or folate?
Which one has neurologic problems?
Large RBCs: Hypersegmented PMN’s (1 >6 lobes or 5% >5 lobes)
Marrow: Hypercullular, nuclear cytoplasmic dyssynchrony, Giant myelocytes, dysplasia common
B12 longer and has neuro problems: peripheral neuropathy, dorsal and lateral column demylenation
Lab tests for megaloblastic anemia:
B12 patients have what folate level?
Folate patients have what serum B12 level?
Is RBC folate better than serum?
B12 deficient patients have low RBC folate
Folate deficient patients have low serum B12
Flast low B12: Pregnancy, meyloma, haptocorrin deficiency
Yes more specific
Homoocysteine and MMA levels in Folate deficency?
In B12 deficiency?
Most specific antibody test for pernicious anemia?
Folate: Homocysteine increased, MMA normal
B12: Homocysteine and MMA both increased
Anti-intrinsic most specific; anti-parietal most sensitive
Hemolytic anemia leads to increase in what, needs what stain?
Labs?
Cause?
Reticulocytes, Supravital blue (methylene blue)
Labs: Increased LD and bilirubin, Decreased haptaglobin
Common causes: Hemolysis and bleeding
Intravascular hemolytic anemia is caused by?
Extravascular casued by?
Issues with RBCs: PNH TTP/HUS, heart valves
Free Hb in urine, schistocytes can be present
Extravascular: Something wrong with environment: G6PD, Hereditary Spherocytosis/Elliptocytosis, Thallasemia
No free H b in urine, sphereocytes common
What causes sphereocytes?
What causes hereditary sphereocytosis?
Autoimmune hemolytic anemia labs?
No central pallor: loss of surface membrane
Vertial interaction in RBC membrane, Increased MCV, MCHC; Ankrin mutation
Autoimmune: Low MCV and postivie DAT
What causes Hereditary elliptocytosis?
High or low levels of hemolysis?
Abn horizontal interations as it goes through capillary
Spectrin Alpha, Beta, or 4.1
Mild hemolysis
Low hemolysis
What is a stomatocyte?
Inheritence pattern, defect in?
Non-hereditary caused by?
Looks like mouth
Hereditary: Auto dom: Defect in Na/K permebalitiy?
Alcohol and liver disease; Rh null
G6PD deficiency is an issue in what?
Pyruvate kinase deficiency is an issue in what pathway?
Pentose phosphate pathway to make NADPH
ATP generation
What are Heinz bodies/made of, see in?
G6PD has what level of reticulocytes?
Lab tests?
Associated with?
Also see what in smear?
Hemoglobin, Supravital; G6PD, unstable Hb, alpha Thal
Normal
NADPH flourescense decreased, Qunitative G6PD at 340nm
X-linked men, Favra benes, drugs, infection
Heinz body, bite cell, blister cell
What is an echonocyte/burr cell; associated with?
What can’t pyruvate kinase deficency make?
What moluecule stays at normal level?
Lab test?
Burr also seen in?
Burr cell; Pyruvate kinase defciency/Auto recessive
Can’t make ATP
Normal to increased 2,3-DPG; can transport O2
use flurescent spot test for PK and PK assay
Renal disease, drying, burns
How does an Acanthocyte/spur differ from a burr cell?
Seen in?
What is Mc Cloud syndrome?
Spur; longer and less cytoplasic projections
Liver disease, post splenectomy, Abetaliporptenemia
Mccloud: Mutated Kx gene on X chr leads to weak Kell
HbA made up up?
HbA2 made of?
HbF made of?
A2B2
A2D2 3% normal adults
A2Y2: not in adults
In alkaline gel what runs with S band?
What runs with C band?
What runs in acid gel A band?
Alk S; D, G, Lepore, India, Hasharon
Alk C: A2, E, O, C (A CEO)
Acid A: D, A2, G, E, N, I, H , Lepore
Alk gel slow moving?
Alk:Fast moving?
Acid Gel order (anode + to cathode -)
Slow: Constant spring
Fast: N, I, H, Barts (NIH B)
CSAF: Christmas safe A for
Sickle cell point mutaiton?
How do spleens infarct?
Associated with?
Labs/tests?
B-globulin Glutamic acid to valine at position 6
Autoinfarction
RENAL MEDULLARY CARCINOMA
SS, SA, C Harlem: Metabisulfate sicking test (micro) and sicke solubilitiy (dithionite solubility) (lines in fluid)
How does sickle solubility work?
Common false negative?
Add reducing agent to lysed RBCs; if Hg S, SS, S and SC present; then ppt’s
LINES CANNOT BE SEEN
False neg: Post transfusion or in babies (HbF doesn’t ppt)
False positive: Hypergammablogulinemia, lipemic samples
HbSC has what labs and PB findings?
How severe is alpha thalassemia and HbS?
How severe is beta thalassemia and HbS?
50% S and C; target cells and crystals (seen in AC, and CC as well)
- *A thal and HbS:** less evere, <35% HbS
- *B-thal + HbS: more severe, >50% HbS**
Target/condocytes have what osmotic fragility?
Associated with?
Increased; due to too much membrane
HbC, HbE, HbS, liver disease, hyperlipidemia, thalessemia
What is hemoglobin E disease and presents with what lab values (Thalessemic indicies?)
PB findings, runs on alk gel in what band?
What part of world?
Mild anemia: Microcytic (MCV <75) and erythrocytosis (RBC >5.5e12)
Target cells; HbE runs in HbC area on alk gel
Asia
Can alpha thal electro phoresis look normal?
Beta thalasemia leads to?
B thal eletrophoresis shows?
Yes (or can have Hb H and Barts bands); can even have normal HbA, A2 and F levels!
Gene deletion good
B-thal: A4 tetramers common
Decreased A, increased A2 and F
Point mutaiton BAD
What alpha thal is silent carrier?
What happens if you lose 2 (cis/trans)?
Loss 3?
Loose 4?
1: Silent
2: Thal indicies; normal electro
trans (-a/-a) better prognosis: Black
cis (–/aa); poor prongosis; Asians
3: Thal indicies: Fast migrating Hb H ~20%, Hb A 80%; gold ball ppt on supravital
4: Thal indices Fast migrating Hb Barts 100%
B naught is?
Beta + is?
B thal minr, intermedia, major?
No beta
Can make some beta
Minor; Asymptomatic, mild microcytic anemia, HbA 94%, A2 6%
Intermedia: Not transfusion dependent,
Major: no beta chain, Coole’s anemia, severe, transfusion dependent
Hb F 98% in B naught
Hb A 20%, F 80%, +/- A2 in B+
PB of Beta thal minor?
PB Beta thal major?
Minor: Normal; minor increase in A2 (4-8%); decreased MCV and increased RCC (>5.5e12)
Major: Ugly, anisopoikilocytosis, nuc RBCs, target cells, tear trops and stippling!
Paroxysmal nocturnal hemoglobinuria has mutation in what gene?
Intravascular or extravascular?
Leads to what in marrow?
What causes the hemolysis?
PIG-A on chr X; Anchors CD59, CD55, CD14, CD16 and CD66
Intravascular
Thrombophilia (clotting and death), Marrow failure, aplastic anemia, increased AML and MDS risk!!
Complement, Leads to Fe deficiency (hemosidinuria and pee out iron)
Diagnose PNH?
Complement RBC lyssis; HAM acidified; complement sensitised RBCs that lyse
Flow: Loss of CD55, 59, CD16, CD66, CD14
FLARE: decreased aerolysin binds to GPI so DECREASED in PNH
Criteria to diagnose aplastic anemia?
Causes?
Absolute neutrophils <500 mL, Plts <20e10/L, <1% retics, BM cellularity <25%
T-cell autoimmune diseases, drugs liek cyclosproin
Risk of MDS, PNH and AML!
Howell-Jolly what is it, associated with?
Heinz body, associated and make of?
HJB: H and E single inclusion; Made of DNA; MDS, post splenectomy, sickle cell, anemia
G6PD: hemoglobin ppt
Basophilic stippling seen in, made of?
Pappenheimer body is, made of, stain, associated?
Made of RNA; Multiple inclusions: lead posioning and pyrinidin 5’ nucleotidase deficiency
Pappenheimer: Multiple clumped inclusions in RBC with irregular distribution, Made of Fe/seen on Fe stain, seen in Fe overload and post splenectomy
What is a Cabot ring, made of, associated with?
Causes of auto agglutination?
CBC values that are messed up?
Tx?
Ring/figure 8 shapped RBC inclusion, Made of microtubule/mitotic spindle, megaloblastic anemia, CDA, and lead posioning
Auto: IgM antibodies, mycoplasma infection, mononucleosis
Low RBC count, increased MCV due to automatic machine detection errors
Warm
Worst kind of malaria?
Has what at cell membranes?
Does it have Schizont’s or Banana shaped gametocytes?
P. Falciparum
Accole/applique forms at membrane
No Schizont’s but banana shaped gametocytes
Babesia infection caused by?
RBC’s have?
Common in what aprt of the world?
PCR target?
Ixodes spacularis (same as lime and Ehrlichiosis **rings/inclusions; 4 together is Maltese cross**
NE US
18S subunit
Congenital dyserythropoietic anemia has what EM finding, and genetic testing needed for?
BM shows?
Do these have to show up at birth?
CDAN1 testing needed, EM showes nuclear membrane changes
Erythroid hyperplasia, variable internuclear briding, budding, and multinuclation
Yes andNo: Issues might not show up until middle age; splenomegally and skeletal abnormalities/dysmorphic features
Which CDA has red cell to red cell thin bridges?
Which one has gigantoblasts (giant multi nucleated cells)
Type 1
Type 3
