BRS- Heme Flashcards
At what point in life is the physiologic nadir of hemoglobin concentration?
Time of HbF disappearance?
2-3 months= nadir
6-9 months= HbF disappearance
How common is anemia in kids?
20% US kiddos
80% worldwide kiddos
Reticulocyte count reflects _____.
Normal percent blood count made up of retics?
number of immature RBCs/ activity of bone marrow
normally 1%.
2 Most common types of microcytic, hypochromic anemia in kids? 3 others?
#1: IDA #2: B thal (also: lead, sideroblastic, chronic dz)
Causes of IDA in kiddos
- lack of dietary iron
- early ingestion of cows milk
- occult blood loss
- menstruation
2 weird key symptoms of anemia
spoon shaped nails
diminished attention
also paleness, fatigue etc
Labs assc with IDA:
- low ferritin (early)
- increased transferrin
- decreased transferrin saturation
- increased free erythrocyte protoporphyrin
3 causes of macrocytic anemia
-B12
-folate
-thiamine
deficiencies
Normocytic normochromic anemia with low retic counts
- malignancy
- fanconis
- red cell aplasias
Three types of red cell aplasia
TEC
Diamond Blackfan
Parvo B19
When should workup to determine cause of anemia begin?
When anemia is not responsive to iron therapy.
HbA1 makeup
A2B2
PE finding in thalassemias
- increased size of bone in the face (chipmunk facies)
- increased size of bone in the skull (crew cut)
What populations are predisposed to a/b thal?
A: Asians
B: Meditteraneans
How many types of A thal exist?
B thal?
A thal- 4
B thal- 2
(4 alleles exist for A, 2 for B)
What are the two most severe types of a thal?
- HbH disease, some Hb Barts present, which binds O2 very tightly
- Fetal Hydrops, only Hb Barts present, not compatible with life.
(BARTS BABIES BAD!)
Labs assc with B Thal
- increased HbF
- low HbA1
- target cells
- high bili/LDH (hemolysis)
Complication assc with thalassemia treatment and how to prevent it?
- hemochromatosis due to chronic transfusion
- prevent with deferoxamine
Iron level in B thal minor
-normal to high
Sideroblastic anemia:
basic pathologic cause
iron in the mitochondria
4 causes of of acquired sideroblastic anemia
- lead
- isoniazid
- alcohol
- chloramphenicol
B12:
- cogactor for absorption + source
- site of absorption
- intrinsic factor, gastric parietal cells
- terminal ileum
2 weird manifestations of B12 def
- beefy red tongue
- neuro findings
Three classes of normocytic anemia + how to distinguish them?
- hemolytic (high retics)
- aplasia (low retics, poor bone marrow effort)
- sickle cell (high retics)
Three types of aplastic anemia
- malignancy
- red cell aplasia
- drug suppression
Hereditary spherocytosis:
- inheritance pattern
- assc protein
- AD
- spectrin
3 features assc with hereditary spherocytosis:
- pigmentary gallstones
- aplastic crises
- splenomegaly
Test assc with hereditary spherocytosis:
-osmotic fragility studies
Condition aside from hereditary spherocytosis that is AD And assc with spectrin?
hereditary elliptocytosis
Enzymatic defects of RBCs:
+ which is most common?
- G6PD*
- pyruvate kinase
Enzymatic and RBC structural defects are classified as what type of anemia?
hemolytic
PK deficiency:
- leads to depletion of ____.
- RBC appearance ______.
- treatment
- ATP
- polychromic
- transfusion/ splenectomy
Three drugs assc with G6PD crisis + how far from exposure do symptoms begin?
nitrofurantoin
sulfa drugs
antimalarials
fava beans
24-48 hours
G6PD smear appearance
- bite cells
- Heinz bodies
AIHA:
- frequent cause of acute AIHA
- assc test
- treatment
- respiratory infection, virus, drugs
- positive direct coombs
- steroids = rapid complete recovery
Secondary AIHA/ chronic causes:
- lymphoma
- SLE
- Immunodeficiency
Two most common causes of alloimmune hemolytic anemia
- Rh Hemolytic Disease (mom type -)
- ABO hemolytic Disease (mom type O)
Test that distinguishes Rh Hemolytic Disease from ABO -
direct coombs
- strongly positive in Rh
- weakly positive in ABO
Microangiopathic Hemolytic Anemia:
- type of damage
- four assc conditions
- mechanical damage
- HUS, artificial heart valves, hemangioma, DIC
Two types of cells seen on Micro HA smear:
- burr cells
- target cells
Gene mutation assc with sickle cell
VGB6
valine –> glutamic acid B6 chain
When does sickle cell become symptomatic?
~6-9 months when HbF declines
Leading cause of death in sickle cell
-infection by encapsulated bacteria due to decreased splenic function
Bacteria dangerous to SS patients
- strep pneumo
- H flu
- Neisseria
5 weird sickle cell complications
- dactylitis
- salmonella osteomyelitis
- stroke
- priapism
- acute chest syndrome
SCA Sequestration crisis:
- labs
- symptoms
- low Hb
- high retics
- abdominal pain and distention
- shock
- usually kiddos under
Blood smear findings assc with SCA
- Howell jolly bodies
- sickled cells
- target cells
5 Preventative measures in SCA
- hydroxyurea to increase HbF
- penicillin px
- folic acid
- immunization (esp flu, pneumo)
- serial transcranial DUS
Bone complication aside from osteo in sickle cell anemia
avascular necrosis of the femoral head
Three nonmalignant RED cell aplasias (not pancytopenia
- transient erythroblastopenia of childhood (TEC)
- congenital hypolpastic anemia (Diamond Blackfan)
- parvovirus B19
CHA? Diamond Blackfan:
- inheritance pattern
- lab value that is increased
- physical exam findings (3)
- two other involved organ systems
- AD/AR
- high HbF
- short, triphalangeal thumbs, craniofacial changes
- renal, cardiac changes
Possible cause of transient erythroblastopenia of childhood + prognosis
-viral infection –> spontaneously resolves, requires no treatment
Findings assc with parvovirus B19 aside from RBC aplasia? Another name?
- slapped cheeks
- lacy rash
- fifths disease
Congenital cause of pancytopenia +inheritance pattern
-fanconi anemia, AR
Skeletal +renal abnormalities assc with Fanconis
- absence/ hypoplasia of thumb + radius
- type 2/ proximal RTA (inability to reabsorb bicarb)
**also see skin pigmentation
Drugs causing acquired aplastic anemia
- anticonvulsants
- chloramphenicol
- sulfas
Infections causing acquired aplastic anemia
- HIV
- EBV
- CMV
Two types of polycythemia:
- primary (poly vera, malignant)
- secondary (increased EPO)
Cause of appropriate polycythemia:
- hypoxemia
- pulm disease
EPO/ inappropriate poly can be cause by malignancy of which organs?
- cerebellum/ kidney
- ovary
- adrenal
- liver
(C/KOAL)
Appearance assc with polycythemia + 2 complications:
- ruddy complexion
- thrombosis
- bleeding
Cause of relative polycythemia
-dehydration most commonly
Three factors assc with hemostasis
- vessels
- platelets
- clotting factors
Hemophilia A and vWF are both considered _____.
What are their inheritance patterns?
Which is most common?
Factor VIII disorders
A: X linked; vWF: AD
vWF = MC bleeding disorder
Contrast lab findings in Hemophilia A/ vWF Disease
- both have prolonged PTT, normal PT
- only vWF has prolonged bleeding time
- both have normal platelet count
Which two bleeding disorders are assc with hemarthroses?
- Factor VIII/ Hemophilia A
- Vitamin K deficiency
Order of intrinsic pathway clotting
-12,11,9,8,10
Order of extrinsic pathway clotting
7,10
Order of common pathway clotting
10,2 (thrombin),1 (fibrin)
Factor required for making fibrin polymer
XIII
What are the three types of vWF disease?
Which is most common?
type 1: classic, quantitative***
type 2: qualitative
type 3: absence
Test for vWF activity?
Treatment?
ristocetin cofactor
DDAVP + cryo
Hemophilia B:
- aka
- cause
- inheritance
- Christmas disease
- factor IX deficiency
- X linked
Three acquired clotting factor disorders
- vitamin K def
- liver disease
- DIC
Three congenital clotting factor disorders
- Hemo A/ VIII
- Hemo B/ IX
- vWF (most common)
Clotting factors that require vitamin K
-2,7,9,10, C, S
PT, PTT both affected by vit K deficiency
Meds that classically depletes vitamin K
warfarin
Signs of vitamin K def in newborn
- bleeding from circumcision + umbilical stump
- hematemesis
Hematologic findings in liver disease/DIC
- ^^ PT,PTT
- ^^fibrin degradation products
- thrombocytopenia
Findings specific to DIC:
-helmet cells
-fragmented RBCs
(not seen in liver disease)
Thrombocytopenia findings
- increased bleeding time
- low platelets
- petechiae
Which of the platelet disorders are assc with petechiae?
- DIC, liver, vit K, thrombocytopenia
- not vWF/ hemophilias
Which of the platelet disorders have normal bleeding times?
-all prolonged except
Heme A, vitamin K= normal
Kasabach-Merritt Syndrome:
describe
Large hemangioma –> DIC
Five Vessel abnormalities that present with bleeding:
- HSP
- HHT
- Scurvy
- Collagen D/O (i.e. ED)
- Malnutrition/steroids
Hereditary Hemorrhagic Telangiectasia
Inheritance pattern
AD
Most common cause of bleeding
thrombocytopenia
Two congenital disorders causing low platelets
- Wiskott Aldrich
- TAR
Wiskott Aldrich:
inheritance pattern
3 findings
- X linked
- thrombocytopenia
- low B/T cell immunity
- eczema
TAR syndrome:
- inheritance pattern
- 4 findings
- thrombocytopenia
- absent radius
- cardiac disease
- renal disease
Two diseases causing increased platelet destruction
- ITP
- Neonatal Immune mediated thrombocytopenia
Immune thrombocytopenic purpura:
- when does it most commonly occur?
- prognosis?
- 1-4 weeks after a viral infection
- 70-80% resolve spontaneously w/in months
- 10-20% become chronic (6+ mos), more commonly in ages 10+
Smear finding in ITP
few large sticky platelets
Two types of neonatal immune thrombo
- passive (mother has low platelets)
- isoimmune (mother has normal platelets)
Two “syndromes” assc with low platelets
- Kasabach Merritt
- HUS
Three misc causes of low platelets
- DIC
- large spleen
- drugs
Two drugs that interfere with platelet function
- aspirin
- valproate
Two systemic diseases that impair platelet function
- liver disease
- uremia
Two congenital disorders effecting platelet function + their inheritance pattern
-Glanzmann
-Bernard Soulier
both AR
Defect in Glanzman/ Bernard Soulier
- Glanzmann: lack of IIb/IIIa, = no aggregation
- BS: lack of membrane glycoprotein= no adhesion
Most common childhood platelet disorder
ITP
Four factors most commonly altered in hypercoagulable disorders
- protein C
- protein S
- factor V
- antithrombin III
Presentations for homozygotes lacking Protein C
-purpura fulminans early in life (rapidly spreading bleeding)
Neutropenia predisposes to what infections?
- moderate: mucus membrane/ skin infection
- severe: sepsis, gram neg or s. aureus
What is considered severe neutropenia?
ANC less than 500 cells/mm^3
Most common cause neutropenia in childhood
infection
Chronic benign neutropenia of childhood:
age group
prognosis
key distinguishing feature of disease
- less than 4
- resolves spontaneously within months –> years
- neutropenia is NONCYCLICAL
Kostmann syndrome:
- aka
- inheritance pattern
- severe congenital agranulocytosis
- AR
Cyclical neutropenia:
- inheritance pattern
- features during neutropenic episode
- AD
- Fever, ulcers, stomatitis
Three genetic “syndromes” assc with neutropenia + inheritance pattern
- Chediak Higashi
- Cartilage hair hypoplasia syndrome
- Schwachmann Diamond
- both are AR
Chediak Higashi
- PE findings
- Smear findings
- albinish
- blue granules in neutrophil cytoplasm + neutropenia
Four features of Cartilage hair hypoplasia syndrome
- immunodeficiency
- thin hair
- short stature
- neutropenia
Schwachman Diamond Syndrome:
-4 features
- exocrine pancreatic insufficiency
- short stature
- neutropenia
- metaphyseal chrondrodysplasia
Five causes of increased neutrophil destruction
1) infection
2) drugs
3) hypersplenism
4) autoimmune neutropenia
5) isoimmune neutroplenia
