Heme Flashcards
What kind of anemia is iron deficiency anemia?
hypochromic, microcytic anemia
elevated RDW
high total iron binding capacity
When is iron deficiency anemia screened for?
universal screening at 1yo
What is the treatment for iron deficiency anemia?
ferrous sulfate (3-6mg/kg/day) for 2 months
When is packed blood transfusion the treatment for iron deficiency anemia?
if there are signs of heart failure
What is the most common cause of anemia in young infants between 6 and 9 weeks of age?
physiologic anemia
decrease in erythropoiesis d/t increase tissue oxygenation
What is fanconi anemia?
an autosomal recessive pattern
hematologic abnormalities are noted around 7yo
How do pts with fanconi anemia present?
pancytopenia (thrombocytopenia normally comes first) (platelets, WBC, RBC)
cafe-au-lait spots
short stature
upper limb abnormalities
deafness
What is the dx for fanconi anemia?
bone marrow - patchy hypoplasia
chromosomal breakage analysis – increased DNA breakage when exposed to mytomycin C and diepoxybutane (DNA crosslinking agents)
What is the tx for fanconi anemia?
transfusion and ABX for infections
stem cell transplantation
Dyskeratosis congenita
mutations in genes in telomere function
How do pts with dyskeratosis congenita present?
Classic mucocutaneous traid:
- luekoplakia
- hypo/hyperpigmentation
- nail dystrophy
early graying hair
lung and liver fibrosis, as well as cancer
How is dyskeratosis congenita dx?
telomere length testing - will be very short for age
Diamond -Blackfan anemia
autosomal dominant inheritance
mutations in ribosomal subunits
How do pts with diamond - blackfan anemia present?
typically in the first 3 months of life macrocytic anemia poor feeding deafness short stature craniofacial abnormalities
How is diamond blackfan anemia dx?
macrocytic anemia
RBC with markedly increased adenosine deaminase activity
What is the treatment for daimond blackfan anemia
corticosteroids
stem cell transplant may be curative
What is spherocytosis?
congenital hemolytic anemia (cause of neonatal jaundice in the first 24 hours of life)
autosomal dominant inheritance
mutations that affect RBC membrane (spectrin and ankyrin)
How do pts with spherocytosis present?
acute aplastic event (parvovirus B19)
jaundice
splenomegaly
early gallstones
How is spherocytosis dx?
osmotic fragility test
What is the tx for spherocytosis?
symptomatic
folic acid
splenectomy
What is sickle cell anemia?
a autosomal RECESSIVe disorder
single point mutation (Glutamic acid to valine) on the beta chain
upon deoxygenation HbS polyermizes within RBC causing sickle shape
How is sickle cell dz dx?
in the US, universal newborn screen
How do pts with sickle cell dz present?
functionally aslpenic (HOWELL JOLLY BODIES) develops as early as 3-6 months pneumococcal infections
Osteomyelitis is most commonly cause by what pathogen? How does this differ in pts with sickle cell anemia?
normally: staph aureus
SCD: SALMONELLA
What is the treatment for SCD?
sepsis prevention: PCN prophylaxis started by 3 months of age
immunizations
Fevers >38.5 = medical emergencies
RBC transfusion for acute splenic sequestration
hydroxyurea - reduces hemolysis and increases levels of fetal Hgb
stem cell transplantation could cure SCD
What is the difference between alpha thalassemia trait and disease?
Trait is 2 gene deletion
Disease is 3 gene deletion
normal trait = 4 alpha globin genes and 2 beta globin genes
What kind of labs will you see with alpha thalassemia?
microcytosis
hypochromic anemia
HEINZ bodies
Howell Jolly Bodies
What is the difference between beta thalassemia major and trait?
point mutations
major: most severe (homozygous)
trait: least severe (heterozygous)
How do pts with beta thalassemias present?
major:
frontal bossing
hypersplenism
trait:
asymptomatic
mild microcytosis noted on CBC
How do you dx beta thalassemias?
major: at birth only HbF
later HbF and HbA2
no Bs ever
What is the treatment for beta thalassemia major?
lifelong blood transfusions –> goal is hypertransfusion to shut off erythropoeisis
G6PD deficiency
X-linked recessive disorder
incomplete protection against oxidative states
What is the MC human genetic mutation?
G6PD deficiency
How do pts with G6PD deficiency present?
acute hemolytic anemia after exposure to oxidative stress –> fava beans, sulfa drugs, infections
acute fatigue, jaundice, pallor, dark urine
What kind of labs would you expect to see with someone who has G6PD deficiency?
normocytic, normocromic anemia, reticulocytosis
BLISTER CELLS
elevated LDH, bilirubin
Basophilic stippling
lead poisoning
microcytic, hypochromic anemia
What is the treatment for lead poisoning?
dimercaprol followed by edetate calcium disodium
oral succimer is an alternative
What is the most common hereditary bleeding disorder?
von Willebrand disease
autosomal dominant
What is von Willebrand disease?
a protein deficiency that is needed for platelet adhesion
How do pts with von Willebrand disease present?
easy bruising
platelet type bleeding: dental and nasal bleeding, menorrhagia
How is von Willebrand disease dx?
PTT is normal or may be increased
VWF antigen assay - increased bleeding time
What is the treatment for von Willebrand disease?
desmopressin (causes release of VWF from cells)
Idiopathic thrombocytopenia purpura
acquired autoimmune disorder that results in platelet destruction –> autoantibodies directed against platelets
often follows viral illness
MC in children than adults
How does ITP present?
thrombocytopenia in the absence of other bone marrow pathology
petechiae, purpura, gingival bleeding
menorrhagia, GI bleeding, intracranial hemorrhage
What is the tx for ITP?
corticosteroids and/or IVIG
start tx if platelet count is <10,000
or if it is <20,000 + mucosal bleeding
ALL (what is it and who gets it?)
acute lymphocytic leukemia
affected cell progeny fail to differentiate but continue to proliferate (definition of leukemia?)
early LYMPHOID precursors overtake the bone marrow
MC form of cancer in childhood (peak 2-5yo)
M>F
How do pts with ALL present?
hepatosplenomegaly
LAD
bone pain
How is ALL dx?
Philadelphia chromosome
panyctopenia
hypercellular marrow
What is the tx for ALL?
chemotherapy induction
bone marrow transplant
AML (what is it and who gets it?)
Acute myeloid leukemia
affect cell progeny fail to differentiate, but continue to proliferate
early MYELOID precursors overtake the bone marrow
80% of leukemias in adults
M >F
How do pts with AML present?
splenomegaly
gingival hyperplasia
How is AML dx?
AUER RODS on peripheral blood smear
pancytopenia
hyerpcellular marrow
What is the tx for AML?
more intensive and toxic than ALL tx
chemo + BMT after remission
What is the difference between hodgkin and non-hodgkin lymphoma?
hodgkin: lymphocyte neoplasm - B cell —associated with EBV
non-hodgkin: lymphocyte neoplasm - B, T, follicular
Who gets hodgkins lymphoma?
bimodal peaks
15-19 and 50yo
M»_space;F
Who gets non-hogkin lymphoma?
> 50yo
How do pts with hodgkins lymphoma present?
painless LAD of upper central body
EtOH may induce LN pain
How is hodgkins lymphoma dx?
Reed-Sternberg cells (Owl’s eyes) on biopsy
CXR - mediastinal mass
What is the treatment for hodgkins lymphoma?
radiation therapy if local
chemo if advanced
How do pts with non-hodgkins lymphoma present?
PERIPHERAL painless LAD
Burkitt Lymphoma is a type of non-hodgkins –> starry sky appearance
What is the treatment for hemophillias?
replacement of the missing factor concentrate
Hemophilia A = 8
Hemophilia B = 9
X-linked recessive (although 30% are new mutations)
DDAVP/stimulate
