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Hemetology 201
68k-01 heme 201
83
Medical
Not Applicable
01/31/2012

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Term
Iron deficiency anemia
Definition

develops from inadequate levels of iron

usually occurs in:

infancy

pregnancy

women in childbearing years

chronic blood loss

Term
causes of iron deficiency anemia
Definition

inadequate intake of iron: develops as rbcs are slowly deprived of iron

rbcs become unable to produce Hgb

 

increased iron need: pregnancy, infancy, childhood

chronic loss of Hgb: occurs with slow hemorrhage or hemolysis

- gastrointestinal bleeding from ulcers

-heavy menstrual bleeding

-kidney stones or tumors

- hook worms

Term
screening for iron deficiency anemia
Definition

CBC- microcytic, hypochromic anemia, low: rbc ct, Hgb, Hct, MCV, MCH, MCHC

Rbc morphology- target cells/ elliptocytes

Term
Sideroblastic Anemia
Definition

iron overload conditions

body has adequate amount but unable to incorporate it into heme synthesis

accumulation leads to prescence of iron depositws arond the nucleus of normoblasts

prussian blue stain of bone marrow will show ringed sideroblasts

Term
Causes of sideroblastic anemia
Definition

hereditary sideroblastic anemia: sex-linked reccesive trait, seen mostly in men

secondary sideroblastic anemia: typically caused by toxins or drugs; lead poisining

idiopathic acquired sideroblastic anemia: cause unknown

Term
Rbc morphology for sideroblastic anemia
Definition

dimorphic: microcytes and some normal cells; hypochromic and some normochromic cells

anisopoikilocytosis

target cells

pappenheimer bodies

Basophilic stippling

 

Term
Hemochromatosis
Definition

excess accumulation of iron

iron excess is toxic to the liver

maybe acquired or hereditary

Term
Hereditary Hemochromatosis
Definition

result of mutations that affect proteins directly related to iron metabolism

may lead to iron overload

Term
transfusion-related hemochromatosis (acquired)
Definition

patient develops excess iron due to repeated transfusion of rbcs

iron in the donor rbcs overloads the patients liver

Term
laboratory diagnosis for hemachromatosis
Definition

elevated transferrin saturation: Common screening test

elevated liver function test

elevated serum ferritin: assesses degree of iron overload

Term
Folate Deficiency
Definition

directly affects DNA synthesis

results in anemia when ineffective heamtopoiesis develops and developing cells die within the bone marrow

Term
B12 deficiency
Definition

indirectly affects DNA synthess

takes years to manifest as anemia

Term
What is hemoglobinapthy
Definition

anemias characterized by a structural defect in the Hgb

caused by a.a. substitutions in the polypeptide chains

Term
Classifications of hemoglobinopathies
Definition

amindo acid substitution in the polypeptide chain:

Hgb S: sickle cell anemia and sickle cell trait

Hgb C

Hgb SC

Hgb E

impaired production of the globin chain

beta thalassemia

alpha thalassemia

Term
Hgb S testing
Definition

sickledex tube test

solubility method for Sickle Cell Screening

Hemoglobin Electrophoresis

Term
Sickle Cell Anemia
Definition

a serouos inhereited disease in which the body makes HGb S

an abnormal hgb caused by a substitution of one a.a. in the beta chain

red cells possessing hgb S as the majority of hgb become sicked in areas of low oxygen concentration

Term
genetic characteristics of sickle cell anemia
Definition

sickle shaped cells dont move easily through your blood vessels

blocked blood vessels can cause pain serious infection and organ damage

Term
causes of sickle cell anemia
Definition

inherited disease: person ineherits two copies of the sicke cell gene-  one from each parent

causes the body to make abnormal hgb

person who inherits only one copy of the sickle cell gene has sickle trait

Term
Sickle cell trait
Definition
heterozygous  (Hb S and Hb A)
Term
CLinical features Sickle cell Anemia
Definition

chroic hemolytc anemia

vaso-occlusion episodes and complications

infectious crises primary cause of death

Term
clinical sickle cell trait anemia
Definition

asymptomatic inder normal conditions

sickling can be caused by:

acidosis

extreme hypoxic conditions

sever respiratory infection

unpressurized flight conditions

under anesthesia in which pH and oxygen levels are greatly reduced

Term

Lab findings for sickle cell anemia/ trait

rbc morphology:

Definition

 anemia- few to moderated slc, few target cells, hjb, nrbcs, polychromasia, retics

trait- normal cbc, no slc in peripheral smear unless in sickle crisis

 

Term

lab findings in slc anemia/ trait:

Hb electrophoresis in alkaline pH

Definition

anemia: no Hb A 80% or more Hb S

1-20% hgb f

trait 60% hb a

40%hb s

Term
etiology of Hgb C
Definition

a.a. substitution of lysine for glutamic acid in the 6th position in te beta chain

homozygous: disease

heterozygous: trait

Term

lab findings hgb c anemia/ trait:

rbc morphology

Definition

anemia

50-90% target cells

spherocytes maybe present

polychromasia

increased retic count

may see hgb c crystals

 

trait: clinically asymptomatic

Term
etiology of hgb sc
Definition

caused by two abnormal betac chains hgb s and c

high incidence in the black race

clinical symptoms lke sickle cell anemia but less severe

Term

Lab findings of hgb sc:

rbc morphology

Definition

high number of target cells

few sickled and folded cells

may have hgb c crystals: looks like the washington monument  "bar of gold"

Term

lab findings hgb sc:

hb electrophoresis in alkaline pH

Definition

50% hgb s

50% hgb c

Term
etiology of hgb e
Definition

results from a.a. substitution of lusie for glutamic acid at the 26th position

seen in ppl from southeast asia

secod most hgb variant world-wide

Term

lab findings hgb e:

rbc morphology

Definition

anemia: microcytes and target cells

triat: microcytic cells few target cells

Term

lab finding hgb e:

electrophoresis

Definition

95-97% hgb e

3-5% hgb f

Term
what is thalassemia
Definition

defective globin synthesis results in:

defective hgb production

damage to rbcs

 

inherited disorders caused by genetic alterations: reduce or disable the ability to synthesize one or more of the globin chains of the hgb tetramer

Term
categories of thalessemia
Definition

beta thalassemia

alpha thalassemia

 

 

Term
etiology of beta thalassemia
Definition

caused by defect in the rate of beta chain synthesis: beta cains maybe completely absent or reduced in number

alpha chains are synthesized in normal amounts

excess alpha chains precipitate and induce hemolysis

 

Term
beta thalasemmia major
Definition

homozygous state and more severe

also known as cooley's disease

Term
beta thalassemia minor
Definition

heterozygous state

also known as cooley's trait

Term
beta thalassemia major physical symptoms
Definition

severe anemia:

detected btwn 6mths and 2 yrs, as the gamma chain to beta chain switch takes place

hepatomegaly and splenomegaly

retarded growth and mongoloid facial features

Term
beta thalassemia major retic count and rbc morph
Definition

increased retic count

severe microcytic, hypochromic abnormally shaped rbcs, many target cells, high number of nrbcs, marked polychromasia, basophillic stippling, hjb, pappenheimer bodies

Term
beta thalassemia minor physical symptoms
Definition

mild anemia

slight splenomegaly

Term
beta thalassemia minor retic count and rbc morph
Definition

increased retic count

microcytic, hypochromic abnormally shaped rbcs, few target cells, polychromasia

Term
alpha thalassemia etiology
Definition

genetic abnormality in which there are large deletions in alpha globin genes

degree of severity varies in proportion to the number of genes affected

two different types: hgb h disease, barts hydrops fetalis

Term
hemoglobin h disease
Definition

charaterized by the presence of only one gene producing alpha chains

typically diagnosed when an individual experiences a hemolytic crises, otherwise those with the disease lead normal lives

Term
barts hydrops fetalis
Definition

characterized by the absence or deletion of all alpha chain synthesis (INCOMPATIBLE WITH LIFE)

hemogloblin Bart predominant hgb

has a high oxygen affinity

cannot transport oxygen to the tissues

severe anemia results and usually leads to stillbirth or spontaneous abortion

Term
genetics of alpha thalassemia
Definition

offspring that inherits the double deletion from one parent and the single from the other will have hgb h disease

 

the offspring who inherits no alpha genes from the parents dies in utero due to the development of hydrops fatalis

Term
cbc findings for alpha thalassemia
Definition

microcytic, hypochromic anemia

decreased hgb and hct

elevated rdw ( untreated thalassemia major)

normal rdw ( thalassemia minor)

very low mcv

Term
hb electrophoresis in alalkine pH for alpha thalassemia
Definition

increased HgbA2 (3.5-8%)- diagnostic

increased HgbF (1-5%) in 50% of patients

Term
how inadequate intake affects folate deficiency
Definition

develops as a result of poor diet

good sources include green leafy vegetables, dried beans, liver, beef, and oranges

Term
inadequate intakes affects on vitamin b12 deficiency
Definition

develops as result of a vitamin b12 deficient diet

good sources obtained from liver, milk, and eggs

Term
causes of folate dificiency and vitamin b12
Definition

increased need

impaired absorption

excessive loss/ use

Term

lab findings for megablastic anemia:

cbc

Definition

decreased wbc, rbc, and plts

decreased hgb and hct

increased mch, mcv, and rdw

normal mchc

low absolute retic ct

Term

lab findings for megablastic anemia:

rbc morphology

Definition

oval macrocytes, slight tear drops, moderate to marked anisocytosis/poikilocytosis,

rbc inclusions: basophillic stippling, cabot rings, hjb

Term

lab findings of megablastic anemia:

neutrophil lobe counts

Definition

hyper-segmented neutrophils

five 5 lobed 1 6lobed neutrophil per 100 wbc

Term

lab findings for megablastic anemia:

blood serum

Definition
elevated bilirubin and lactate dehydrogenase
Term
id anemias due to increased rbc destruction that are a result of non-immune causes
Definition

aplastic anemia: codition in which the body stops producing bew blood cells (rbcs, wbcs, and plts)

red cell aplasia:rare disorder marked by a severe decrease in rbc precursors in otherwise normal bone marrow

 

Term
define hemolytic anemia
Definition
group of anemias characterized by increased destruction of rbcs
Term
Identify the 3 main categories of hemolytic anemias
Definition

hereditary spherocytosis: deffect in rbc membrane protein ( spectrin) composition; most commonly reported hereditary hemolytic anemia

hereditary elliptocytosis: caused by defective cytoskeleton in rbc membrane: around 90% have no symptoms

hereditary stomatocytosis: deficiency in rbc protein stomatin

Term
identify the hereditary enzyme defect anemias
Definition

G6PD deficiency: individuals lack the G6PD enzyme

Pyruvate Kinase Deficiency: rare enzyme disorder of the Embden-Meyerhoff pathway

 

Term
G6PD defiency characteristics
Definition

genetic sex-linked disorder: gene for g6pd is located on the x chromosome

harmless unless rbcs are exposed to oxidative stress

most common rbc enzyme disorder: gen. seen in blacks

 

Term
lab findings associated with G6PD
Definition

normochromic/normocytic anemia

increased retics

rbc morph: basophillic stippling, heinz bodies, bite cells, polychromasia

hemoglobinuria: urine turns black or brown

 

Term
characteristics of pyruvate kinase deficency
Definition

causes reduced atp production: rbcs have a decreased lifes span due to lack of atp

 

Term
lab findings associated with pyruvate kinase deficiency
Definition

increased retics

marked polychromasia, few nrbcs

Term
id the various immune and non-immune hemolytic anemias
Definition

drug-induced hemolytic anemia

paroxysmal nocturnal hemo-globinuria: rare, chronic, acquired, hemolytic anemia

acquired non-immune hemolytic anemia

 

Term
characteristics of drug- induced hemolytic anemia
Definition

can be caused by drugs that lead to: immune complex formation; autoimmunity, drug absorption into rbc, membrane modification

results in lysis of rbcs

termination of drug is preferred treatment

Term
lab findings for drug-induced hemolytic anemia
Definition
spherocytosis, positive direct anti-globulin test (DAT)
Term
characteristics of paroxysmal nocturnal heme-globinuria (PNH)
Definition

rare, chronic, acquried, hemolytic disease

abnormal rbc membrane becomes highly susceptible to hemolytic action of complement

clasically, red cells destroyed while patient sleeps

results in chronic anemia

Term
lab findings of PNH
Definition

normocytic/ normochromic anemia

hematuria (blood in urine)

leukopenia and thrombocytopenia

slight marocytosis and polychromasia reticulocytosis

Term
Etiology of AIHA
Definition

warm agglutinin syndrome: involves antibodies whose serological activity is optimal at 37C

very rare

cold agglutinin syndrome: rare disorder caused by an IgM antibody in which rbcs hemolyze at cold temps 10-30C; primary CAS onset by cold environments

secondary CAS onset following infections

Paroyxsmal Cold

Term

non-immune hemolytic anemia:

infectious organisms

characteristics

Definition

malaria: parasites

babesia: transmitted by deer mice

clostridium perfingens: sepsis leads to destruction of RBCs  and lysis

Term
non-immune hemolytic anemias
Definition

cardiac replacement valve: anemia caused by rbc injury and fragmentation

hemolytic uremic syndrome: usually in infants and children

burns: thermal injuries cause rbc fragmentation and membrane loss leading to hemolytic anemia; schistocytes often seen in peripheral smear

Term
define anemia
Definition
red blood cells, hemoglobin, and hematocrit below established normal values
Term
clinical signs and syptoms of anemia
Definition

fatigue

skin pallor, jaundice and petechiae

headaches and low blood pressure

tachycardia

Term
identify causative factors of anemias
Definition

acute or chronic blood loss

decreased or impaired rbc production

increased rbc destruction or loss

Term
characteristics of normocytic, microcytic, and macrocytic anemias
Definition
mcv and mchc values
Term
identify lab test used in the diagnosis of anemia
Definition

cbc/ rbc indices: rbc ct, hgb, hct, rbc indices, wbc, and plt ct

red cell distribution width (Rdw): indicates the degree of anisocytosis

retic ct: indicates shortened rbc survival

blood smear: serves as q.c.

exams of bone marrow smear: performed when the cause cant be determined or the differential diagnosis remains broad

osmotic fragility test: measures the ability of the rbcs to take up fluid without lysing

sugar water screening test/ hams test: PNH

Sickle Cell testing and hgb electrophoresis

Term
clinical symptoms associated with anemia and blood loss
Definition

acute blood loss: normocytic/normochromic anemia; fluid from the extravascular spaces enters the blood circulation dilutes remaining cells and produces subsequent anemia

chronic blood loss: beigns normocytic/normochromic develops into microcytic/hypochromic anemia

 

Term
lab findings sideroblastic anemia
Definition

rbc values- decreased hct and retics; increased rdw

iron studies- increased serum iron; decreased tbic

Term
iron studies for iron deficiency anemia
Definition

decreased serum iron

increased tbic

decreased serum ferritin

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