263 terms



Terms in this set (...)

inherited; acquired
Aplastic anemia can be _____ or _____.
denatured hemoglobin; supervital.
Heinz bodies are _____ seen using ______ stain.
Hereditary Pyropoikilocytosis (HPP)
Rare recessive disorder of RBC membrane marked by thermal instability
Hereditary spherocytosis
What normochromic, normocytic AD anemia has splenomegaly and increased osmotic fragility?
microytic, dense, perfectly round or spherical
Clinical Presentations in HS
anemia, jaundice, splenomegaly
Normal RBCs lyse at
.45% NaCl
Treatment for moderate to severe HS
Hereditary Elliptocytosis
Defects that affect the interaction within the spectrin tetramer, affecting horizontal interactions of the cytoskeleton
4 Subtypes of Hereditary elliptocytosis
Common HE, Southeast Asian Ovalocytosis, Spherocytic HE, Hereditary Pyropoikilocytosis
Southeast Asian Ovalocytes
RBCs are strongly heat resistant and rigid. May protect against Malaria.
RBCs in Southeast Asian Ovalocytes appear
Spoon-shaped with two bars across center.
Hereditary Pyropoikilocytosis (HPP) Lab results
Extremely low Hgb ( <6.5 g/dL) & MCV ( 50-75 fL)
Hereditary Pyropoikilocytosis (HPP) Red Cell Morphology
microspherocytes, fragments, red cell budding
Most common human enzyme deficiency
G6PD Deficiency
G6PD enzyme usually found in
the Hexose Monophosphate shunt of the Embden-Meyerhoff pathways
G6PD lab results
Heinz Bodies
PK Deficiency (Pyruvate Kinase)
unable to generate ATP from ADP resulting in rigid cells that are hemolyzed by the spleen
PK treatment (Pyruvate Kinase)
aplastic anemia
a normocytic-normochromic type of anemia characterized by the failure of bone marrow to produce red blood cells
Causes of Acquired Aplastic Anemia
#1 is ideopathic. Also from drugs, Radiation, Viruses
Faconi's Anemia & Dyskeratosis Congenita
Two inherited diseases of Aplastic Anemia
Treatment for aplastic anemia
tranfusions and steroids
Aplastic Anemia lab results
Paroxysmal Nocturnal Heomglobinuria
hemolytic anemia caused by absence of red cell proteins making them sensitive to compliment
Symptoms of PNH
bloody urine in the morning
Fanconi's Anemia
rare recessive disorder affecting bone marrow development
PNH Screening Test
Sugar Water Test
Fanconi's Anemia usually leads to
infection (no WBCs) or Hemmorhage (no platelets)
PNH Confirmatory Test
Ham's Test ( aka Acidified Serum Test)
Globin chain disorder of the hemoglobin molecule.
Red Cell morphology
normo/normo, Target Cells
Sickle gene seen predominantly in
African populations
Beta Chain
Most hemoglobinopathies are _____ _____ abnormality.
Sickle Cell Disease protects against
Plasmodium falciparum (Malaria)
Sickle Cell Diease (homozygous)
Sickle Cell Diease (heterozygous)
Hemoglobin that resists sickling
Hemoglobin F
Symptoms of Sickle Cell Disase
Low Hgb (6-8 g/dL), Painful Crisis, Weak
Valine ; glutamic
If person inherits sickle gene, then ____ is substituted for ____ in the 6th position of the Beta Chain.
Shift to the Left
More immature cells (seen in Sickle Cell Dis.)
Lab Findings of Sickle Cell Disease
increase WBCS, Platelets, & Retics
Tube Solubility Test
Indicates sickling hemoglobin
Hemoglobin Electrophoresis
seperates different hemoglobin by electrical charge
Sickle Cell Disease Treatment
rehydration, pain relief, transfusion, penicillin, hydroxyurea ( produces Hgb. F which resists sickling)
Cellulose; citrate
Always run _____agar first, followed by _____ agar if needed for further seperation.
Sickle Cell Trait
asymptomatic except occasional episodes (ex: flying)
Hemoglobin C
Substitution of Lysine for Glutamic Acid on Beta Chain.
Sickle Cell Disease has no Hgb. _____ b/c no normal Beta chains
Result from inheriting two abnormal hemoglobins, S & C
The "transport protein" that moves iron to the bone marrow
Inhibitors of Fe absorption
tea, coffee, milk
Hereditary Hemochromatosis
Major inherited sideroblastic anemia
unknown cause
Idipathic, acquired aplastic anemia is due to an
Fatigue, infection, and bleeding
the clinical consequences of panctopenia include
Inadequate production of erthropoietin
The pathophysiology of anemia of chronic renal disease is manily due to
premature death of stem cells
mutation in genes that code for the telomerase complex may induce bone marrow failure by
hemolytic disorder
increased destruction of RBCs after entering bloodstream
RBC destruction that occur when macrophages ingest and destroy RBC is termed
reticulocyte count
which of the following is a good indication of accelerated erythropoiesis
Yellow skin and eyes
Which of the following syptoms would point to a hemolytic cause of anemia
spherocytes on the peripheral smear
Which of the folowing would be inconsistent with a diagnosis of intravascular hemolysis
increased MCHC
An outstanding abnormality of hereditary spherocytosis noted in the CBC is
Pure red cell aplasias
only red cells are affected
Dyskeratosis Congenita and Fanconi Anemia
two inherited diseases of inherited aplastic disease
Fanconi Anemia
short stature, low birth weight, abnormal eyes kidneys genitals
Fanconi lab results
DNA linking agents cause a characteristic breaking in the chromosomes of Fanconi anemia cells - diagnostic test, macrocytic RBC 1st then thrombocytopenia
Dyskeratosis Congenita clinical findings
Mucocutaneous abnormalities, bone marrow failure, and pancytopenia and Abnormal skin pigmentation, dystrophic nails, and oral leukoplakia
Dyskeratosis Congenita
15-25% experience developmental delay, short stature, prematurely gray hair and hair loss, extensive dental caries, or pulmonary disease
Pure red cell aplasias
Form in children is also known as transient erythroblastopenia of childhood
_______ is known as hereditery erythroblastic multinuclearity with positive acidified serum (HEMPAS)
Myelophthisic Anemia
Dacryocytes and nucleated RBCs, Immature WBCs, Megakaryocyte fragments, Giant platelets
within the bloodstream
excretory product for protoporphyrin
bilirubin metablism
Porphyrin → biliverdin → bilirubin
- binds Hb and prevents its excretion by the kidneys
Hb not bound by haptoglobin is oxidized to methemoglobin
ferritin ; hemosiderin
Iron may also be stored in the kidneys as _________ or ____________.
Extravascular hemolysis you see ___________
Intravascular hemolysis you see_____________.
Hereditary Spherocytosis
Incidence is highest in Northern Europeans
Hereditary Spherocytosis Aplastic crisis
Parvovirus B19 (fifth disease) may invade hematopoietic stem cells an inhibits their growth causing bone marrow function to decrease
Southeast Asian Ovalocytosis aka Stomatocytic HE
Common only in Melanesian and Malaysian populations, Elliptocytes are rounded
Hereditary Pyropoikilocytosis (HPP)
Mostly seen in blacks, Marked thermal sensitivity, Elliptocytes, RBC fragments, budding RBCs, spherocytes, triangular, and other bizzare shapes on smear
Hereditary Pyropoikilocytosis (HPP)Clinical symptoms
Growth retardation, Gall bladder disease, Severe facial abnormalities
Acquired Stomatocytosis
May see in marathon runners after a race, Associated with acute alcoholism and drug therapy
G6PD Deficiency Favism
Results when exposed to fava bean (broad bean) ingestion or exposed to pollen
Pyruvate Kinase Deficiency
Most common in people of Northern European ancestry, High prevalence in Amish country - Mifflin County, PA
Paroxysmal Nocturnal Hemoglobinuria
Intravascular hemolysis due to a RBC membrane defect that decreases its susceptibility to complement Acquired abnormality (History of idiopathic or drug-induced aplastic anemia)
PNH Clinical Laboratory Findings
Hemoglobinemia is sleep induced, red urine after sleeping, Leads to renal insuffiency (kidney damage)
What triggers Thrombotic Thrombocytopenic Purpura
Bacterial and viral infections, Immunological diseases, Pregnancy, May be hereditary
Hemolytic-Uremic Syndrome
See after gram-negative infection, preeclampsia or eclampsia, in the postpartum period, or after ingestion of oral contraceptives
Macrovascular Hemolytic Anemia
Traumatic Cardiac Hemolytic Anemia and March Hemoglobinuria
March Hemoglobinuria
Hemoglobinuria and hemoglobinemia results from forceful repeated impact of the feet and other parts of the body on a hard surface during strenuous exercise
Cold Agglutinin Disease
Mediated by IgM antibodies work best at 20-30 degrees C, IgM autoantibody binds complement while patient is in cold environment
Alloimmune Hemolytic Anemias
Rh Blood Group System and Hemolytic Disease of the Newborn, Mother produces antibody to fetal antigen she lacks, Disease of the fetus
Megaloblastic Anemia
Cause is impaired DNA synthesis, Very large cells in bone marrow, Common causes are vitamin B12 or folate deficiency
Clinical Findings of Megaloblastic Anemia
RBC die in bone marrow, Pancytopenia,Fatigue, weakness, and shortness of breath, Loss of epithelium on tongue(Smooth surface and glossitis), Loss of epithelium in GI tract(Gastritis, nausea, or constipation)
Causes of Folate Deficiency
Dietary (Inadequate intake, Increased need, Impaired absorption), Impaired use, Excessive loss
Dietary Folate Deficiency Inadequate intake
General poor diet
are essential for the formation of thymidine, one of the nucleotides found in DNA
Vitamin B12 and Folate
A deficiency in either one impairs thymidine synthesis, in turn impairing DNA synthesis
Symptoms of Vitamin B12 Deficiency
Neurological symptoms (Memory loss, numbness and tingling in fingers and toes, loss of balance, impairment of walking via loss of vibratory sense)
Symptoms of Folate Deficiency
Neurological symptoms (Evidence of depression,Peripheral neuropathy,Psychosis). During pregnancy will cause neural tube defects in the fetus (Spina bifida).
Increased need of folate
During pregnancy and lactation and Infants and children during growth
Good sources of follate
Leafy green vegetables, dried beans, liver, beef, and some fruits (oranges
Impaired absorption
Normally 50% of digested folate is available for absorption in the small intestine
intestinal disease from follate impaired absorption
Excessive Loss of Folate
Occurs through kidney, Amount is small and does not cause a deficiency
Patients on dialysis
will lose excessive amounts of folate, Give supplemental folic acid to prevent megaloblastic anemia
Hereditary transcobalamin deficiency
Vitamin B12 Deficiency can cause_________________. Rare hereditary recessive deficiency, Megaloblastic anemia presents in childhood, If untreated may see permanent neurological damage
Dietary B12 Deficiency Inadequate intake
Possible for strict vegetarians because they do not eat meat
Have reserve of ______ in liver
Dietary B12 Deficiency Impaired Absorption
General malabsorption (Inflammatory bowel disease),Competition for B12 from intestinal organisms(Fish tapeworm Diphyllobathrium latum)
Pernicious anemia
Dietary B12 Deficiency, Lack of intrinsic factor (Antibodies to intrinsic factor and parietal cells), Autoimmune lymphocyte-mediated destruction of parietal cells ,Most often seen in ages over 50, More common in people of northern European descent
Diagnostic tests of Megaloblastic Anemia
Bone marrow examination, Folate, B12, and methylmalonic acid assays,Schilling test, Stool analysis for parasites
CBC of Megaloblastic Anemia
MCV increased: 100-150 fl, Elevated RDW and MCH but MCHC within reference range,Decreased H&H and pancytopenia. Oval macrocytes and hypersegmented neutrophils , Dacryocytes, fragments, and microspherocytes, Nucleated RBCs, Howell-Jolly bodies, basophilic stippling, and cabot rings Low absolute retic count,
Schilling test
Used to distinguish pernicious anemia from other malabsorption disorders
How Schilling test works
Give oral dose of radioactive B12 (Collect 24 hour urine and test for radioactive B12,If NOT present in urine there is a malabsorption problem) Repeat test and give intrinsic factor orally along with radioactive B12 and collect 24 hour urine (If its in the urine, the patient has pernicious anemia, If it is NOT in the urine there is another cause for the malabsorption)
Southeast Asian Ovalocytes
RBCs are strongly heat resistant and rigid. May protect against Malaria.
Types of Extracorpuscular Defects nonimmune
Microangiopathic hemolytic anemia, Thrombotic Thrombocytopenic Purpura, Hemolytic-Uremic Syndrome,Macrovascular Hemolytic Anemia, Traumatic Cardiac Hemolytic Anemia, March Hemoglobinuria, HA Caused by Infection with Microorganisms,HA Caused by Thermal Injury
Other causes of Microangiopathic Hemolytic Anemia
Microangiopathic hemolytic anemia syndrome, Malignant Hypertension, Disseminated Intravascular Coagulation,Disseminated Carcinoma, Chemotherapy-Induced Microangiopathic Hemolytic Anemia Syndrome
Microangiopathic Hemolytic Anemia
Intravascular hemlyosis, occurs when RBC pass through fibrin deposits in arterioles and capillaries or through damage epithelium and vessel walls
Thromboitic Thrombocytopenia Purpura , Hemolytic Uremic Syndrome
Two most severe disorders of Microangiopathic Hemolytic Anemia
Hemolytic Anemia caused by thermal injury
patients with 3rd degree burns cover over 20% of the body, Direct thermal damage to RBCs circulating in skin and tissues lead to hemolysis. Globular fragments, budding microspherocytes presents in 24 hrs.
Malignant hypertension
Hypertension is the cause of the RBC fragmentation. RBCs forced through fibrin deposits in the arterioles. When blood pressure is brought under control the RBC fragmentation aand hemolytic anemia dissappear
Disseminated Intravascular coagulation
fibrin stands in microvasculature cause RBC fragmentation. Hemolyis is not severe. Thrombocytopenia of varying degrees. Accompanies systemic disorders (obstetric complications, disseminated carcinoma, snake bite, heat stroke, and infections) control underlying disease for treatment
Disseminated Carcinoma
MAHA is a complication, particularrly in metastatic carcinoma of the stomach. Hemolytic anemia with RBC fragmentation, hemoglobinemia, increased uncojuated bilirubrin. Shearing of RBCs on fibrin stands produced from intravascular coagulation and from contact with tumor cell emboli
Chemotheerapy-induced Microangiopathic Hemolytic Anemia
is caused byy antineoplastic drugs such as mitomycin combined with other drugs or tamofexin combined with cisplatin or other drugs. MAHA, throbocytopenia, renal failure. Prognosis is poor
Microangiopathic Hemolytic Anemia syndrome associated with transplantation
occurs in patients with organ or marrow allografts, Associated with total-body irradiation and certain drugs, MAHA syndrome, renal disease, thrombocytopenia. Difficult to treat (use measure used to treat TTP)
Immune Hemolytic Anemia
Normocytic/Normochromic, Spheroccytes, schistocytes and polychromatophilia, Reticulocytosis, positive DAT, and increase bone marrow hemotopoiesis
Extracorpuscular defects Immune cause
Immune Hemolytic Anemia, Warm reacting autoimmune hemolytic anemia, cold aggulutinin disease, Drug induced immune hemolytic anemia, Alloimmune hemolytic anemias
Classification of Immune Hemolytic Anemia
Warm reacting autoimmune hemolytic anemia, cold aggulutinin disease, Drug induced immune hemolytic anemia, Alloimmune hemolytic anemias
Thrombiotic Thromboctopenia Purpua
A type of Microangiopathic Anemia, RBC fragmentation, thrombocytopenia, fluctuation neurological, fever, progessive renal failure
What triggers TTP
Bacterial and viral infections, Innunological diseases, pregnancy, may be hereditary
Trombiotic Thrombocytopenia purpura blood smear
RBC fragments, triangular, bizarre shaped, helmet cells, microspherocytes, schistocyes, increase retics, NRBCs, Leukocyte. Basophillic stippling, Erythroid hyperplasia in bone marrow. severe deficiency of Von Wilebrand
plasma replacement therapy
The cure for TTP is
Hemolytic Uremic Syndrome (HUS)
MAHA, Shortened RBC survial, Increased retic count, THromobocytopenia and leukocytosis, acute renal failure in kids
HUS in children
acute renal failure, intravasular hemolysis, hemoglobiuria, abdominal pain.vomiting, may have hypertension. urine contain protein, RBCs and RBC cast
HUS inn Adult
most patients are women, Rarely seen in enteric infections
Difference between HUS and TTP
severity of renal failure and lack of neurologic symptoms, resembles enteric infectious disease, Toxins target renal capillary endothelium
Traumatic Hemolytic Anemia and March Hemoglobinuria
Two types of Macrovasular Hemolytic Anemias
Traumatic Cardiac Hemolytic Anemia
hemolysis that occurs in patients with valular disorders. Turbalsnce around artificial heart valve, valve may be improperly position, or valve may be spontaneously seprated from natural valve
Traumatic Cardiac Hemolytic Anemia blood smear
Retic count increased, Normal HCt, platelet decrease, helmet cells, triangular crescents, microspherocytes and other fragmented cells
Chracteristics of Traumatic Cardiac Hemolytic Anemia
LDH, Bilrubin, plasma Hb all increased. Haptoglobin decreased, hemosiderin in urine, if anemia is mild or compenstaed maintain erythropoietic activity and give iron or folic acid
March Hemoglobinuria
RBCs hemolyzed by foot pounding trauma, results from forceful repeated impacts of feet and other body parts on a hard surface seen in runners and soldiers
March Hemoglobinuria features
Hbg and Hct decreased, retic count increased after excercise, RBC slightlyy macrocytic, urine may be red or dark after exercise Hbg casts, hemosiderin, hb. clear after 6-12 hours
Cold Aggutinin Disease
rare chronic hemolytic anemia, IgM auto antibodies binds complement while patient is in cold environment, usully 50 years or older
reacts best at 20-30 degees celius in Cold Aggutinin Disease
Cold Aggutinin Disease
Anemia, hemoglobinura, and peripheral, vaso-occulusive phenomena when exposed to cold. extravascular hemolysis. raynaud's phenomenon
Alloimmune Hemolytic Anemia
Short RBC survial, increased retic count, immediatede hemolytic transfusion reaction( hemoglobenima and hemogobinuria, Indirect bilirubrin elevated, haptoglobin decrease, type snd crossmatch to reveal incompatibility, coagulation studies to assets DIC
Cause of Hemolytic Disease of newborns
ABO is milder than Rh, Anti-C or Anti-E are mild, Anti-C and anti Rell same severity as Rh
Disease of the fetus hemolytic anemia
elevated unconjugated bilirubin, extramedullar hematopoesis, infant hepatic sytem is immature so can't conjuated bilrubin , thrombocytopenia in some,
Autoimmune hemolytic Anemia
premature destructinon of RBS due to auto antibodies. antibodies, complement, or both on the RBCs. Use direct antiglobulin test (DAT) to detect
Warm-reactive Autoimmune Hemolytic Anemia (WAIHA)
70 percent of immune hemolytic anemias, IgG like 37 degress, commonn in SLE, hemolysis usually extravascular(part of RBC membranes removed by macrophage and reseals and forms spherocytes)
Primary WAIHA
cause or underlying defect is not known
Secondary WAIHA
know the cause
WAIHA blood smear
increased polychromomatophilic RBCs, occasional NRBCs, spherocytes, Increased osmotic fragility, Indirect biliruben increased, unirary and fecal urobilnogen increased, haptoglobin levels decrease
responsible for extravascular hemolysis
responsible for intravascular hemolysis and fix complement
Features of WAIHA
Jaundice, splenomegaly, sudden onset of severe anemia, fevr pallor, hepatomegaly, and tachycardia
Auto, Allo
_______ OR __________ anitbodies bind RBCs and fix complement, shortens RBC lifespan
Hemolytic Anemia by infetcion with Microorganism
intracellular and extracellular
Intracellular microorganisms
Malaria, Babesia, Erlichia
Extracellular microorganism
clostridial sepicemia, bartonellosis, verkuga peruana
transmited by mosquito, fever chills, rigors, sweating, headache, muscle pain, 25 percent have hemolytic anemia
transmitted by tick, see on nantucket island and coastal area of N.E U.S, fever, chills headache, drenching sweats, arthralgias, myalgia, weakness and fatigue
small intracellular bacteria transmitted by ticks, grow in neutrophils and monocytes
Clostidial septicemia
intravascular hemolysis caused by gram-positive spore forming clostridium perfringens, complications of septic abortion, deep wounds, and any condition that leads to destruction of RBC and to lysis
transmitted by sandfly, bartonella baciliforms adheres to surface of RBCs
Orya fever and erkuya peruana
two clinical stages of Bartellosis
Orya fever
acute hemolytic anemia
verkuga peruana
eruptions on face and extremities and the development of bleeding, urirty tumors,
Pernicious Anemia
Vitamin b12 deficiency, folic Acid or b12 thymidin nucleotide synthesis is imparied
Hemosiderosis and Hemochroomatosis
another word for iron overload, whether hereditary or acquired
Hypochromic, microcytic
The RBCs seen in iron deficiney anemia may be caharterized as
Stage two of IDA
Craving ice, CBC normal, decreased Hb
Chronic inflammation
Increased iron stores, impaired immobilization of iron, normocytic/normochromic. Iron studies: serum iron and TIBC decreased, ferritin increased.
treatment for Chronic inflammation
treat with therapeutic erythropoietin, remove underlying condition
Autoimmune hemolytic anemia
When ordering the DAT, IAT doctor is concerned about _____________, spherocytes,Hb, HCT, RBC surival all decrease
therapeutic phlebtomy
hereditary hemochromatosis give patient
Iron-chealating drug
transfusion related hemochromatosis give patient
impaired DNA synthesis
root cause of Megaloblastic Anemia
Megaloblastic Anemia
Increased retic count not consistent with diagnosis, hypersegmented neutrophils and increased RDW
Antibodies to parietal cells, Antibodies to intrinstic factor, Schilling test
Tests for Megloblastic Anemia
Megaloblastic Anemia
Macrocytic norochromic, Northern European, Macrocytosis associated with megaloblastic anemia results, reduced number of cell divisons
Disorders of Iron and heme metabolism
Iron deficiency anemia, anemia of chronic inflammation, iron over load, sideroblastic anemia
Sideroblastic Anemia
lead poising, basophillic stippling, incorporaated iron in protoporphyrin IX, Iron supply is adequate, mobilzation is normal and an intrinsic RBC defect prevent iron from being incorpated into heme
Ineffective erythropoiesis
production of progenitor cells that are defective and destroyed before leaving the bone marrow
Acquired sideroblastic anemia
lead poisoning and porphyrias
Sideroblastic Anemia
Hereditary X-linked ir autosomal Hallmark is sideroblast in bone marrow, micocytic/hypochromic with abuntant iron stores in bone marrow
Lead poisoning
Interferes with porphyrin synthesis Normochromic/Normocytic, basophillic stippling
Photosynthesitivy, fluoroscence bone and teeth, inpaired production of heme, products of heme meatabolism may also deposit in body tissue
Iron deficiency anemia
marked anisocytosis, marked hypochromia, Hypochromic/mircocytic, Increased TIBC and descreased serum ferritin and iron. Decreased Hb, HCT, MCV, MCH, RBC Count
features of IDA
Gastrointestinal bleeding(sickle Cells) and dietary deficiency due to poor diet
seen in postmenopausal women and men cause chronic blood loss, Test tron studies and Hg in urine, decreased retics
Treatment of IDA
draw fasting and early in the morning (diurnal variation-levels higher in morning and drops throughout day) Treat with dietary supplements, bllod transfusion only if Hb is dangerously low
Iron overload
Tissue most obviously infected(skin, liver, pancreas, heart muscle)
Iron over load Iron studies
Transferrin, 60 percent serum iron, plasma ferritin increased
Aquired Iron overload
Need for repeated transfusion, transfusion related hemochromatosis
hereditary iron overload
mutation of genes coding for proteins of iron metabolism removal of blood by phlebotomy about every 3 months for life
Iron overload skin affected
deposition of hemosiderrin gives a golden color
iron overload liver affected
lead to cirrhosis and cancer
iron overload pancreas affected
leads to diabetes mellitis
iron overload heart muscle affected
leads to congestive heart failure
Fanconi Anemia
Most common inherited aplastic anemia, Autosomal recessive chromosome instability disorder
Fanconi Anemia clinical findings
Skeletal abnormalities - malformations of thumbs, radial hypoplasia, microcephaly, hip dislocation, and scoliosis.Hyperpigmentation or hypopigmentation and café-au-lait spots, Short stature, Abnormalities of eyes, kidneys, and genitals, Low birth weight, Developmental delays
Dyskeratosis Congenita
Very rare; only several hundred known cases worldwide, Onset between ages 5 and 10 years. Mucocutaneous abnormalities, bone marrow failure, and pancytopenia,Abnormal skin pigmentation, dystrophic nails, and oral leukoplakia.
Pure red cell aplasias (PRCA) Patient presentation
Severe anemia, reticulocytopenia, and a normal WBC and platelet count.
Acquired or congenital
Pure red cell aplasias (PRCA) can be _________ or ___________.
Acquired PRCA
May occur in children or adults. May be acute or chronic, Form in children is also known as transient erythroblastopenia of childhood, History of viral infection in half of patients, Normocytic anemia, Transfusion is the initial therapy.
Diamond-Blackfan Anemia
A form of Congenital PRCA
Diamond-Blackfan Anemia Bone marrow examination
Normal cellularity of myeloid cells and megakaryocytes, Hypoplasia of erythroid cells, Hb F is increased,
Abnomalies of Diamond-Blackfan Anemia
Craniofacial dysmorphism, growth retardation, neck malformations, and thumb malformations
Congenital PRCA: Diamond-Blackfan Anemia therapy
Transfusions and corticosteriods, Therapy for patients with severe anemia(Stem cell transplant), Perform stem cell transplant if have an HLA-identical sibling
Congenital Dyserythropoietic Anemia (CDA)
Group of rare disorders characterized by refractory anemia, reticulocytopenia, hypercellular bone marrow with markedly ineffective erythropoiesis.Secondary hemosiderosis due to extramedullary hemolysis of erythroblasts and circulating RBCs (Jaundice amd cholelithiasis and splenomegaly are common) Iron overload develops
Congenital Dyserythropoietic Anemia (CDA) has three major types
autosomal recessive and moderate to severe chronic anemia, Malformations of fingers or toes, brown skin pigmentation, and neurologic defects, Macrocytic RBCs and may see basophilic stippling or cabot rings, May see nuclear strands between 2 erythroblasts, Treatment is interferon-α and iron depletion
CDA II aka hereditery erythroblastic multinuclearity with positive acidified serum (HEMPAS), Most common type and is autosomal recessive, Mild to severe anemia,Hb is 8-11 g/dL, Normocytic RBCs with anisocytosis, poikilocytosis, and basophilic stippling, Treat with spenectomy and iron depletion
Least common, Have familial autosomal dominant form and nonfamilial form that is extremely rare, Mild anemia, Giant erythroblasts with 12 nuclei, Patients are transfusion dependent. Do not see iron overload,
Myelophthisic Anemia
Infiltration of abnormal cells into the bone marrow (Destruction or replacement of normal cells,Release cytokines and growth factors that destroy normal cells) Abnormal cells involved
Myelophthisic Anemia characteristics
Early release of blood cells into peripheral circulation. Stem and progenitor cells migrate to spleen and liver - extramedullary hematopoietic sites. Mild to moderate anemia with normocytic RBCs, Dacryocytes and nucleated RBCs, Immature WBCs, Megakaryocyte fragments,Giant platelets
Anemia of Chronic Renal Insufficiency
Major cause is chronic renal disease, Inadequate production of erythropoietin, Bone marrow can't increase production of RBCs in response to tissue hypoxia, See with even moderate impairment of kidney function
Anemia of Chronic Renal Insufficiency contributing factors
Dialysis patients experience chronic blood and iron loss and folate depletion, Waste products accumulate and shorten life span of RBCs
Treatment of Anemia of Chronic Renal Insufficiency
Treatment is recombinant human EPO, Give iron supplements if ferritin is <100ng/mL
Anemias associated with bone marrow
Aplastic anemia, Pure red cell aplasias, Congenital Dyserthropoietic anemia, Myelophthisic anemia, Anemia of chronic renal insuffiency
Hereditary Defects of the RBC Membrane
Hereditary Spherocytosis, Hereditary Elliptocytosis, Hereditary Pyropoikilocytosis, Southeast Asian Ovalocytosis aka Stomatocytic HE,
Inherited Disorders of RBC Cell Cation Permeability and Volume
Hereditary Stomatocytosis, Acquired Stomatocytosis, Stomatocytosis in RHnull Disease , Hereditary Xerocytosis, Acanthocytosis
G6PD Deficiency
Favism, Results when exposed to fava bean (broad bean), Seen primarily in Mediterranean area,
G6PD Deficiency
Malaria may select for G6PD deficiency(Plasmodium falciparum), Does serve some protection, Deficiency more common in certain geographic areas where malaria is common
G6PD Deficiency characteristics
Most patients remain asymptomatic, Normocytic, normochromic, Morphology varies depending on severity Anisocytosis, poikilocytosis, distorted cells, and bite cells. Heinz bodies in the case of oxidative drugs
Pyruvate Kinase Deficiency
Most common in people of Northern European ancestry, High prevalence in Amish country - Mifflin County, PA
hereditary spherocytosis
spherocytes, positive osmotic fragility, to confirm. Do not need splenectomy( it is for patients with severve anemia)
paroxysmal Nocturnal hemoglobinuria
exhibits servitiey of one population of RBC to complement associated sleep
heinz bodies
what may be seen on a perpherial smear of deficiency of G6PD
myelophtisic anemia
results from infiltration of abnormal cells into the bone marrow and sequent destruction and replacement of normal hemopioteic cells
miroangicpathic anemia
maliganant hypertension is a form of what anemia
paroxysal cold hemoglobiuria
what anemia is a Autoimmuune hemolytic anemia
Hemoglobin S
Most commn form of hemoglobinopathy
homozygous (hb SS), heterozygous (hbAS)
Hemoglobin S is inherited as ____________ or ___________.
Hbg S
two alpha and two beta, on the beta chain in the sixth position glutamic acidis replaced by valine. When sickle blood becomes more viscus and reduce blood (decrease in oxygen tension, reduced pH, increase of 2,3-BPG)
Reversible and Irreversible
Two forms of sickle cell
Reversible sickle cells
change shape in response to oxygen tensions
Irreversible sickle cells
do not change shape regadless of oxxygen tension
Life expectancy of 45 years
Life expectancy of 65 years
hallmark feature of SCD is
sickle cell disease
patients are symptom free until second half of 1st year of life due to Hb F undergo periods of pain termed crises
Sickle cell disease peripheral smear
Normocytic/normochromic, marked poikilocytosis and aninocytosis, sickle cell, target, NRBC, papenheimer bodies, howell-joly bodies, thrombocytosis, RDW increase, moderate leukocytosis with mild shift to left
Hb solubility test, electrophoresis
Sickle cell disease most common screening test is ___________ confirm with _________ test
Hand and foot syndrome
associated with sickle cell disease, seen in kids younger than three, swelling of hands and feet. increase intake of fluids and analgesic for pain.
Hemoglobin C
Most common non sickling varient of Hb in U.S. Lysine substituted glutamic acid in the 6th position of beta chain
Hemoglobin C
Found almost exclusive in african american population 17-28% of west africians, 2-3% of African American. Milder than HbS Vaaso-occlusive does not occur
Hemoglobin C clinical features
Normochromic/Normocytic MCV and MCHC normal or increased, Increase in target cells and retics.
Hemoglobin C
Negative Hb solubility test, diagnose with electrophoresis no specific treatment
Paroxysmal Cold hemoglobinuria
Rare acute form of cold generarted hemolysis complement binding IgG with specificity for P antigens on RBCs--reacts at 15 degree C or below
positive for only complement, complement is bound at cold temp, lysis occur only after warming (biphasic)
Paroxysmal Cold hemoglobinuria cinical features
hemoglobinemia and hemoglobinuria spherocytes and reticulocytes, monocytes and neutrophils may phagocytize RBCs
Paroxysmal Cold hemoglobinuria symptom
symptoms appera short time after exposure to cold...pain in back and legs, abdominal cramps, headaches, chills and fever. associated with syphilis, acute, viral disorders, and idipathic myelofibrosis
Drug-Induced Hemolytic Anemia
self limting remove drug and recover
ternary type drug-induced hemolysis
IgG binds drug-epitope combinatio sites; neoantigen. Acute intravascular hemolysis DAT only detects complement
hapten or drug adsorption-induced hemolysis
Drug is absorbed to RBCs and patients develop antibody to drug; mil to moderate extravascular hemolysis; DAT is positive for IgG.
hapten or drug adsorption-induced hemolysis therapy
discontinue drug when symptoms develop and avoid drug