HEMATOLOGY 1 (LECTURE)

- Reduction of red cell mass - Small and pale red cells because hemoglobin is
- Decreased concentration of hemoglobin not enough
- There is a decreased ability of RBCs to transport - Any deficiency problem with hemoglobin
out oxygen components may result in decrease production
- Hemoglobin level is the first one to check to of hemoglobin
evaluate anemia - Causes:
o Male: < 12 g/dL o Iron deficiency anemia
o Female: < 11 g/dL o Chronic disease
- Relative anemia: normal RBC mass, low volume o Sideroblastic anemia
o Transient or temporary o Thalassemia
o normal retics
o Example: dehydrated IRON DEFICIENCY ANEMIA (IDA)
- Absolute anemia: low RBC mass, normal volume - Most common cause of anemia
o low RBC delivery to circulation (bone
- Usually smaller in size
marrow is not producing enough RBCs) - Due to dietary inadequacy, malabsorption,
o there is an impaired production of RBCs
increase iron loss, & increased iron requirement
o loss of RBC from circulation
- Do not diagnose IDA by measuring iron alone
▪ destruction of RBCs because of - Low ferritin confirms IDA
antibodies or certain external
factors such as malaria
Lab Findings
▪ bleeding because of accidents,
acute or chronic bleeding, etc. ✓ CBC: decreased hemoglobin
✓ Retics: low to normal
✓ OFT: decreased
Signs and Symptoms
✓ Bone marrow: erythroid hyperplasia
• easy fatigability ✓ Others:
• dyspnea on exertion o Decreased: serum iron, % saturation,
• bounding pulse serum ferritin (stored iron)
• palpitations o Increased: Total Iron Binding Capacity
• systolic murmur (TIBC – ability of the iron to be stored as
• headache, faintness, and vertigo ferritin) and Free Erythrocyte
• pallor Protoporphyrin (FEP)
• low BP
• spoon nails ANEMIA OF CHRONIC DISEASE
- Due to chronic infections, inflammatory process,
Evaluation of Anemia and malignant neoplasms
• red cell count - Blockage in deliver of iron to the developing red
• red cell indices cells
• hemoglobin and hematocrit - Low serum iron and TIBC; high serum ferritin
• red cell distribution width (RDW)
• Peripheral Blood Smear (PBS): to evaluate the SIDEROBLASTIC ANEMIA
morphological features of RBCs - Abnormalities in heme metabolism
• Reticulocyte count: index of normal - Adequate iron stores but unable to incorporate it
erythropoiesis into hemoglobin because there is lack of
o Especially in cases of hemolytic anemia protoporphyrin IX
to determine whether the bone marrow - Presence of nucleated RBC with iron granules
is responding or not - Primary: idiopathic (cause is unknown)
• Osmotic Fragility Test (OFT): evaluates the - Secondary: side effect (other diseases that
relationship of RBCs surface area to its volume results to sideroblastic anemia such as B12
ratio deficiency, porphyria, and leukemia)
o Especially in cases of spherocytosis - RDW increased
• Bone marrow examination - Hypercellular BM
- Normal retics
CLASSIFICATION OF ANEMIA - High serum iron, serum ferritin, and LDH
Physical Characteristics - (+) stain: Prussian blue (Perl’s stain)
- Pappenheimer bodies on Giemsa
• Degree of hemoglobinization: diameter of
central pallor
Evaluation of Anemia
• Size of red cells
Serum Serum
TIBC FEP RDW
Iron Ferritin
Pathogenesis IDA Low High Low High High
• Disorders of red cell formation Chronic
Low Low High High Normal
Disease
• Excessive loss of red cell
Sideroblastic High Normal High Low High
• Abnormal distribution of red cells
 HEMATOLOGY 1 (LECTURE)
- Normal in size and color
- The number of circulating red cells are low
- Quality/Quantity
- Delivery of oxygen is depleted
- Causes:
o Aplastic anemia
o Hemolytic anemia
o Renal disease
o Acute blood loss
APLASTIC ANEMIA
- Absence of hematopoietic cells in the BM
- Usually associated with pancytopenia (all cell
counts are low)
- Associated with:
o Drug exposure, such as chloramphenicol
and sulfonamides
o Viral infections such as parvo virus B19
(one of the common causes of aplastic
anemia), measles, cytomegalovirus, and
Epstein-Barr virus
o Exposure to toxins such as benzene,
pesticides, or radiation
o Tuberculosis
o Chemicals
- Fanconis anemia: congenitally acquired anemia
- Severe if 3 of the 4 criteria are present:
o Neutrophil count: < 500/uL
o Platelet count: < 20,000/uL
o Reticulocyte count: < 10,000/uL
o Markedly hypocellular marrow
- Common in people 50 years old and above
- 50% of people with aplastic anemia has a six
months mortality rate
- Treatment: bone marrow transplantation
Pure Red Cell Aplasia
- Hypoplasia of erythrocyte precursors only
- Other cell precursors are still normal
- Severe anemia with reticulocytopenia
- If the causes of pure red cell aplasia is not
addressed, it can progress to aplastic anemia
- Associated with:
o Hemolytic anemia
o Parvovirus infection
o Drugs
o Thymoma
- Diamond-blackfan syndrome: congenitally
acquired
HEMOLYTIC ANEMIA
- Shortened red cell survival
- Destruction of RBCs
- Intracorpuscular or extracorpuscular defects
- Classification:
o Intrinsic: red cell itself has a problem
o Extrinsic: red cells are normal but there
are external factors that destroy RBCs
- Intravascular: RBC is lysed within the vessel
o The hemoglobin binds with haptoglobin
- Extravascular: RBC is lysed outside the vessel
(particularly by macrophages in the spleen)
Intrinsic Hemolytic Anemia
Hereditary defects
Abnormalities of red cell membranes
Hereditary Spherocytosis
- Autosomal dominant trait in whites
- Causes:
o Increased temperature
o Certain antibodies
o Deficiency in spectrin
- Loss of red cell membrane resulting in decreased
surface area
- Cells are less deformable
- Clinical features: jaundice, splenomegaly, skeletal
abnormalities, chronic leg ulcers, gall stones,
spherocytes, and stomatocytes in PBS
- Lab findings:
o Increased: OFT, B1, LDH, urobilinogen
▪ Since OFT is also increased in cases of AIHA,
perform Direct Antiglobulin Test (DAT) to
detect the presence of antibodies
o Decreased: haptoglobin
Hereditary Elliptocytosis
- Inherited disorder characterized by deficiencies in
protein band 4.1
- Defective membrane protein skeleton structure,
elongated elliptical cells
- Variant: hereditary pyropoikilocytosis
Inherited RBC enzyme defects
G6PD Deficiency
- X-linked disorder
- Deficiency in G6PD will result to the loss of NADPH
- Inability to neutralize oxidation stress
- Hemoglobin molecule is unstable, susceptible to
hemolysis
- When RBCs are oxidized, hemoglobin is denatured
- Rapid intravascular destruction
- Resistance to malaria
- Clinical patterns:
o Neonatal jaundice (increased bilirubin)
o Congenital hemolytic anemia
o Drug-induced hemolysis (caused by primaquine)
o Favism (after consuming fava beans)
- Classes of G6PD deficiency
o Class I: severe deficiency
▪ Hemolysis is chronic
▪ < 10% activity of G6PD
o Class II: severe deficiency
▪ Hemolysis is intermittent
▪ < 10% activity of G6PD
o Class III: mild deficiency
▪ 10-60%
▪ Exposure to stress
- Lab diagnosis
o Inclusion bodies: Heinz bodies (recovered using
supravital stain)
o Increased retics, bilirubin, serum LDH
o Hemoglobinuria
o Decreased haptoglobin
o Negative Coomb’s test
- G6PD testing is part of the newborn screening
- Confirmatory: G6PD assay or G6PD fluorescence
testing
- Other tests:
o Ascorbate cyanide test (non-specific)
▪ Red cells are exposed to sodium cyanide
and sodium ascorbate
▪ Normally, RBCs Should remain intact
▪ Solution should remain red
▪ If there is G6PD deficiency, red cells are
lysed resulting to brownish color solution
Pyruvate Kinase Deficiency
- Problem in E-M pathway
- Pyruvate kinase is an enzyme needed in the production
of energy
o Lack of this enzyme will result to lack of energy
o Sodium and calcium can now easily enter the
RBC, resulting to lysis
- Failure to generate sufficient ATP results in defective
control ions
- Jaundice and splenomegaly
- Confirmatory test: PK assay
 HEMATOLOGY 1 (LECTURE)

Disorders of Hgb production - Laboratory findings:

Hemoglobinopathy o Elevated reticulocyte count
Thalassemia o Increased concentration of indirect bilirubin
o Hemoglobinuria
o Positive Donath-Landsteiner of Rosenbach or
Acquired defects Ehrlich or Sanford test
Paroxysmal Nocturnal Hemoglobinuria o Positive for methemalbumin
- Red cells are lysed because of complement Alloantibody
- It is manifested by hemosiderin in the urine Transfusion Reactions
- Deficiency in DAF - Blood incompatibility
- Decay Accelerating Factor (DAF) regulates complement - Laboratory findings:
- Increased susceptibility to complement mediated red cell o Direct antiglobulin test (DAT) positive
lysis o High hemoglobin (even in the urine)
o EM: protuberances on the red cell surface
- Chemical abnormalities
o Deficient acetylcholinesterase activity and abnormally Non-Immune Hemolytic Anemia
constituted glycoprotein - Antibodies are not involved
- Lab diagnosis - Transient forceful contact of the body with hard surfaces
o Screening: Sugar of sucrose lysis test o Associate with athletes, boxers, triathletes, marathon
▪ Excessive hemolysis when exposed to low ionic runners, tennis players
strength solution - May be caused by mechanical trauma, microangiopathic
▪ Px’s RBC + serum + sucrose hemolytic anemia, chemical and toxic agents, infections,
▪ Make sure that the serum is compatible to the hypersplenism, and systemic disease
patient - Mechanical trauma: chemicals, drugs, snake venom,
o Confirmatory: Ham’s acid hemolysis test prosthetic heart valves
▪ Excessive hemolysis when exposed to o Defective prosthetic heart valves has been associated
complement containing serum at low pH with Waring Blender Syndrome
▪ Has three different set-up - Thermal burns: red cells are exposed to increased
• Tube 1: Px’s RBC + serum + acid (0.2 N HCl) temperatures
o Lysis is present - Infections: damages red cell membranes
• Tube 2: Px’s RBC + own serum o Microbial infections such as Plasmodium falciparum or
o Lysis is present Clostridium perfringens
• Tube 3: Px’s RBC + inactivated serum (56°C) - Associated with microangiopathic hemolytic anemia (cells
o Lysis is not present because are lysed because of the problem within the blood vessel):
complement is destroyed o Disseminated Intravascular Coagulation (DIC): fibrin is
deposited in small vessels
▪ Unwanted clots is formed
Extrinsic Hemolytic Anemia o Hemolytic Uremic Syndrome: renal damage
Immune Hemolytic Anemia ▪ Kidney problems resulting to bleeding forming a
Autoantibody clot
o Thrombotic Thrombocytopenic Purpura: deficiency of
Cold Autoimmune Hemolytic Anemia (cAIHA)
enzyme ADAMST13
- Due to IgM cold reactive antibody
▪ The body keep on forming unwanted clots
- Occurs in association with infection, malignancies, or
autoimmune disorders
- The cold reacting antibodies binds to the RBCs resulting HEMORRHAGIC ANEMIA (BLEEDING)
to destruction
- Laboratory findings: - Acute bleeding: sudden loss of blood resulting
o Direct antiglobulin test (DAT) is positive from injury or trauma
▪ To check for complement coated RBCs - Chronic bleeding: long-term and gradual
o Cold agglutinins titer is increased o Example: gastrointestinal bleeding
▪ Cold agglutinin syndrome
- Cold agglutinins:
- Red cells are normocytic and normochromic
o Anti-I: infected with mycoplasma pneumoniae - Body adjusts, increased heart rate
o Anti-i: infected with Epstein-Barr virus that cause - Expanding circulatory volume
infectious mononucleosis o Hematologic response to acute blood
- Peripheral smears
loss
o Polychromatophilia
o Spherocytosis - Increase platelet count, circulating granulocytes
o Agglutination of red cells - Increased EPO levels in 6 hours
Warm Autoimmune Hemolytic Anemia (wAIHA) - Reticulocytosis in 24 hours
- RBCs react with IgG and/or complement
- Idiopathic cases or secondary
- Laboratory findings: RENAL DISEASE
o High: OFT, bilirubin, retics - Decreased release and production of
o Direct antiglobulin test (DAT) positive
erythropoietin
▪ To differentiate it between spherocytosis
- Autoimmune hemolysis is positive because of the - Decreased in RBC count
antibody - Red cells are normocytic and normochromic

Example: Paroxysmal Cold Hemoglobinuria

- Associated with biphasic IgG antibodies
o When red cells are exposed to cold environment, MEGALOBLASTIC ANEMIA
complement binds to the RBCs but there is no
lysis - Deficiency in:
▪ IgG antibody allows complement to bind o Vitamin B12 (Cobalamin)
on red cells o Folic acid (folate)
o When red cells are exposed to warm
- Defective DNA production
environment (37°C), RBCs are destroyed
- This is a rare state in which hemolysis occurs when - Earliest signs: hypersegmented PMNs, oval
blood is warmed after previous exposure to chilling macrocytes
- Associated with Donath-Landsteiner antibody or Anti-
P antibody
 HEMATOLOGY 1 (LECTURE)
- Megaloblastic state affecting the RBCs
- Megaloblastic: it does not only affect RBCs. It
also affects other cells such as WBCs and
platelets
o All cells contain nucleus which need the
same set of nutrients for their
maturation such as B12 and folic acid
- Lab diagnosis:
o Pancytopenia (all cells are low)
o Macroovalocytes
o WBCs and platelets are low
o Hypersegmented PMNs
o Low retics
o BM: marked erythroid hyperplasia
o Blood chem: increased B1, serum iron
and LDH
o Inclusions: Howell-Jowell bodies, as well
as pappenheimer bodies, cabot rings,
and basophilic stipplings
Vitamin B12 (Cobalmine) Deficiency
- Intrinsic factor: needed to absorb Vit. B12 in
terminal ileum
o intrinsic factor is synthesized by parietal
cells
- Pernicious anemia: most common cause,
characterized by a deficiency in intrinsic factor
(presence of antibody that acts against the
intrinsic factor or parietal cells)
o Gastrectomy, atophic gastrisis
o Veganism
o Diphyllobothrium latum infection
- Features: weakness, jaundice, sore tongue,
numbness, and other CNS disease
- Laboratory findings:
o Low vitamin B12
o Folic acid may be decreased
o Elevated metabolites because it is not
absorbed
- Schilling test: for megaloblastic state
o Abnormal in cases of vit. B12 deficiency
Vitamin B9 (Folate or Folic Acid) Deficiency
- It does not affect the CNS
- Due to:
o Dietary (most common)
o Intestinal malabsorption
o Increased demand
o Excess loss
o Defective synthesis
NON-MEGALOBLASTIC ANEMIA
- Anemia of liver disease
- Membrane abnormalities of RBCs
- Liver provides vital components for the
maturation of RBCs
o Problems with liver will result to
incomplete development of RBCs at well
as its membrane
Liver Disease
- Non-megaloblastic anemia
- Decreased cholesterol synthesis
- Spur cells, acanthocytes
- Excess production of cells
- Primary erythrocytosis: uncontrolled growth of
cells for no apparent purpose
- Associated with Polycythemia vera
Differentials of erythrocytosis
- Primary polycythemia: PV
- Secondary polycythemia: high altitude, CPD,
cyanotic congenital heart disease, low cardiac
output, hypoventilation syndrome, high affinity
Hgb variants, neoplasms-renal artery stenosis,
renal transplant
- Abnormal cell production, unresponsive to
treatment
- Hallmark is ineffective erythropoiesis, with
markedly hypercellular marrow and abundant
abnormal erythroid precursors
- Precursors are megaloblastic
- It will later on lead to leukemia if it is not
managed immediately
- A person has anemia (there is insufficient
amount of RBCs) because the bone marrow
produces and releases immature cells
- Usually a genetically acquired inborn error of
metabolism
- Deficiencies of enzymes involved in porphyrin-
heme biosynthesis pathway
- Diagnosis: spectroscopy and biochemical
analysis of blood, urine, and stool
- Urine porphobilinogen is mostly elevated
- Associated with sideroblast cells (accumulation
of iron in RBCs)
- Patients are photosensitive
Genetic Porphyrias
- Manifestation may be neurologic (excruciating
pain and other neurologic symptoms),
cutaneous
- Acute intermittent porphyria (AIP)
Acquired Porphyrias
- Associated with lead poisoning
- Lead will block the protoporphyrin pathway,
which will affect the heme synthesis
o D-ALA will not be converted into
porphyrins
- Adults (occupational) and children (PICA)
- Enzymes depressed:
o Delta amino levulinic dehydratase
o Heme synthetase
- Features: abdominal pain, weakness
- Lab diagnosis:
o Anemia (micro/normo)
o Increased reticulocytes
o Decreased OFT
o Inclusions: basophilic stipplings
 HEMATOLOGY 1 (LECTURE)

2. Beta Thalassemia
➢ Hemochromatosis - Production of B chain will occur only at 3-6
o Increased GIT absorption and systemic months after birth
iron overload - Homozygous beta thalassemia: (major, cooley’s
o iron deposits in liver anemia, Mediterranean anemia) severe lifelong
➢ Hemosiderosis anemia
o secondary iron accumulation. - Heterozygous beta thalassemia: one normal and
o Iron deposits in parenchymal cells and one abnormal beta chain (minor)
Kupffer cells in the portal tract Other Names Description
Minor • Heterozygous - results when one of the 2
• Cooley’s trait genes that produce beta
• Rietti-Greppi- globin is defective
Micheli disease - usually presents a mild,
- characterized by decreased rate of production or asymptomatic anemia
total absence of globin chains Intermediate • Thalassemia - more severe but do not
Intermedia require regular transfusion
- less globin = less hemoglobin produced = less - occasional transfusions
delivery of oxygen to tissues Major • Homozygous - decrease or complete lack
- 2 important chromosomes for the production of • Cooley’s Anemia of beta chains
• Mediterranean - most severe form
globins: Anemia - TRANSFUSION dependent
o Chromosome 16: responsible for the • Target Cell Anemia anemia
synthesis or generation of alpha and
zeta globins 3. Hereditary Persistence of Hb F (HPHF)
o Chromosome 11: responsible for the - thalassemia with increased levels of fetal
synthesis or generation of beta, delta, hemoglobin
epsilon, and gamma globins - partial or total suppression of beta and delta
- gene for synthesis is located in chromosome 16 chains and Hb F increased to compensate
and chromosome 11 - less delivery of oxygen to tissues
o Alpha Thalassemia – decreased - test for Hb F:
production of alpha chains o alkali denaturation test
o Beta Thalassemia – decreased ▪ Singer test
production of beta chains ▪ Betke test
- demographics: o Acid elution test: citric acid phosphate
o Southeast Asia and Mediterranean buffer is used (high amount of Hb F
region yields to pinkish to reddish solution)
- Clinical presentation:
o Minor: mild anemia (confused with IDA)
4. Hemoglobin Lepore
o Intermedia: moderate anemia
- a rare class of thalassemia caused by crossing
o Major: severe anemia (Hydrops Fetalis)
over of beta and delta genes

TYPES OF THALASSEMIA 5. Hemoglobinopathy + Thalassemia

1. Alpha Thalassemia ➢ Hemoglobin S-Thalassemia
- Each individual has 4 genes for hemoglobin o is a double heterozygous abnormality
- Severity of disease depends on the number of o the abnormal genes for Hb S and
genes/globin chains defective or missing thalassemia are coinherited
o If 2 = alpha trait (minor) o Types:
o If 3 = H hemoglobin (intermedia) ▪ Hb S-α-thalassemia
▪ Can be observed using ▪ Hb SS-α-thalassemia
supravital stain ▪ Hb S-β-thalassemia
o If 4 = Barts hemoglobin (major) ➢ Hemoglobin C-Thalassemia
Hemoglobin o β thalassemia with inherited Hb C
Description
Present ➢ Hemoglobin E-Thalassemia
Silent Carrier (- α / α α) deletion of one α birth: 1%-2% Hb
globin gene, leaving 3 Bart’s
o co-inherited of Hemoglobin E and β
functional α globin adult: normal Hb A, thalassemia that results to a marked
genes Hb Bart reduction of β chain production.
α Thalassemia Trait deletion of two α birth: 2%-10% Hb
Homozygous (- α / - α) globin gene Bart’s
Heterozygous (- - / α α) adult: normal Hb A LABORATORY FINDINGS OF THALASSEMIA
Hemoglobin H Disease caused by the birth: 10%-40% Hb
(- - / - α) presence of only one Bart’s replaced by • CBC
gene producing α Hb H 30-50% o ↓Hb and Hct
chains. remainder: Hb F,
HbA₂, Hb Bart’s o ↑RBC count
and Hb A o ↓RBC indices (MCV and MCHC)
adult: 70% Hb A
o ↑RDW
Hydrops Fetalis (- - / - -) results in the absence birth: 80%-90% Hb
of all α chains Bart’s 5%-20% Hb • Peripheral Smear
synthesis and Portland, trace of o microcytic hypochromic
incompatible with life Hb H
o exhibits anisocytosis and poikilocytosis
(target cells and elliptocytes)
o presence of NRBC
o polychromasia and basophilic stippling
 HEMATOLOGY 1 (LECTURE)
• Increased Reticulocyte count
• Bone marrow examination
o shows hypercellular with extreme
erythroid hyperplasia
• Decreased OFT
• Supravital stain
o shows Hb H inclusions
• Electrophoresis (migration pattern)
o differentiates hemoglobin variants
• Mass Spectrophotometry
o assess the difference in mass of the
globin chains
o detects single amino acid substitutions
in the globin chains
• DNA analysis
o identify globin gene mutations
▪ PCR
▪ Signal Amplification System
• Increased Indirect Bilirubin
- The problem is more on the amino acids of
globins
- These are a group of inherited disorders causing
structurally abnormal globin chain synthesis due
to amino acid substitutions (qualitative defect)
- changes in RBC deformability and
electrophoretic mobility can occur.
- Homozygous/ disease conditions (both globin
chains affected) are more serious than
heterozygous/trait conditions (only one globin
chain affected).
SICKLE CELL DISEASE
- Hgb S – most common abnormal hemoglobin
- normal glutamic acid at 6th position in the B chain
is replaced by valine
- Results in: altered solubility, altered ability to
withstand oxidation, instability, increased
propensity for methemoglobin production,
increased or decreased oxygen affinity
- Hgb A is lacking, Hgb S is present
- Sickling is increased
o low oxygen tension
o low pH
o increased body temp
- confers protection against falciparum malaria
- laboratory tests:
o Sodium metabisulfite test
▪ Positive: sickling
o Solubility test
▪ Reagent: sodium dithionate
▪ Positive: turbidity
- Clinical considerations:
o Homozygous S (SS) – lifelong, severe,
hemolytic anemia
▪ hemolytic crisis, vaso-occlusive
episodes, prone to infection
(pneumococcus), gallstone is
common, bone pain and
tenderness
o Heterozygotes – one Hgb S gene, one
Hgb A
▪ Sickle cell trait (Hgb AS)
▪ usually with no apparent disease
▪ protected from Plasmodium
falciparum infection
▪ normal PBS
▪ positive sickle cell solubility test
Laboratory Diagnosis
• Peripheral Blood Smear:
o marked poikilocytosis, inclusion bodies,
sickle cells (6-18%)
o increased WBCs, platelets, retics
• Bone Marrow:
o marked erythroid hyperplasia
o high iron storage
• Blood Chemistry:
o increased B1, serum iron
HEMOGLOBIN SC (Hgb SC) DISEASE
- Hgb SC disease is a double heterozygous
condition where an abnormal sickle gene from
one parent and an abnormal C gene from the
other parent inherited.
o One beta is replaces by valine and the
other beta is replaced with lysine
- Laboratory:
o Moderate to severe normocytic/
normochromic anemia with target cells
o characterized by SC crystals
o may see rare sickle cells or C crystals
o positive haemoglobin solubility
screening test.
HEMOGLOBIN C (Hgb C) DISEASE
- resembles Hgb S but instead of valine, lysine is
seen on the 6th position of B chain
- mild hemolytic anemia
- Hgb C crystals and clam shaped cells
- Laboratory:
o Normochromic/ normocytic anemia
with target cells
o characterized by intracellular rodlike C
crystals
- Hgb C migrates with hemoglobins A2, E, and O on
alkaline hemoglobin electrophoresis; can
differentiate hemoglobins using acid
electrophoresis.
HEMOGLOBIN E DISEASE
- Caused when lysine replaces glutamic acid at
position 26 on the beta chain.
- Homozygous condition results in mild anemia
with microcytes and target cells; heterozygotes
are asymptomatic.
- Hgb E migrates with hemoglobin A2, C, and O an
alkaline hemoglobin electrophoresis.
HEMOGLOBIN D (PUNJAB) DISEASE
- Caused when glycine replaces glutamic acid at
position 121 on the beta chain.
- Hgb D migrates with Hgb S and Hgb G on alkaline
hemoglobin electrophoresis.
HEMATOLOGY 1 (LECTURE)