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Anemia in Women
Anemia in Women
Peggy Mancuso, Ph.D., CNM
Peggy Mancuso, Ph.D., CNM
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What is blood?
What is blood?
Plasma (60%)
Plasma (60%)

Water
Water

Dissolved ions and protein


Dissolved ions and protein
Cellular components (40%)
Cellular components (40%)

WBCs
WBCs

RBCs
RBCs

Platelets
Platelets
3 3
Erythrocyte Development
Erythrocyte Development
1.
1.
Stem cell
Stem cell
2.
2.
Early RBC progenitor
Early RBC progenitor
3.
3.
Late RBC progenitor
Late RBC progenitor
4.
4.
Pronormoblast
Pronormoblast
5.
5.
Basophilic normoblast
Basophilic normoblast
6.
6.
Polychromatophil
Polychromatophil
7.
7.
Orthochromatic normoblast
Orthochromatic normoblast
8.
8.
Reticulocyte (large cell)
Reticulocyte (large cell)
9.
9.
Mature RBC
Mature RBC
4 4
What are reticulocytes?
What are reticulocytes?
Adolescent RBCs
Adolescent RBCs
1.
1.
Erythropoietin from kidneys
Erythropoietin from kidneys
2.
2.
Bone marrow responds
Bone marrow responds
3.
3.
Reticulocytes are produced
Reticulocytes are produced
4.
4.
Released into circulation
Released into circulation
Accelerated RBC production more reticulocytes
Accelerated RBC production more reticulocytes
!
!
5 5
What accelerates RBC production?
What accelerates RBC production?
1.
1.
Hemolysis
Hemolysis
2.
2.
Blood loss
Blood loss
3.
3.
Hemoglobin S disease
Hemoglobin S disease
4.
4.
Cancer
Cancer
5.
5.
Pregnancy
Pregnancy
6.
6.
Iron replacement in iron deficiency
Iron replacement in iron deficiency
anemia
anemia
6 6
What if reticulocytes are
What if reticulocytes are
decreased?
decreased?
Normal
Normal

1
1
-
-
2% of RBCs are reticulocytes
2% of RBCs are reticulocytes
Decreased when bone marrow is not
Decreased when bone marrow is not
making RBCs
making RBCs

Iron deficiency
Iron deficiency

Aplastic anemia
Aplastic anemia

Chronic infection
Chronic infection

Untreated pernicious anemia


Untreated pernicious anemia
7 7
What is hemoglobin?
What is hemoglobin?
Oxygen carrying protein
Oxygen carrying protein
2 pairs of polypeptide chains (globins)
2 pairs of polypeptide chains (globins)

2 alpha chains
2 alpha chains

2 beta chains
2 beta chains
Each chain has heme molecule
Each chain has heme molecule

Heme = iron + protoporphyrin


Heme = iron + protoporphyrin
Hemoglobinopathy
Hemoglobinopathy

Abnormal hemoglobin
Abnormal hemoglobin
8 8
Types of Hemoglobin (Hb)
Types of Hemoglobin (Hb)
Fetal hemoglobin
Fetal hemoglobin

Hb F
Hb F
Hb A
Hb A

Adult hemoglobin
Adult hemoglobin

2 alpha and 2 beta chains


2 alpha and 2 beta chains
Hb A
Hb A
1c 1c

Hb A with glucose
Hb A with glucose

3
3
-
-
6 % normal
6 % normal

Elevated with diabetes


Elevated with diabetes
9 9
Hemoglobinopathy
Hemoglobinopathy
Sickle cell
Sickle cell

Hb S
Hb S

beta chain mutation


beta chain mutation

Most common hemoglobinopathy


Most common hemoglobinopathy
Thalassemia
Thalassemia

Deletion or mutation of chain


Deletion or mutation of chain
10 10
Red Blood Cell Indices
Red Blood Cell Indices
RBC
RBC
Hgb
Hgb
Hct
Hct
MCV
MCV
MCH
MCH
MCHC
MCHC
RDW
RDW
Reticulocytes
Reticulocytes
11 11
Red Blood Cell Count (RBC)
Red Blood Cell Count (RBC)
Number of RBCs/cubic ml
Number of RBCs/cubic ml
3.6
3.6
-
-
5.0 x 10U/ml
5.0 x 10U/ml
Lower in recumbent position
Lower in recumbent position
Exercise/excitement increase
Exercise/excitement increase
Dehydration increases
Dehydration increases
12 12
Hemoglobin (Hb)
Hemoglobin (Hb)
Amount of hemoglobin in blood
Amount of hemoglobin in blood
30% of RBC is Hb
30% of RBC is Hb
12
12
-
-
16 g/dL
16 g/dL
13 13
Hematocrit (Hct)
Hematocrit (Hct)
Volume of RBCs
Volume of RBCs
Immediate acute loss
Immediate acute loss

Equilibrium occurs
Equilibrium occurs

HCT will not reflect blood loss


HCT will not reflect blood loss
37
37
-
-
47% by venipuncture
47% by venipuncture
42
42
-
-
44% by finger stick
44% by finger stick
14 14
Mean Corpuscular Volume
Mean Corpuscular Volume
(MCV)
(MCV)
Average volume of single RBC
Average volume of single RBC
Classifies anemia
Classifies anemia

Microcytic
Microcytic

Normocytic
Normocytic

Macrocytic
Macrocytic
80
80
-
-
100 (107) fl/L
100 (107) fl/L
80
80
-
-
83 low normal
83 low normal
15 15
Mean Corpuscular Hemoglobin
Mean Corpuscular Hemoglobin
(MCH)
(MCH)
Average weight for each RBC
Average weight for each RBC
Picograms
Picograms
26
26
-
-
34 pg
34 pg
Not used as much as others
Not used as much as others
16 16
Mean Corpuscular Hemoglobin
Mean Corpuscular Hemoglobin
Concentration (MCHC)
Concentration (MCHC)
Average hemoglobin
Average hemoglobin
concentration
concentration
31 g/
31 g/
-
-
37 dL
37 dL
17 17
Red Cell Distribution Width
Red Cell Distribution Width
(RDW)
(RDW)
Coefficient of
Coefficient of
variation of red cells
variation of red cells
Anisocytosis
Anisocytosis

Variation in cell size


Variation in cell size
Normal 11.5
Normal 11.5
-
-
14.5
14.5
18 18
Reticulocytes
Reticulocytes
Number of immature RBCs
Number of immature RBCs
May increase MCV (large cells)
May increase MCV (large cells)
19 19
Other RBC Indices
Other RBC Indices
Serum Ferritin
Serum Ferritin
Serum Iron
Serum Iron
Total Iron Binding Capacity
Total Iron Binding Capacity
Transferrin Saturation
Transferrin Saturation
Serum Folate
Serum Folate
Serum Vitamin B
Serum Vitamin B
-
-
12
12
20 20
Serum Ferritin
Serum Ferritin
Bodys Storage of Iron
Bodys Storage of Iron
Low serum ferritin
Low serum ferritin

Iron deficiency
Iron deficiency

First abnormal indice with iron deficiency


First abnormal indice with iron deficiency
Normal serum ferritin
Normal serum ferritin

Chronic disease
Chronic disease
Increased serum ferritin
Increased serum ferritin

Iron overload
Iron overload

Inflammatory diseases
Inflammatory diseases

Alcoholism
Alcoholism
21 21
Iron Indices
Iron Indices
Transferrin
Transferrin

Protein that transports iron


Protein that transports iron

Measured by total iron binding capacity


Measured by total iron binding capacity
(TIBC)
(TIBC)
Serum Iron
Serum Iron

Amount of iron bound to transferrin


Amount of iron bound to transferrin
Transferrin saturation
Transferrin saturation

Percentage of serum iron to TIBC


Percentage of serum iron to TIBC

20
20
-
-
50%
50%
22 22
Red Blood Cell Folate
Red Blood Cell Folate
Diagnose macrocytic anemia
Diagnose macrocytic anemia
Low folate
Low folate

Folate deficiency
Folate deficiency

Must be low for > 20 weeks to change cells


Must be low for > 20 weeks to change cells

Pancytopenia ?
Pancytopenia ?
Low RBC folate
Low RBC folate

Specific for folic acid deficiency


Specific for folic acid deficiency
23 23
Serum B
Serum B
-
-
12
12
Low B
Low B
-
-
12
12
Diagnose macrocytic
Diagnose macrocytic
anemia
anemia
24 24
Classification of Anemia by
Classification of Anemia by
Etiology
Etiology
Decreased healthy
Decreased healthy
RBC production
RBC production

Bone marrow does not


Bone marrow does not
produce enough cells
produce enough cells

Maturational defect in
Maturational defect in
cells
cells
25 25
Classification of Anemia by Etiology
Classification of Anemia by Etiology
Increased RBC loss
Increased RBC loss

Blood loss
Blood loss
RBC destruction
RBC destruction

Intrinsic (sickle cell)


Intrinsic (sickle cell)

Extrinsic (mechanical
Extrinsic (mechanical
cardiac valve)
cardiac valve)
Combination of above
Combination of above
26 26
Classification by RBC
Classification by RBC
Morphology
Morphology
Size
Size

Microcytic: decreased MCV


Microcytic: decreased MCV

Normocytic: normal MCV


Normocytic: normal MCV

Macrocytic: increased MCV


Macrocytic: increased MCV
Color
Color

Normochromic
Normochromic

Hypochromic
Hypochromic
27 27
Microcytic Anemias
Microcytic Anemias
Iron deficiency
Iron deficiency
Thalassemia
Thalassemia
Anemia of chronic disease
Anemia of chronic disease
28 28
Macrocytic Anemias
Macrocytic Anemias
Megaloblastic
Megaloblastic

Vitamin B
Vitamin B
-
-
12 deficiency
12 deficiency

Folate deficiency
Folate deficiency
Non megaloblastic
Non megaloblastic

Chemotherapy
Chemotherapy

Liver disease
Liver disease

Reticulocytosis
Reticulocytosis

excess of immature cells


excess of immature cells

Myxedema
Myxedema
-
-
chronic hypothyroidism
chronic hypothyroidism
29 29
Normocytic Anemias
Normocytic Anemias
Acute blood loss
Acute blood loss
Anemia of chronic disease
Anemia of chronic disease
Infection
Infection
Medications
Medications
30 30
Signs and Symptoms of Anemia
Signs and Symptoms of Anemia
Often asymptomatic
Often asymptomatic
Systolic murmur
Systolic murmur
Hypotension
Hypotension
Glossitis
Glossitis
Chilitis
Chilitis
31 31
Signs and Symptoms of Anemia
Signs and Symptoms of Anemia
Dry skin
Dry skin
Thin hair
Thin hair
Pallor
Pallor
Nail ridges
Nail ridges
Pale conjunctiva
Pale conjunctiva
32 32
Microcytic Anemia
Microcytic Anemia
Iron Deficiency Anemia
Iron Deficiency Anemia
Most common anemia
Most common anemia
33 33
Normal Iron Metabolism
Normal Iron Metabolism
Ferritin: stored iron
Ferritin: stored iron

30% of total body iron


30% of total body iron

Found in liver,spleen, and bone marrow


Found in liver,spleen, and bone marrow
Transferrin
Transferrin

Transfers iron from storage to functional pool


Transfers iron from storage to functional pool
34 34
Normal Iron Metabolism
Normal Iron Metabolism
Transferrin recognized by target tissues
Transferrin recognized by target tissues
via a specific receptor
via a specific receptor
Cells with greater iron need express
Cells with greater iron need express
greater number of receptors
greater number of receptors
Iron internalized by endocytosis
Iron internalized by endocytosis
35 35
Normal Iron Metabolism
Normal Iron Metabolism
Apoferritin traps iron
Apoferritin traps iron
as part of storage
as part of storage
complex (ferritin)
complex (ferritin)
Erythropoietin
Erythropoietin
secreted by kidneys
secreted by kidneys

Stimulates RBC
Stimulates RBC
production
production
36 36
Lab Findings
Lab Findings
B12 Folate Iron Chronic
Disease
Hgb
Hct
MCV /
MCH /
MCHC /
Size
macrocytic macrocytic microcytic normocytic
37 37
Lab Values
Lab Values
Smear
Smear

Hypochromic
Hypochromic

Microcytic
Microcytic

Anisocytosis
Anisocytosis
Ani
Ani

Greek for unequal


Greek for unequal
Abnormal sizes of RBCs
Abnormal sizes of RBCs

Poikilocytosis
Poikilocytosis
Poikolo
Poikolo

Greek for irregular


Greek for irregular
Abnormal shapes of RBCs
Abnormal shapes of RBCs
38 38
Lab Values
Lab Values
Serum ferritin
Serum ferritin

<15 mcg/L
<15 mcg/L
TIBC
TIBC

Rises
Rises
Serum iron
Serum iron

<30 mcg/dL
<30 mcg/dL
MCV
MCV

<80
<80
MCHC
MCHC

<30
<30
RDW
RDW

Elevated
Elevated
39 39
Evaluation of Iron Status
Evaluation of Iron Status
Serum Ferritin
Serum Ferritin

Indicates total body iron stores


Indicates total body iron stores

< 15 mcg/L deficiency


< 15 mcg/L deficiency

Increase
Increase
Systemic inflammation
Systemic inflammation
Infection
Infection
Liver disease
Liver disease
40 40
Evaluation of Iron Status
Evaluation of Iron Status
Transferrin Saturation
Transferrin Saturation

(Serum iron)/ total iron


(Serum iron)/ total iron
binding capacity
binding capacity
(TIBC)
(TIBC)

Saturation < 20%


Saturation < 20%
indicates deficiency
indicates deficiency
41 41
Signs and Symptoms
Signs and Symptoms
Fatigue
Fatigue
Tachycardia
Tachycardia
Shortness of breath
Shortness of breath
Left ventricular
Left ventricular
hypertrophy
hypertrophy
Angina
Angina
42 42
Iron Deficiency Anemia
Iron Deficiency Anemia
30% of Diagnosed Anemia
30% of Diagnosed Anemia
Inadequate intake
Inadequate intake
Malabsorption
Malabsorption
Excessive blood loss
Excessive blood loss

Menstrual
Menstrual

GI
GI
Increased requirements
Increased requirements

Pregnancy or lactation
Pregnancy or lactation
43 43
Differential Diagnosis
Differential Diagnosis
Anemia of chronic disease
Anemia of chronic disease

Normal or elevated ferritin


Normal or elevated ferritin
Thalassemia
Thalassemia

More microcytosis
More microcytosis

Normal iron parameters


Normal iron parameters
Iron deficiency responds to iron therapy
Iron deficiency responds to iron therapy
44 44
Oral Iron Therapy
Oral Iron Therapy
Iron dose (adults)
Iron dose (adults)

Recommended dose = 200mg/day


Recommended dose = 200mg/day

Duration = 3 months
Duration = 3 months

Will respond in 10
Will respond in 10
-
-
21 days
21 days
Ferrous sulfate preferred
Ferrous sulfate preferred

Adverse effects
Adverse effects
GI complaints
GI complaints
45 45
Comparison of Oral Products
Comparison of Oral Products
Product % Iron Daily dose Fe/day
Ferrous
sulfate
20% 325mg tid 195mg
Ferrous
fumarate
33% 200mg tid 198mg
Ferrous
gluconate
11% 600mg tid 198mg
46 46
Administration of Oral Iron
Administration of Oral Iron
Empty stomach if no
Empty stomach if no
GI distress
GI distress
Administer with meat,
Administer with meat,
fish, or Vitamin C
fish, or Vitamin C
foods
foods
Keep out of reach of
Keep out of reach of
children
children
47 47
Parenteral Iron Therapy
Parenteral Iron Therapy
(Iron Dextran)
(Iron Dextran)
Noncompliance or malabsorption
Noncompliance or malabsorption
Single dose IV
Single dose IV

Dose: 500
Dose: 500
-
-
3000 mg
3000 mg

Iron content = 50mg/ml


Iron content = 50mg/ml

Total mg Iron=[0.0442 x (desired Hgb


Total mg Iron=[0.0442 x (desired Hgb
-
-
Obs
Obs
Hgb) x IBW + (0.26 x IBW)] x 50
Hgb) x IBW + (0.26 x IBW)] x 50
48 48
Iron
Iron
-
-
Rich Foods
Rich Foods
Animal protein
Animal protein

Heme iron
Heme iron
Deep green
Deep green
vegetables
vegetables
Iron
Iron
-
-
fortified cereals
fortified cereals
49 49
Parenteral Iron Therapy
Parenteral Iron Therapy
(Iron Dextran)
(Iron Dextran)
Side effects
Side effects
-
-
anaphylaxis
anaphylaxis

Arthralgia
Arthralgia

Myalgia
Myalgia

Flushing
Flushing

Malaise
Malaise

Fever
Fever

Allergy/anaphylaxis
Allergy/anaphylaxis
Give test dose: 25mg (0.5ml)
Give test dose: 25mg (0.5ml)
50 50
Follow
Follow
-
-
Up
Up
Repeat CBC 2
Repeat CBC 2
-
-
4 weeks after therapy
4 weeks after therapy
initiated
initiated
If no response
If no response

Evaluate for other anemia


Evaluate for other anemia
51 51
Anemia of Chronic Disease
Anemia of Chronic Disease
Microcytic anemia
Microcytic anemia
Normocytic/normochr
Normocytic/normochr
omic anemia
omic anemia
25% of all diagnosed
25% of all diagnosed
anemia
anemia
52 52
Chronic Diseases Causing
Chronic Diseases Causing
Anemia
Anemia
Chronic infection or inflammation
Chronic infection or inflammation
HIV
HIV
Cancer/malignancy
Cancer/malignancy
Liver failure
Liver failure
Chronic renal failure
Chronic renal failure

Decreased erythropoietin
Decreased erythropoietin
53 53
Clinical Findings
Clinical Findings
Signs and symptoms of anemia
Signs and symptoms of anemia
Labs
Labs
1.
1.
Low serum iron
Low serum iron
2.
2.
Low TIBC
Low TIBC
3.
3.
Normal or increased serum ferritin
Normal or increased serum ferritin
Dialysis
Dialysis
1.
1.
Low folate
Low folate
GI blood loss
GI blood loss
1.
1.
Positive guaiac
Positive guaiac
54 54
Further Lab Findings
Further Lab Findings
1.
1.
Hct rarely below 25%
Hct rarely below 25%
(Except with renal failure)
(Except with renal failure)
2.
2.
MCV normal or slightly low
MCV normal or slightly low
3.
3.
RBC morphology normal
RBC morphology normal
4.
4.
Reticulocytes normal/low
Reticulocytes normal/low
5.
5.
Serum ferritin normal/low
Serum ferritin normal/low
6.
6.
Serum iron low
Serum iron low
7.
7.
Transferrin saturation very low
Transferrin saturation very low
55 55
Common Features
Common Features
Hypo
Hypo
-
-
proliferative
proliferative
bone marrow
bone marrow
Low serum
Low serum
erythropoietin
erythropoietin
56 56
Goals of Therapy
Goals of Therapy
Increase Hct to target
Increase Hct to target
30% to 36%
30% to 36%
Decrease morbidity
Decrease morbidity
and mortality
and mortality
Decrease transfusion
Decrease transfusion
requirements
requirements
57 57
Erythropoietin
Erythropoietin
50
50
-
-
100U/kg TIW, IV or SC
100U/kg TIW, IV or SC
Reduce dose when:
Reduce dose when:
1.
1.
HCT approaches 36%
HCT approaches 36%
2.
2.
HCT increases > 4 points in 2 weeks
HCT increases > 4 points in 2 weeks
Increase dose when:
Increase dose when:
1.
1.
Hct does not increase > 5
Hct does not increase > 5
-
-
6 points after 8
6 points after 8
weeks
weeks
2.
2.
Hct is below target
Hct is below target
58 58
Side Effects
Side Effects
Hypertension (25%)
Hypertension (25%)
Arthralgia
Arthralgia
Nausea
Nausea
59 59
Factors Decreasing Response
Factors Decreasing Response
to Therapy
to Therapy
Iron deficiency
Iron deficiency
Blood loss
Blood loss
Infection
Infection
60 60
Iron Supplementation with
Iron Supplementation with
Erythropoietin
Erythropoietin
May be PO or IV
May be PO or IV

PO: 200mg elemental iron daily


PO: 200mg elemental iron daily

IV: 100mg for 10 consecutive treatments


IV: 100mg for 10 consecutive treatments
Avoid enteric
Avoid enteric
-
-
coated formulations
coated formulations
61 61
Lead Poisoning
Lead Poisoning
Microcytic Anemia
Microcytic Anemia
62 62
Lab Findings
Lab Findings
Hb 8
Hb 8
-
-
13 or lower
13 or lower
HCT 20
HCT 20
-
-
30%
30%
Low MCV
Low MCV
Low MCHC
Low MCHC
Slightly elevated
Slightly elevated
reticulocytes
reticulocytes
Smear dimorphic
Smear dimorphic

Normal cells
Normal cells

Hypochromic cells
Hypochromic cells

Coarse basophilic
Coarse basophilic
stippling
stippling
Elevated lead levels
Elevated lead levels
63 63
Symptoms Chronic Toxicity:
Symptoms Chronic Toxicity:
Serum Lead 25
Serum Lead 25
-
-
50 mcg/dl
50 mcg/dl
Dark line (lead
Dark line (lead
sulfide)
sulfide)

Gums around the


Gums around the
teeth
teeth
Abdominal pain
Abdominal pain
Constipation
Constipation
Vomiting
Vomiting
Peripheral neuropathy
Peripheral neuropathy
Muscle weakness
Muscle weakness
64 64
Legal Aspects
Legal Aspects
Notify OSHA and remove worker
Notify OSHA and remove worker
1.
1.
Serum lead > 60
Serum lead > 60
2.
2.
Serum lead > 50 x 3
Serum lead > 50 x 3
Severe poisoning
Severe poisoning
1.
1.
Coma
Coma
2.
2.
Convulsions
Convulsions
3.
3.
Serum lead > 70
Serum lead > 70
65 65
Thalassemia
Thalassemia
Autosomal Recessive
Autosomal Recessive
Disorder
Disorder
66 66
Thalassemia
Thalassemia
Microcytosis out of proportion to degree of
Microcytosis out of proportion to degree of
anemia
anemia
Lifelong
Lifelong
Family history
Family history
Abnormal RBC morphology
Abnormal RBC morphology

Microcytes
Microcytes

Acanthocytes
Acanthocytes

Target cells
Target cells
67 67
Thalassemia
Thalassemia
Alpha and beta thalassemia
Alpha and beta thalassemia
Genetic mutations
Genetic mutations
Occur in areas where malaria was
Occur in areas where malaria was
endemic
endemic
68 68
Alpha Thalassemia
Alpha Thalassemia
China, Philippines
China, Philippines
Malaysia, Thailand,
Malaysia, Thailand,
Cambodia, Laos,
Cambodia, Laos,
Vietnam, Burma,
Vietnam, Burma,
India, Sri Lanka,
India, Sri Lanka,
African and American
African and American
blacks
blacks
69 69
Alpha Thalassemia
Alpha Thalassemia
Silent carrier
Silent carrier
Thalassemia minor
Thalassemia minor
Hemoglobin H disease
Hemoglobin H disease
Hydrops fetalis
Hydrops fetalis

Incompatible with life


Incompatible with life
70 70
Silent Carrier
Silent Carrier
3 alpha globulin genes, 1 alpha globulin
3 alpha globulin genes, 1 alpha globulin
gene affected
gene affected
Normal hematocrit
Normal hematocrit
No clinical or hemoglobin abnormality
No clinical or hemoglobin abnormality
Can only be detected by DNA studies
Can only be detected by DNA studies
No treatment
No treatment
71 71
Alpha Thalassemia Minor (Trait)
Alpha Thalassemia Minor (Trait)
2 alpha globulin genes normal
2 alpha globulin genes normal
2 alpha globulin genes affected
2 alpha globulin genes affected
Hct 32
Hct 32
-
-
40%
40%
Hgb normal or decreased
Hgb normal or decreased
RBC normal or increased
RBC normal or increased
MCV below 80
MCV below 80
MCH below 26
MCH below 26
72 72
Alpha Thalassemia Minor
Alpha Thalassemia Minor
Normal hemoglobin electrophoresis
Normal hemoglobin electrophoresis
RBC morphology
RBC morphology

Microcytosis
Microcytosis

Hypochromic
Hypochromic

Aniso/poilokocytosis
Aniso/poilokocytosis
Iron studies normal
Iron studies normal
Remember may have a combination of
Remember may have a combination of
anemias!
anemias!
73 73
Alpha Thalassemia Minor in
Alpha Thalassemia Minor in
Pregnancy
Pregnancy
Non
Non
-
-
black
black

Screen father of the baby


Screen father of the baby
Black population
Black population

Alpha thalassemia major not possible


Alpha thalassemia major not possible
Consult for maternal Hb below 10
Consult for maternal Hb below 10
If present in both parents
If present in both parents

Refer for genetic counseling


Refer for genetic counseling
74 74
Hemoglobin H Disease
Hemoglobin H Disease
One alpha globulin
One alpha globulin
gene normal
gene normal
Three alpha globulin
Three alpha globulin
genes affected
genes affected
Hct 22
Hct 22
-
-
32
32
Hgb 7
Hgb 7
-
-
10
10
MCV <26
MCV <26
MCH<80
MCH<80
Reticulocytosis
Reticulocytosis

5
5
-
-
10%
10%
Microcytosis
Microcytosis
Hypochromia
Hypochromia
Targeting
Targeting
Misshapen red cells
Misshapen red cells
Hgb electrophoresis
Hgb electrophoresis

5
5
-
-
30% Hgb H
30% Hgb H
75 75
Symptoms of Hb H Disease
Symptoms of Hb H Disease
Hepatosplenomegaly
Hepatosplenomegaly
Gallstones
Gallstones
Transfusion
Transfusion
-
-
dependent
dependent
Milder in blacks
Milder in blacks
Anemia worse during pregnancy
Anemia worse during pregnancy
Refer to physician
Refer to physician
Counseling needed
Counseling needed
76 76
Alpha Thalassemia Major
Alpha Thalassemia Major
No alpha globin
No alpha globin
genes are normal
genes are normal
Hydrops fetalis
Hydrops fetalis
present
present
Does not survive
Does not survive
77 77
Beta Thalassemia
Beta Thalassemia
Point mutations rather than large deletions
Point mutations rather than large deletions
Beta0 or Beta+
Beta0 or Beta+
Alpha chains unstable
Alpha chains unstable
People of Mediterranean origin
People of Mediterranean origin

Greeks 1:10
Greeks 1:10

Italians 1:10
Italians 1:10

Asians 1:25
Asians 1:25

American blacks 1:50


American blacks 1:50
78 78
Beta Thalassemia
Beta Thalassemia
Thalassemia major
Thalassemia major

Homozygous B0 or B+
Homozygous B0 or B+

<10% Hgb A
<10% Hgb A
Thalassemia
Thalassemia
intermedia
intermedia

Mild Homozygous B+
Mild Homozygous B+

< 30% Hgb A


< 30% Hgb A
Thalassemia minor
Thalassemia minor

Heterozygous B0
Heterozygous B0

Heterozygous B+
Heterozygous B+

80
80
-
-
95% Hgb A
95% Hgb A
79 79
Thalassemia Major
Thalassemia Major
Severe hemolytic anemia
Severe hemolytic anemia
Regular transfusion program
Regular transfusion program
Iron overload (hemosiderosis) common
Iron overload (hemosiderosis) common
Shortened life span
Shortened life span
80 80
Thalassemia Intermedia
Thalassemia Intermedia
Blacks may have milder clinical course
Blacks may have milder clinical course
Refer to physician for care
Refer to physician for care
81 81
Thalassemia Minor
Thalassemia Minor
Heterozygotic
Heterozygotic
Lifelong microcytic,
Lifelong microcytic,
hypochromic anemia
hypochromic anemia
Severe anemia
Severe anemia
unusual
unusual
May be asymptomatic
May be asymptomatic
Splenomegaly?
Splenomegaly?
82 82
Thalassemia Minor
Thalassemia Minor
MCV<80
MCV<80
MCH<26
MCH<26
Abnormal peripheral smear
Abnormal peripheral smear
Elevated Hgb F?
Elevated Hgb F?
No treatment needed
No treatment needed
83 83
Thalassemia Minor
Thalassemia Minor
If pregnant, screen father of baby
If pregnant, screen father of baby
Genetic referral if father has
Genetic referral if father has
hemoglobinopathy
hemoglobinopathy
If coexistent iron deficiency
If coexistent iron deficiency

Treat according to protocol


Treat according to protocol
84 84
Sideroblastic Anemias
Sideroblastic Anemias

Sidero is Greek for Iron


Sidero is Greek for Iron
Blast is an immature cell
Blast is an immature cell
RBCs without Iron
RBCs without Iron
85 85
Sideroblastic Anemias
Sideroblastic Anemias
Can not incorporate iron into RBC
Can not incorporate iron into RBC
Lack enzyme
Lack enzyme
Genetic, idiopathic, or acquired
Genetic, idiopathic, or acquired

Drugs or Toxins
Drugs or Toxins
Ringed sideroblasts present in marrow
Ringed sideroblasts present in marrow
(Nucleated, immature RBC with iron granules)
(Nucleated, immature RBC with iron granules)
Hgb 6
Hgb 6
-
-
10
10
Microcytic, normochromic or normocytic,
Microcytic, normochromic or normocytic,
normochromic
normochromic
86 86
B
B
12
12
and Folate Deficiency
and Folate Deficiency
Macrocytic Anemias
Macrocytic Anemias
87 87
Vitamin B
Vitamin B
12
12
Only source is diet
Only source is diet
3
3
-
-
5 years before deficiency apparent
5 years before deficiency apparent

Diet deficiency seen only in vegans


Diet deficiency seen only in vegans
Bound to intrinsic factor
Bound to intrinsic factor
Transported to plasma
Transported to plasma
Transcobalamin II needed to reach cells
Transcobalamin II needed to reach cells
88 88
Vitamin B
Vitamin B
12
12
Deficiency
Deficiency
Decreased production
Decreased production
of intrinsic factor
of intrinsic factor

Pernicious anemia
Pernicious anemia

Gastrectomy
Gastrectomy
89 89
Vitamin B
Vitamin B
12
12
Deficiency
Deficiency
Decreased absorption of B
Decreased absorption of B
-
-
12
12

Fish tapeworm
Fish tapeworm

Blind loop syndrome


Blind loop syndrome

Surgical resection
Surgical resection

Cohn's disease
Cohn's disease

Pancreatic deficiency
Pancreatic deficiency
Inadequate intake (rare)
Inadequate intake (rare)
90 90
Clinical Findings
Clinical Findings
Weakness
Weakness
Weight loss
Weight loss
Beefy red tongue
Beefy red tongue
(glossitis)
(glossitis)
Numbness
Numbness
Ataxia
Ataxia
Memory loss
Memory loss
Pallor
Pallor
Paresthesias
Paresthesias
Decrease reflexes
Decrease reflexes
Depression
Depression
Decreased vibration
Decreased vibration
or position sense
or position sense
91 91
Diagnosis
Diagnosis
MCV 110
MCV 110
-
-
140
140
MCV may be normal in presence of
MCV may be normal in presence of
another microcytic anemia
another microcytic anemia
Macro
Macro
-
-
ovalocytes, multi
ovalocytes, multi
-
-
lobed neutrophils
lobed neutrophils
Diagnosed through serum B
Diagnosed through serum B
-
-
12<100 pg/L
12<100 pg/L

Shilling test
Shilling test
Decreased absorption of B
Decreased absorption of B
-
-
12
12
Differentiate from folate deficiency
Differentiate from folate deficiency
92 92
B
B
12
12
Deficiency
Deficiency
Gradual development over 1
Gradual development over 1
-
-
3 years
3 years
Treatment (Cyanocobalamin)
Treatment (Cyanocobalamin)

LD: 100mcg/d IM x 3
LD: 100mcg/d IM x 3
-
-
5 days
5 days

MD: 100mcg IM q2
MD: 100mcg IM q2
-
-
4 weeks
4 weeks
93 93
B
B
12
12
Deficiency
Deficiency
Response rate
Response rate

Reticulocytes and RBCs


Reticulocytes and RBCs
Similar to iron deficiency
Similar to iron deficiency

Neurologic signs and symptoms


Neurologic signs and symptoms
6
6
-
-
12 months (If less than 6 months duration)
12 months (If less than 6 months duration)

Other signs and symptoms


Other signs and symptoms
1
1
-
-
2 weeks
2 weeks
94 94
Folate Deficiency
Folate Deficiency
Clinical findings: similar to B12 deficiency
Clinical findings: similar to B12 deficiency
No neurologic findings
No neurologic findings
Macro
Macro
-
-
ovalocytes
ovalocytes
Hypersegmented neutrophils
Hypersegmented neutrophils
Normal serum B
Normal serum B
12 12
Reduced folate
Reduced folate
95 95
Folate Deficiency
Folate Deficiency
Daily requirements
Daily requirements

50
50
-
-
100 mcg
100 mcg
Dietary deficiency most common cause
Dietary deficiency most common cause
Diagnosis
Diagnosis

RBC folate test of choice


RBC folate test of choice
Gradual development of anemia
Gradual development of anemia

1
1
-
-
5 months
5 months
Treatment
Treatment

1mg/day po x 2
1mg/day po x 2
-
-
3 weeks
3 weeks
96 96
Causes of Folate Deficiency
Causes of Folate Deficiency
Dietary deficiency
Dietary deficiency
Decrease absorption
Decrease absorption

Topical sprue
Topical sprue

Drugs
Drugs
Phenytoin, Sulfas Phenytoin, Sulfas
97 97
Causes of Folate Deficiency
Causes of Folate Deficiency
Increased requirement
Increased requirement

Chronic hemolytic anemia


Chronic hemolytic anemia

Pregnancy
Pregnancy

Exfoliative skin disease


Exfoliative skin disease
Loss of folate
Loss of folate

Dialysis
Dialysis
Inhibition of reduction to active form
Inhibition of reduction to active form

Methotrexate
Methotrexate
98 98
Other Causes of Macrocytosis
Other Causes of Macrocytosis
HIV treated with zidovudine
HIV treated with zidovudine
Hypothyroidism
Hypothyroidism

Mild macrocytosis
Mild macrocytosis
Alcoholism
Alcoholism

Folate deficiency and liver disease


Folate deficiency and liver disease

Target cells in peripheral blood


Target cells in peripheral blood
99 99
Sickle Cell Trait
Sickle Cell Trait
Autosomal Dominant Anemia
Autosomal Dominant Anemia
100 100
Sickle Cell Trait
Sickle Cell Trait
One gene normal hemoglobin
One gene normal hemoglobin
One gene for hemoglobin S
One gene for hemoglobin S
34
34
-
-
54% hemoglobin S
54% hemoglobin S
Rarely anemic
Rarely anemic
Blacks
Blacks
-
-
8%
8%
Also in Africans, Italians, Indians
Also in Africans, Italians, Indians
101 101
Associated Conditions
Associated Conditions
Bacteruria
Bacteruria
Hematuria
Hematuria
Hyposthenia
Hyposthenia

Diminished strength
Diminished strength
Splenic infarction
Splenic infarction

High altitude
High altitude
102 102
Symptoms
Symptoms
Generally asymptomatic
Generally asymptomatic
History of bladder/kidney infections
History of bladder/kidney infections
May confuse diagnosis of other coexisting
May confuse diagnosis of other coexisting
anemia
anemia
Diagnosed by Hb electrophoresis
Diagnosed by Hb electrophoresis

34
34
-
-
54% Hb S
54% Hb S

Sickledex positive
Sickledex positive

Normal iron studies


Normal iron studies
103 103
Plan of Care
Plan of Care
1.
1.
Screen all black pregnant women
Screen all black pregnant women

If positive for trait, screen father of baby


If positive for trait, screen father of baby
2.
2.
No treatment needed for trait alone
No treatment needed for trait alone
3.
3.
Pregnant women with sickle cell trait
Pregnant women with sickle cell trait

Urinalysis and culture each trimester


Urinalysis and culture each trimester

Educated on S/S UTI


Educated on S/S UTI

Genetic counseling if father has


Genetic counseling if father has
hemoglobinopathy
hemoglobinopathy
104 104
Image acknowledgments:
Black, McKay, Braude,
Jones, & Margesson (2002)
Obstetric and Gynecologic
Dermatology
Pathguy.com
Skinema.com
Med.cornell.edu
Medscape.com
Virtualhospital.com
Obgyn.net
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