Congenital Hemolytic Anemia (Eufrosina A. Melendres, MD)

Question 1

Enumerate the three common congenital hemolytic anemias.

Answer 1

Hereditary Spherocytosis
Thalassemias
G6PD Deficiency

Question 2

Congenital Hemolytic Anemia is an inborn defect in one of what three main components?

Answer 2

RBC Membrane
Hemoglobin
Enzymes

Question 3

Number one cause of anemia in children below 6

Answer 3

Congenital Hemolytic Anemia

Question 4

T/F: Extracorpuscular factors are usually inherited, while intracorpuscular factors are usually hereditary.

Answer 4

False

It’s the other way around.

Question 5

Treatment for hereditary spherocytosis and elliptocytosis

Answer 5

Splenectomy

Question 6

Examples of disorders with RBC membrane defects

Answer 6

Hereditary Spherocytosis

Heredtiary Elliptocytosis

Question 7

Examples of disorders with hemoglobin defects

Answer 7

Thalassemias

Hemoglobinopathies

Question 8

Examples of disorders with enzyme defects

Answer 8

G6PD Deficiency

Question 9

Most commonly detected hereditary intracorpuscular defect in newborn screening

Answer 9

G6PD Deficiency

Question 10

Examples of acquired disorders involving intracorpuscular defects

Answer 10

Acquired Autoimmune Hemolytic Anemia
Lead Poisoning
Paroxysmal Nocturnal Hemoglobinemia

Question 11

Characteristics of Acquired Autoimmune Hemolytic Anemia

Answer 11

Splenomegaly
IgG-mediated
Responsive to corticosteroids
Blood transfusion is difficult

Question 12

Paroxysmal Nocturnal Hemoglobinemia predisposes a person to what other hematologic disorder?

Answer 12

Aplastic Anemia

Question 13

Clinical triad for hemolytic anemia

Answer 13

Pallor or anemia
Jaundice
Splenomegaly (except in newborn and G6PD deficient)

Question 14

Increase in this component in the serum and urine reflects ongoing hemolytic process

Answer 14

Bilirubin

Question 15

Positive Coomb’s test favors diagnosis of this disease

Answer 15

Autoimmune Hemolytic Anemia

Question 16

Leftward shift in fragility curve favors diagnosis of this disease

Answer 16

Hereditary Spherocytosis

Question 17

Supplement given for Congenital Hemolytic Anemia

Answer 17

Folic acid (NOT IRON)

Question 18

T/F: Packed RBCs should only be transfused for patients with symptomatic or pathologic anemia.

Answer 18

True

Question 19

T/F: You can still perform etiologic tests after blood transfusion.

Answer 19

False

Question 20

Recommended age range for splenectomy

Answer 20

5 – 9 (earlier if with severe hypersplenism)

Question 21

Consideration to make for splenectomy

Answer 21

All lobes should be removed

Question 22

RBC morphology in Congenital Hemolytic Anemia

Answer 22

Hypochromic
Microcytic
Anisocytosis (size)
Poikilocytosis (shape)

Question 23

Red cell fragments present in peripheral blood smear of Congenital Hemolytic Anemia

Answer 23

Schistocytes

Helmet cells

Question 24

Describe the extent of central pallor of a normal RBC

Answer 24

1/3 of the diameter

Question 25

T/F: There is increased reticulocytosis and polychromasia in Congenital Hemolytic Anemia

Answer 25

True

Question 26

Iron-deficiency Anemia produces these RBC morphologies

Answer 26

Teardrop cells | Pencil cells

Question 27

RBC morphology in Thalassemia

Answer 27

Hypochromic Microcytic Target cell (3 humps) Fragmented into different shapes

Question 28

Differentiate IDA and Thalassemia peripheral blood smears

Answer 28

More reticulocytes in Thalassemia blood smear

Question 29

Normal MCV

Answer 29

80 – 100 fL

Question 30

Normal MCH

Answer 30

27 – 31 pg

Question 31

Normal MCHC

Answer 31

320 – 360 g/L

Question 32

Normal RDW

Answer 32

11 – 16%

Question 33

Describe the red cell indices for hemolytic anemia

Answer 33

MCV decreased MCH decreased MCHC normal to increased RDW increased

Question 34

Good tool to diagnose IDA

Answer 34

Nutritional history

Question 35

Hereditary Spherocytosis is due to defects in these components

Answer 35

Spectrin | Ankyrin

Question 36

Mode of inheritance of hereditary spherocytosis

Answer 36

75% autosomal dominant | 25% autosomal recessive

Question 37

T/F: Hereditary spherocytosis predisposes an individual to infection

Answer 37

True

Question 38

Process of RBC membrane loss in Hereditary Spherocytosis

Answer 38

Vesiculation

Question 39

T/F: There is presence of pigmented gallstomes in Hereditary Spherocytosis

Answer 39

True

Question 40

Describe the red cell indices for Hereditary Spherocytosis

Answer 40

MCV normal to slightly decreased MCH decreased MCHC increased RDW increased

Question 41

Describe RBC morphology in Hereditary Spherocytosis

Answer 41

Abnormally small and lack central pallor

Question 42

Test used to diagnose Hereditary Spherocytosis

Answer 42

Osmotic Fragility Test

Question 43

Spherocytes are sequestered in this organ in Hereditary Spherocytosis

Answer 43

Spleen

Question 44

Types of Thalassemia

Answer 44

Alpha Thalassemia | Beta Thalassemia

Question 45

T/F: Thalassemia is a qualitative defect.

Answer 45

False It is quantitative. Hemoglobinopathies are qualitative.

Question 46

Type of Thalassemia that behaves like Thalassemia Major

Answer 46

HbE-Beta Thalassemia

Question 47

Describe dyserythropoiesis in Thalassemia

Answer 47

Increased production of RBCs that are defective (ineffective erythropoiesis)

Question 48

New expanded newborn screening process includes this, which allows early detection of Thalassemia

Answer 48

Detection of HbH

Question 49

Describe the beta hemoglobin chain in Beta Thalassemia

Answer 49

Defective via mechanism other than deletion

Question 50

Type of Alpha Thalassemia where three alleles are lost and displaying the clinical triad

Answer 50

Hb H disease (beta 4)

Question 51

Type of Alpha Thalassemia that is incompatible with life

Answer 51

Hydrops Fetalis

Question 52

Type of Beta Thalassemia with stormy clinical course and involving multiple transfusions

Answer 52

Thalassemia Major or Cooley’s Anemia

Question 53

Mode of inheritance of Thalassemia Major

Answer 53

Autosomal Recessive

Question 54

Shift from fetal Hb to Hb A occurs highest at what age?

Answer 54

6 months

Question 55

Craniofacial changes associated with Thalassemia Major

Answer 55

Frontal bossing Maxillary overgrowth Micrognathia

Question 56

T/F: There is growth stunting in Thalassemia Major patients.

Answer 56

True

Question 57

On top of the clinical triad, this is also present in Thalassemia Major

Answer 57

Hepatomegaly

Question 58

Test to diagnose Thalassemia Major

Answer 58

Hb Electrophoresis

Question 59

Increase in these types of Hb in Thalassemia Major

Answer 59

HbF | HbA2

Question 60

Describe hair-on-end appearance on skull X-ray in Thalassemia Major

Answer 60

Spikes running perpendicular to surfaces

Question 61

Presentation of Thalassemia Major in the Osmotic Fragility Test

Answer 61

Rightward shift (resistant to hemolysis)

Question 62

When is iron chelation indicated for Thalassemia Major?

Answer 62

Children aged 5 and above to increase Fe excretion

Question 63

Gold standard of oral chelators

Answer 63

Desferrioxamine

Question 64

Types of bone marrow transplantation

Answer 64

Autologous | Allogeneic

Question 65

Mode of inheritance of G6PD Deficiency

Answer 65

X-linked

Question 66

Most common type of G6PD Deficiency

Answer 66

G6PD A-

Question 67

Dots attached to RBC membrane that reduce cell flexibility and increase susceptibility to destruction by splenic macrophages

Answer 67

Heinz bodies

Question 68

Exposure of infant to this chemical merits consideration of G6PD Deficiency

Answer 68

Naphthalene (moth balls)