Congenital Hemolytic Anemia (Eufrosina A. Melendres, MD) Flashcards Preview

OS 216 - Hematology Exam > Congenital Hemolytic Anemia (Eufrosina A. Melendres, MD) > Flashcards

Flashcards in Congenital Hemolytic Anemia (Eufrosina A. Melendres, MD) Deck (68):
1

Enumerate the three common congenital hemolytic anemias.

Hereditary Spherocytosis
Thalassemias
G6PD Deficiency

2

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

RBC Membrane
Hemoglobin
Enzymes

3

Number one cause of anemia in children below 6

Congenital Hemolytic Anemia

4

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

False

It’s the other way around.

5

Treatment for hereditary spherocytosis and elliptocytosis

Splenectomy

6

Examples of disorders with RBC membrane defects

Hereditary Spherocytosis
Heredtiary Elliptocytosis

7

Examples of disorders with hemoglobin defects

Thalassemias
Hemoglobinopathies

8

Examples of disorders with enzyme defects

G6PD Deficiency

9

Most commonly detected hereditary intracorpuscular defect in newborn screening

G6PD Deficiency

10

Examples of acquired disorders involving intracorpuscular defects

Acquired Autoimmune Hemolytic Anemia
Lead Poisoning
Paroxysmal Nocturnal Hemoglobinemia

11

Characteristics of Acquired Autoimmune Hemolytic Anemia

Splenomegaly
IgG-mediated
Responsive to corticosteroids
Blood transfusion is difficult

12

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

Aplastic Anemia

13

Clinical triad for hemolytic anemia

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

14

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

Bilirubin

15

Positive Coomb’s test favors diagnosis of this disease

Autoimmune Hemolytic Anemia

16

Leftward shift in fragility curve favors diagnosis of this disease

Hereditary Spherocytosis

17

Supplement given for Congenital Hemolytic Anemia

Folic acid (NOT IRON)

18

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

True

19

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

False

20

Recommended age range for splenectomy

5 – 9 (earlier if with severe hypersplenism)

21

Consideration to make for splenectomy

All lobes should be removed

22

RBC morphology in Congenital Hemolytic Anemia

Hypochromic
Microcytic
Anisocytosis (size)
Poikilocytosis (shape)

23

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

Schistocytes
Helmet cells

24

Describe the extent of central pallor of a normal RBC

1/3 of the diameter

25

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

True

26

Iron-deficiency Anemia produces these RBC morphologies

Teardrop cells
Pencil cells

27

RBC morphology in Thalassemia

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

28

Differentiate IDA and Thalassemia peripheral blood smears

More reticulocytes in Thalassemia blood smear

29

Normal MCV

80 – 100 fL

30

Normal MCH

27 – 31 pg

31

Normal MCHC

320 – 360 g/L

32

Normal RDW

11 – 16%

33

Describe the red cell indices for hemolytic anemia

MCV decreased
MCH decreased
MCHC normal to increased
RDW increased

34

Good tool to diagnose IDA

Nutritional history

35

Hereditary Spherocytosis is due to defects in these components

Spectrin
Ankyrin

36

Mode of inheritance of hereditary spherocytosis

75% autosomal dominant
25% autosomal recessive

37

T/F: Hereditary spherocytosis predisposes an individual to infection

True

38

Process of RBC membrane loss in Hereditary Spherocytosis

Vesiculation

39

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

True

40

Describe the red cell indices for Hereditary Spherocytosis

MCV normal to slightly decreased
MCH decreased
MCHC increased
RDW increased

41

Describe RBC morphology in Hereditary Spherocytosis

Abnormally small and lack central pallor

42

Test used to diagnose Hereditary Spherocytosis

Osmotic Fragility Test

43

Spherocytes are sequestered in this organ in Hereditary Spherocytosis

Spleen

44

Types of Thalassemia

Alpha Thalassemia
Beta Thalassemia

45

T/F: Thalassemia is a qualitative defect.

False

It is quantitative. Hemoglobinopathies are qualitative.

46

Type of Thalassemia that behaves like Thalassemia Major

HbE-Beta Thalassemia

47

Describe dyserythropoiesis in Thalassemia

Increased production of RBCs that are defective (ineffective erythropoiesis)

48

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

Detection of HbH

49

Describe the beta hemoglobin chain in Beta Thalassemia

Defective via mechanism other than deletion

50

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

Hb H disease (beta 4)

51

Type of Alpha Thalassemia that is incompatible with life

Hydrops Fetalis

52

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

Thalassemia Major or Cooley’s Anemia

53

Mode of inheritance of Thalassemia Major

Autosomal Recessive

54

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

6 months

55

Craniofacial changes associated with Thalassemia Major

Frontal bossing
Maxillary overgrowth
Micrognathia

56

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

True

57

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

Hepatomegaly

58

Test to diagnose Thalassemia Major

Hb Electrophoresis

59

Increase in these types of Hb in Thalassemia Major

HbF
HbA2

60

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

Spikes running perpendicular to surfaces

61

Presentation of Thalassemia Major in the Osmotic Fragility Test

Rightward shift (resistant to hemolysis)

62

When is iron chelation indicated for Thalassemia Major?

Children aged 5 and above to increase Fe excretion

63

Gold standard of oral chelators

Desferrioxamine

64

Types of bone marrow transplantation

Autologous
Allogeneic

65

Mode of inheritance of G6PD Deficiency

X-linked

66

Most common type of G6PD Deficiency

G6PD A-

67

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

Heinz bodies

68

Exposure of infant to this chemical merits consideration of G6PD Deficiency

Naphthalene (moth balls)