Congenital Hemolytic Anemia (Eufrosina A. Melendres, MD) Flashcards
Enumerate the three common congenital hemolytic anemias.
Hereditary Spherocytosis
Thalassemias
G6PD Deficiency
Congenital Hemolytic Anemia is an inborn defect in one of what three main components?
RBC Membrane
Hemoglobin
Enzymes
Number one cause of anemia in children below 6
Congenital Hemolytic Anemia
T/F: Extracorpuscular factors are usually inherited, while intracorpuscular factors are usually hereditary.
False
It’s the other way around.
Treatment for hereditary spherocytosis and elliptocytosis
Splenectomy
Examples of disorders with RBC membrane defects
Hereditary Spherocytosis
Heredtiary Elliptocytosis
Examples of disorders with hemoglobin defects
Thalassemias
Hemoglobinopathies
Examples of disorders with enzyme defects
G6PD Deficiency
Most commonly detected hereditary intracorpuscular defect in newborn screening
G6PD Deficiency
Examples of acquired disorders involving intracorpuscular defects
Acquired Autoimmune Hemolytic Anemia
Lead Poisoning
Paroxysmal Nocturnal Hemoglobinemia
Characteristics of Acquired Autoimmune Hemolytic Anemia
Splenomegaly
IgG-mediated
Responsive to corticosteroids
Blood transfusion is difficult
Paroxysmal Nocturnal Hemoglobinemia predisposes a person to what other hematologic disorder?
Aplastic Anemia
Clinical triad for hemolytic anemia
Pallor or anemia
Jaundice
Splenomegaly (except in newborn and G6PD deficient)
Increase in this component in the serum and urine reflects ongoing hemolytic process
Bilirubin
Positive Coomb’s test favors diagnosis of this disease
Autoimmune Hemolytic Anemia
Leftward shift in fragility curve favors diagnosis of this disease
Hereditary Spherocytosis
Supplement given for Congenital Hemolytic Anemia
Folic acid (NOT IRON)
T/F: Packed RBCs should only be transfused for patients with symptomatic or pathologic anemia.
True
T/F: You can still perform etiologic tests after blood transfusion.
False
Recommended age range for splenectomy
5 – 9 (earlier if with severe hypersplenism)
Consideration to make for splenectomy
All lobes should be removed
RBC morphology in Congenital Hemolytic Anemia
Hypochromic
Microcytic
Anisocytosis (size)
Poikilocytosis (shape)
Red cell fragments present in peripheral blood smear of Congenital Hemolytic Anemia
Schistocytes
Helmet cells
Describe the extent of central pallor of a normal RBC
1/3 of the diameter
T/F: There is increased reticulocytosis and polychromasia in Congenital Hemolytic Anemia
True
Iron-deficiency Anemia produces these RBC morphologies
Teardrop cells
Pencil cells
RBC morphology in Thalassemia
Hypochromic
Microcytic
Target cell (3 humps)
Fragmented into different shapes
Differentiate IDA and Thalassemia peripheral blood smears
More reticulocytes in Thalassemia blood smear
Normal MCV
80 – 100 fL
Normal MCH
27 – 31 pg
Normal MCHC
320 – 360 g/L
Normal RDW
11 – 16%
Describe the red cell indices for hemolytic anemia
MCV decreased
MCH decreased
MCHC normal to increased
RDW increased
Good tool to diagnose IDA
Nutritional history
Hereditary Spherocytosis is due to defects in these components
Spectrin
Ankyrin
Mode of inheritance of hereditary spherocytosis
75% autosomal dominant
25% autosomal recessive
T/F: Hereditary spherocytosis predisposes an individual to infection
True
Process of RBC membrane loss in Hereditary Spherocytosis
Vesiculation
T/F: There is presence of pigmented gallstomes in Hereditary Spherocytosis
True
Describe the red cell indices for Hereditary Spherocytosis
MCV normal to slightly decreased
MCH decreased
MCHC increased
RDW increased
Describe RBC morphology in Hereditary Spherocytosis
Abnormally small and lack central pallor
Test used to diagnose Hereditary Spherocytosis
Osmotic Fragility Test
Spherocytes are sequestered in this organ in Hereditary Spherocytosis
Spleen
Types of Thalassemia
Alpha Thalassemia
Beta Thalassemia
T/F: Thalassemia is a qualitative defect.
False
It is quantitative. Hemoglobinopathies are qualitative.
Type of Thalassemia that behaves like Thalassemia Major
HbE-Beta Thalassemia
Describe dyserythropoiesis in Thalassemia
Increased production of RBCs that are defective (ineffective erythropoiesis)
New expanded newborn screening process includes this, which allows early detection of Thalassemia
Detection of HbH
Describe the beta hemoglobin chain in Beta Thalassemia
Defective via mechanism other than deletion
Type of Alpha Thalassemia where three alleles are lost and displaying the clinical triad
Hb H disease (beta 4)
Type of Alpha Thalassemia that is incompatible with life
Hydrops Fetalis
Type of Beta Thalassemia with stormy clinical course and involving multiple transfusions
Thalassemia Major or Cooley’s Anemia
Mode of inheritance of Thalassemia Major
Autosomal Recessive
Shift from fetal Hb to Hb A occurs highest at what age?
6 months
Craniofacial changes associated with Thalassemia Major
Frontal bossing
Maxillary overgrowth
Micrognathia
T/F: There is growth stunting in Thalassemia Major patients.
True
On top of the clinical triad, this is also present in Thalassemia Major
Hepatomegaly
Test to diagnose Thalassemia Major
Hb Electrophoresis
Increase in these types of Hb in Thalassemia Major
HbF
HbA2
Describe hair-on-end appearance on skull X-ray in Thalassemia Major
Spikes running perpendicular to surfaces
Presentation of Thalassemia Major in the Osmotic Fragility Test
Rightward shift (resistant to hemolysis)
When is iron chelation indicated for Thalassemia Major?
Children aged 5 and above to increase Fe excretion
Gold standard of oral chelators
Desferrioxamine
Types of bone marrow transplantation
Autologous
Allogeneic
Mode of inheritance of G6PD Deficiency
X-linked
Most common type of G6PD Deficiency
G6PD A-
Dots attached to RBC membrane that reduce cell flexibility and increase susceptibility to destruction by splenic macrophages
Heinz bodies
Exposure of infant to this chemical merits consideration of G6PD Deficiency
Naphthalene (moth balls)
