Flashcards in Congenital Hemolytic Anemia (Eufrosina A. Melendres, MD) Deck (68)
Enumerate the three common congenital hemolytic anemias.
Congenital Hemolytic Anemia is an inborn defect in one of what three main components?
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.
It’s the other way around.
Treatment for hereditary spherocytosis and elliptocytosis
Examples of disorders with RBC membrane defects
Examples of disorders with hemoglobin defects
Examples of disorders with enzyme defects
Most commonly detected hereditary intracorpuscular defect in newborn screening
Examples of acquired disorders involving intracorpuscular defects
Acquired Autoimmune Hemolytic Anemia
Paroxysmal Nocturnal Hemoglobinemia
Characteristics of Acquired Autoimmune Hemolytic Anemia
Responsive to corticosteroids
Blood transfusion is difficult
Paroxysmal Nocturnal Hemoglobinemia predisposes a person to what other hematologic disorder?
Clinical triad for hemolytic anemia
Pallor or anemia
Splenomegaly (except in newborn and G6PD deficient)
Increase in this component in the serum and urine reflects ongoing hemolytic process
Positive Coomb’s test favors diagnosis of this disease
Autoimmune Hemolytic Anemia
Leftward shift in fragility curve favors diagnosis of this disease
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.
T/F: You can still perform etiologic tests after blood transfusion.
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
Red cell fragments present in peripheral blood smear of Congenital Hemolytic Anemia
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
Iron-deficiency Anemia produces these RBC morphologies
RBC morphology in Thalassemia
Target cell (3 humps)
Fragmented into different shapes
Differentiate IDA and Thalassemia peripheral blood smears
More reticulocytes in Thalassemia blood smear
80 – 100 fL
27 – 31 pg
320 – 360 g/L
11 – 16%
Describe the red cell indices for hemolytic anemia
MCHC normal to increased
Good tool to diagnose IDA
Hereditary Spherocytosis is due to defects in these components
Mode of inheritance of hereditary spherocytosis
75% autosomal dominant
25% autosomal recessive
T/F: Hereditary spherocytosis predisposes an individual to infection
Process of RBC membrane loss in Hereditary Spherocytosis
T/F: There is presence of pigmented gallstomes in Hereditary Spherocytosis
Describe the red cell indices for Hereditary Spherocytosis
MCV normal to slightly decreased
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
Types of Thalassemia
T/F: Thalassemia is a qualitative defect.
It is quantitative. Hemoglobinopathies are qualitative.
Type of Thalassemia that behaves like Thalassemia Major
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
Type of Beta Thalassemia with stormy clinical course and involving multiple transfusions
Thalassemia Major or Cooley’s Anemia
Mode of inheritance of Thalassemia Major
Shift from fetal Hb to Hb A occurs highest at what age?
Craniofacial changes associated with Thalassemia Major
T/F: There is growth stunting in Thalassemia Major patients.
On top of the clinical triad, this is also present in Thalassemia Major
Test to diagnose Thalassemia Major
Increase in these types of Hb in Thalassemia Major
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
Types of bone marrow transplantation
Mode of inheritance of G6PD Deficiency
Most common type of G6PD Deficiency
Dots attached to RBC membrane that reduce cell flexibility and increase susceptibility to destruction by splenic macrophages