Patho Flashcards
Hereditary Spherocytosis Inherited defects in
more than 50 in the
red cell membrane skeleton (ankyrin spectrin 4.1 4.2 band 3)
Ankyrin ank1
Hereditary spherocytosis is ? defect and ? hemolysis
intracorpuscular
Extravascular
Morphology spherocytes
are dark red and lack central pallor
Erythroid hyperplasia
Reticulocytosis
Splenomegaly
Splenomegaly is more common and prominent in ? than in any other form of hemolytic anemia
hereditaryspherocytosis
Clinical Features
Hereditary Spherocytosis
• Anemia, splenomegaly, and jaundice
Increased osmotic fragility
Aplastic crises
Complications Hereditary Spherocytosis:
- Gallbladder stones
- Foot and lower leg ulcers
- Aplastic crisis
- Skeletal abnormalities (severe cases)
• Most common familial hemolytic hemoglobinopathy.
Sickle Cell Anemia
NORMAL HUMAN HEMOGLOBINS
• Hemoglobin A (α2 β2): 96% of adult hemoglobin, 5% is composed of
glycosylated Hb A (Hb A1c)
• Hemoglobin F (α2γ2) :
• 75% at birth
• < 5% at 6 months
• < 1% in adults
• Hemoglobin A2 (α2δ 2): 3% of adult hemoglobin
Salmonella osteomyelitis.
Sickle cell anemia
qualitative mutation.
Sickle Cell Anemia
by a mutation in β-globin that creates sickle hemoglobin
(HbS
Hemoglobinopathies
Sickle Cell Anemia
2- Thalassemia
Sickle Cell Anemia Physiologic consequences
Ca influx, efflux of K and water,
↑ MCHC
Accelerated red cell
destruction (life span
decreased from a normal 120 days to 10-12 days).
Inactivates NO→ vessels narrowing
Vaso-occlusive phenomena
Major pathologic consequences
Sickle Cell Anemia
Chronic moderately severe hemolytic anemia
Ischemic manifestations (microvasculature obstruction
Crises:
1.Vaso-occlusive or painful crises
2.Aplastic crises
3.Hemolytic crises
• Increased risk of infections.
autosplenectomy
Sickle Cell Anemia
Morphology of sickle cell anemia.
The irreversible sickled red cells would appear elongated, spindled, or boat-shaped.
Fatty changes in the heart, liver, and renal tubules.
We will try to make RBCs. So,
1extramodulary hematopoiesis may appear in liver and spleen.
2Compensatory hyperplasia. Bone resorption and secondary new bone formation crewcut in radiographs. Spleenomegaly in children.
in adults Chronic splenic erythrostasis produces autosplenectomy.
Thrombosis and infarction can affect any organ.
Hemolytic anemia, hemosidrosis, pigmented gallstones
