Biology of Disease

3. The accompanying figure shows an electrophoresis of Hb from four
   individuals. In sickle cell disease the change at position 6 in the B-globin
   chain is from Glu to Val, and in HbC from Glu to Lys. Individual C is normal,
   with HbA present. What can be said about individuals A, B and D?

X]VeiZg&(/ DISORDERS OF THE BLOOD

W^dad\nd[Y^hZVhZ

A B C D

Origin

X]VeiZg&(/ DISORDERS OF THE BLOOD

(,+ W^dad\nd[Y^hZVhZ

4. Explain why hereditary persistence of fetal hemoglobin (HbF) does not
   have serious consequences.


5. Indicate in the following table whether the listed hematological
   indices are not affected (NA), decreased (D) or increased (I) in iron
   deficiency and pernicious anemias.

Index iron deficiency anemia pernicious anemia

PCV

MCV

MCH

MCHC

6. Elsa went to her doctor complaining of pain in her lower spine. The
   doctor noticed some deformity of her skull and facial bones. A CT scan
   of the bones of her spine showed an area of spinal cord compression
   in the upper lumbar region. Blood tests indicated severe anemia and
   thalassemia was diagnosed. Explain these findings and comment on
   possible treatment.


7. Explain the role of platelets in blood clotting.


8. Simon, a nine-month-old male infant, was brought to the Accident
   & Emergency Department with a painful, expanding mass in his left
   thigh. His mother has noticed this a few hours after he had fallen
   down on a hard floor, and the child was in considerable pain. An
   X-ray revealed that there were no fractures, but the soft swelling was
   shown to be a hematoma caused by bleeding into the tissues. On
   questioning, Simon’s mother said that soon after he began to crawl
   Simon’s knees became painful and swollen. The pediatrician suspected
   a coagulation disorder. Tests showed that Simon had only about
   5% of the normal level of plasma Factor VIII. What is the most likely
   diagnosis and treatment?