A 23 year old woman came to her physician for prenatal car two months after her last period. She had no complaints. Phys

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A 23 year old woman came to her physician for prenatal car two
months after her last period. She had no complaints. Physical
examination revealed an enlarged uterus estimated at eight weeks
gestation. Lab Data: Hematocrit = 32%; Hgb = 10.5%; RBC = 5.25
million/ pL; smear revealed hypochromia and microcytosis, shift
cells and anisocytosis and poikilocytosis.
3. What type of anemia is most likely?
4. What is the most likely cause of this anemia? What further
history would you need to help you make a choice? The physician
prescribed oral iron and asked her to return in four weeks. Her
hematocrit was unchanged at that time.
5. How much should the hematocrit rise after four weeks of iron
treatment?
6. What are the most common reasons for failure to respond to
iron therapy? The physician obtained the following lab data: Serum
iron / TIBC= 170/380 ug/dL; retics 1.8%; bone marrow erythroid
hyperplasia with M:E ratio of 1.5:1; stool guaiacs ×3 were
negative. The hemoglobin and other red cell values were
unchanged.
7. What is your tentative diagnosis now?
8. How would you confirm your diagnosis?
The patient's iron therapy was discontinued and she uneventfully
delivered a normal infant at 40 weeks gestation. The infant's
hematocrit was normal at birth. At age six months, however, the
infant began to become progressively irritable and listless.
Examination at eight months of age revealed splenomegaly and
pallor, HCT = 16% and hemoglobin = 4.8 g/dL. The peripheral smear
showed extreme hyperchromia, poikilocytosis, nucleated cells and
many target cells.
9. What is your diagnosis? How would you prove it?
10. Why wasn't the anemia manifest in the infant at birth?
The child required frequent transfusions to maintain his
hematocrit at 18% to 20%. His activities were limited. At age 20,
he was noted to have the onset of heart failure and diabetes
mellitus, and liver function tests were abnormal.
11. What is the cause of the diabetes, cardiac failure and liver
disease in this child?
12. What should the original physician have done when the
diagnosis of beta thalassemia minor was made in the pregnant
mother?
13. Describe in detail the pathophysiologies of beta thalassemia
minor and major.