CASE STUDY DISCUSSIONS*(- W^dad\nd[Y^hZVhZ
Blood transfusions can help but these will lead to iron overload unless other
means, such as iron chelating drugs, are used to reduce the iron load. Other
treatments are available which aim to increase the amount of HbF in the
blood. The chance of a further child having the homozygous condition is one
in four, and the chance of their being a heterozygote one in two.DISCUSSION OF CASE STUDY 13.2
The MCV is 100 fdm^3 (reference 76–96 fdm^3 ) therefore high; MCH is 22.2 pg
cell–1 (26–33 pg cell–1) and low; the MCHC is 222 g dm–3 cells (310–350 g
dm–3 cells) and also low. The high MCV and low primary indices indicate
a macrocytic anemia. The presence of basophilic megaloblasts suggests
pernicious anemia from lack of vitamin B 12 or folate. This is probably due
to atrophy of the gastric mucosa resulting in a lack of the glycoprotein,
intrinsic factor, which enables vitamin B 12 to be absorbed and also protects
the vitamin from destruction in the gastrointestinal system. Hence Bill is
vitamin B 12 deficient and cannot therefore make DNA and consequently new
erythrocytes (failure of erythropoiesis). The sore tongue, difficulties with
swallowing, and epigastric pain are possibly related to an abnormality in the
upper gastrointestinal system. A course of injections of vitamin B 12 should
lead a to complete remission of the condition and restoration of a normal
blood picture.DISCUSSION OF CASE STUDY 13.3
DNA analysis could be carried out (Figure 13.23). The chances of any of
their children being homozygous for HbS would be 25%, and 50% for the
heterozygous state.CHAPTER 14
DISCUSSION OF CASE STUDY 14.1
Jim has hypercholesterolemia. This is due to hypothyroidism as indicated
by the high TSH concentration (Chapter 7). The hypercholesterolemia is
corrected by treatment of the underlying hypothyroidism.DISCUSSION OF CASE STUDY 14.2
The modest rise in CK was probably due to the heavy fall, resulting in
bruising and damage to muscle tissues, which then fell sharply. In myocardial
infarctions, AST normally peaks 10 to 100-fold after 20–30 h and then declines
to normal levels within two to six days, but this did not occur here. There is
therefore no evidence for a myocardial infarction.DISCUSSION OF CASE STUDY 14.3
Roger has high LDL cholesterol and together with clinical features of corneal
arcus and xanthomata, which are diagnostic of familial hypercholesterolemia.
Roger should be treated with lipid lowering drugs as well as a modified diet.CHAPTER 15
DISCUSSION OF CASE STUDY 15.1
Christine is suffering from PKU hence the high serum concentration
of phenylalanine. She should be placed on a diet low in phenylalanine.
However, this diet must contain adequate amounts of tyrosine. Phenylalanine
is broken down into several metabolites and these are lost in the urine and
produce the characteristic odor. If Christine is not treated immediately, she