Biology of Disease

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CASE STUDY 13.1 continued

Questions

(a) What is the most likely diagnosis?

(b) Outline the sort of treatment that would be

appropriate.

(c) What is the chance of the parents’ next child having

this disease?

CASE STUDY 13.2

A 57-year-old man, Bill, lost weight and complained of

weakness, shortness of breath, sore tongue and had

difficulties with swallowing. On referral it was found

that his skin was yellowish and his tongue was shiny and

smooth. He said that he had gradually lost his appetite

and recently only taken liquid foods in order to avoid

abdominal pain. He also mentioned numbness and

tingling of the hands. His temperature was a little above

normal at 39oC. Blood index measurements give the

following data (references ranges in parentheses):

Erythrocyte count 3.7 x 10^12 dm–3 (4.4 to 5.9 x 10^12 )

Total hemoglobin 82 g dm–3 (135 g dm–3)

PCV 37% (40–52%)

A blood smear showed large erythrocytes of unusual

shape. His bone marrow sample contained basophilic

megaloblasts. Gastric secretion was small in volume,

0.3 dm^3 in 24 h compared with the normal 2.5 dm^3 and

contained little hydrochloric acid.

Questions

(a) Calculate the MCV, MCH and MCHC.

(b) What is the most likely diagnosis and its most

probable cause?

(c) Suggest plausible reasons for the gastric problems.

(d) How should this patient be treated?

CASE STUDY 13.3

Alan has sickle cell anemia and has frequent sickling crises.

His brother, Michael, is known to have sickle cell trait.

However, their sister Liza seems to be normal and does

not show any symptoms. However, she is about to marry

and wants to start a family. She is therefore concerned to

know her sickle cell status. A Hb electrophoresis on her

blood was carried out and showed that she had 53% HbA,

46% HbS and 1% HbF.

Questions

(a) What molecular biology test could be carried out to

confirm Liza’s Hb distribution?

(b) If Liza’s proposed marriage partner was hetero-

zygous for sickle cell anemia, what are the chances

that their first child would have sickle cell anemia?

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