(1) Patient: 40-year-old male complains of fatigue, as well as numbness and ting

Question

(1) Patient: 40-year-old male complains of fatigue, as well as numbness and tingling sensations in fingers and toes.

CBC results:

WBC: 3.9 X109/L

RBC: 3 X1012/L

HGB: 11 g/dL

HCT: 35%

MCV: 126 fL

MCH: 40 pg

MCHC: 32.7 g/dL

RDW: 21.2

PLT: 148 X109/L

RBC morphology: macro-ovalocytes (3+), Howell-Jolly bodies observed

Neutrophil morphology: significant hypersegmented neutrophils

MMA: elevated

Homocysteine: elevated

(A) What is a likely diagnosis? Explain

(B) What kinds of follow-up tests should be done to further determine the underlying cause? Explain

(2) Patient: 6-month-old infant; baby is lethargic and pale.

CBC results:

WBC: 10 X109/L

RBC: 1.2 X1012/L

HGB: 6 g/dL (increased HbF)

PLT: 200 X109/L

Serum iron: slightly above normal

Serum ferritin: slightly above normal

% saturation: 100%

RBC morphology: normocytic

Neutrophil morphology: normal

MMA: normal

Homocysteine: normal

(A) Name two possible diagnoses that are consistent with these CBC results. Explain.

(B) What tests should be performed to distinguish between these two different diagnoses? Explain

(3) A 60-year-old male presents with the following physical characteristics: fatigue, jaundice, slight splenomegaly.

CBC results:

WBC: 4.2 X109/L

RBC: 4 X1012/L

HGB: 12 g/dL

PLT: 145 X109/L

RBC morphology: normochromic, slightly macrocytic; some stomatocytes observed

Neutrophil morphology: normal morphology

MMA: normal

Homocysteine: slightly increased

(A) What is a likely diagnosis? Explain

(B) What other specific tests should be done to confirm the diagnosis?

(C) What kinds of life-style questions would be appropriate to ask this patient?

(4) Patient: 16 year-old female complaining of weakness, fatigue, recurring fevers and easy bruising.

CBC results:

WBC: 1.3 X109/L

RBC: 2.3 X1012/L

HGB: 6.8 g/dL

HCT: 24%

MCV: 98 fL

PLT: 8 X109/L

RBC morphology: normochromic, slightly macrocytic

Neutrophil morphology: normal, but immature band neutrophils also present

(A) What is a possible diagnosis? Explain.

(B) What would you expect a bone preparation to indicate? (What kinds of cells predominate in the bone marrow of this patient?)

(C) Describe some of the possible underlying causes of this ailment.

Explanation / Answer

1) Patient 1 (40 year-old male): As we can see from the CBC reports, the patient shows an adequate amount of WBC's, however, the RBC count is low (1.2 x 1012/L) as compared to normal RBC count which is 4.7- 6.1 x 1012/L for a normal adult male. Also, we notice that the haemoglobin levels and hematocrit are lower than the normal levels, while MCV and MCH are elevated. We can also see the abnormal morphology of RBC's with the presence of Howell Jolly bodies. All of these with elevated methylmalonic acid and homocysteine points out to a condition known as Megaloblastic anaemia. This condition arises due to an impairment in the DNA synthesis which occurs during red blood cell production. To further determine the cause of such a condition, additional tests would have to be ordered such as to ascertain if the patient has Vitamin B12 deficiency or folic acid deficiency, due to which such a condition has arisen.

2) Patient 2 (6 month old infant): In this case, we see that the patient shows elevated serum iron and serum ferritin levels with a high percentage of saturation. We also see that the RBC morphology is normocytic, therefore eliminating the chance of thalassemia. However, one of the probable diagnosis would be Hemochromatosis, which is a condition that is characterized by liver disease. Although, this would have to be confirmed by testing for mutations in the hemochromatosis gene (HFE).

3) Patient 3 (60 year old male): The CBC reports of this patient reveal the presence of stomatocytes with slightly elevated homocysteine levels. We can also see that the patient has jaundice and slight spleenomegaly. So the most likely diagnosis would be chronic liver disease. As this condition is associated with the above symptoms such as jaundice, spleenomegaly and the presence of stomatocytes in the peripheral blood smear in addition to a reduction in platelet count. However, the diagnosis would have to be confirmed by performing liver function tests, namely; serum aspartate transaminase (AST) and serum alanine transaminase (ALT), alkaline phosphatase and serum bilirubin and serum albumin. Life-style questions would include if the patients consumes alcohol and what his diet is comprised of.

4) Patient 4 (16 year old female): As is evident from this patient's CBC reports, the RBC, WBC and platelet counts are low or there exists cytopenia. We also see that the patient shows frequent bruising and fevers. All of these symptoms are indicative of a condition called Aplastic anemia. This is a disease, wherein the bone marrow is unable to replace the dying cells and therefore there is a reduction in the number of blood cells. A bone marrow biopsy will reveal a hypocellular marrow, due to low number of all three blood cell types. The neutrophil count may vary depending upon the severity of the condition. Some dyserythropoeisis with megaloblastosis may also be observed.

Aplastic anemia is caused due to damage to the stem cells in the bone marrow which are responsible for blood cell production. Some of the causes that may lead to such a condition include, exposure to toxic chemicals, chemotherapy, viral infections and autoimmune disorders. Although rarely it may be caused due to Fanconi anemia.

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