Haematology Module 3

A 50-year-old man is evaluated for impotence. His wife states that he has had progressive loss of interest in sex, personality change, and fatigue for 6 months. He has always been obese but has gained 25 lb in the past year since he discontinued smoking, after 30 pack-years.

The patient has moved to a basement bedroom so that his wife and children can sleep without being awakened by his snoring. He claims to sleep soundly yet awakens feeling tired; he frequently falls asleep while watching TV or reading the paper and has occasionally even fallen asleep at the dinner table.

He denies feelings of depression and complains only of feeling tired.

Physical examination shows the following: BP, 140/80; P, 92; T, 37.0 C; wt, 265 lb. Office oximetry shows Sao2 to be 92% at rest and following a walk in the hallway. Except for obesity, the physical examination is normal.

Laboratory findings are as follows:

• Hb, 185 g/L
• HCT 0.55
• WBC, 4.6 x 10⁹/l with normal differential
• platelets 275 x 10⁹/l
• peripheral blood smear
• normal Na+ 142
• K+, 4.2
• Cr, 1.0
• Hb P50 normal
• erythropoietin 55

Which of the following is the most likely cause of the erythrocytosis in this patient?

A 75-year-old woman has been treated for polycythemia vera for 10 years with phlebotomy and hydroxyurea. She has not required phlebotomy for 4 years, and the dose of hydroxyurea has been gradually reduced because of cytopenia. The hydroxyurea was discontinued 3 weeks ago. Physical examination reveals pallor and an enlarged spleen, palpable 12 cm below the left costal margin.

Laboratory findings are as follows:

• Hb, 95 g/L
• HCT, 0.25
• WBC, 2.2 x 10⁹/l
• platelets, 550 x 10⁹/l
• blood smear, normal
• Na+, 140
• K+, 4.1
• Cr, 1.2

peripheral blood smear: teardrop-shaped red cells, nucleated red cells, myelocytes, promyelocytes, and 1% myeloblasts.

What is the most likely cause of the anemia, thrombocytopenia, and leukopenia in this patient?

Which of the following is the most suggestive of intravascular haemolysis?

A 36-year-old man presents in a post-ictal state after an observed generalised seizure.

Full blood investigation shows:

• haemoglobin 90 g/L [128-175]
• mean corpuscular volume (MCV) 106 fL [80-97]
• white cell count 12.6 x 10⁹/l [3.9-12.7]

Differentials:

• neutrophils 10.4 x 10⁹/l [1.9-8.0]
• lymphocytes 0.8 x 10⁹/l [0.9-3.3]
• monocytes 1.1 x 10⁹/l [0.3-1.1]
• eosinophils 0.2 x 10⁹/l [0-0.5]
• basophils 0.1 x 10⁹/l [0-0.1]
• platelet count 135 x 10⁹/l [150-396]

The blood film shows macrocytic red blood cells (RBCs) with anisocytosis and poikilocytosis. The neutrophils are  hypersegmented with five or more lobes.

The most likely cause of the peripheral blood macrocytosis is:

A 15 year-old girl is seen in the Emergency Department with obvious jaundice and moderate pallor. Examination reveals the presence of jaundice, no hepatomegaly but a spleen palpable 3-4 cm below the costal margin.

Full blood count shows:

• haemoglobin 75 g/L [115-140]
• mean corpuscular volume 80 fL [75-90]
• platelet count 410 x 10⁹/l [150-600]
• white blood count 10.1 x 10⁹/l with normal differential [5-14.5]

Peripheral blood smear shows spherocytosis as shown below.

The next most appropriate test is:

An 20 year old man presents with pallor, lethargy and tachycardia. His full blood count shows:

• haemoglobin 50 g/L [100-150]
• mean corpuscular volume (MCV) 62 fL [80-100]
• white cell count 4.8 x 10⁹/l [3.5-12.0]
• platelet count 520 x 10⁹/l [150-450]
• albumin 22 g/L [25-40]

A photomicrograph of the peripheral blood film is shown below.

What is the most likely diagnosis?

A 23 -year-old male presents with pallor, dark urine and fever following a mild viral-like illness associated with diarrhoea seven days earlier. He has a strong family history of hereditary spherocytosis.

A full blood count is performed and is as follows:

• haemoglobin (Hb) 79 g/L [110-140]
• white cell count (WCC) 23 x 10⁹/l [5-17]
• platelet count 110 x 10⁹/l [150-400]

The blood film shows fragmented RBCs with Helmet cells.

Which of the following is the most likely diagnosis?

A 16 year old teenager is brought to the emergency department with a one day history of fever, vomiting and lethargy. His parents are concerned that he looks pale and that his eyes look yellow.

On examination his temperature is 37.5C, heart rate is 110/minute, blood pressure 90/60 mmHg and respiratory rate is 25/minute. He is pale and quiet, but responsive, with mildly icteric sclera. His examination is otherwise unremarkable with no evidence of hepatosplenomegaly. A urinalysis is performed and is positive for blood. His blood test results are displayed below.

• Haemoglobin  78 g/L [116-136]
• MCV 83 fL [75-85]
• MCH 29 pg [24-30]
• MCHC 345 g/L [310-360]
• Platelets 292 x 10⁹/l [150-450]
• Reticulocytes 154.2 x 10⁹/l [20-105 x 109/L]
• Heinz Bodies Negative
• Poikilocytosis +
• Spherocytosis Occasional
• White Blood Cells 5.83 x 10⁹/l[6.10-11.00]
• Bilirubin Total  84 μmol/L [2-20]
• Bilirubin Conjugated 8 μmol/L [<10]
• Haptoglobin <0.06 g/L [0.35-2.10]
• Direct Antiglobulin Test Poly Negative
• Direct Antiglobulin Test IgG Negative
• Direct Antiglobulin Test C3d Negative

Which of the following diagnoses is most likely?

Which one of the following is the most important component in the pathogenesis of β thalassaemia?

A couple comes to see you because they are wanting to start a family. There is a vague history of thalassaemia in both families.

Which one of the following combinations would cause the least concern to this couple?

A 24-year-old woman who has recently arrived in Australia from Vietnam, presents for evaluation of abnormal menstrual bleeding. There are no abnormalities on examination.

Investigations show:

Full blood count

• haemoglobin 113 g/L [120-155]
• red cell count 5.2 x 10 ¹²/l [4.1-5.2]
• mean corpuscular volume (MCV) 71 fL [80-95]
• mean corpuscular haemoglobin (MCH) 22.0 pg [27.0-32.5]
• mean corpuscular haemoglobin concentration (MCHC) 310 g/L [325-360]
• white cell count 6.6 x 109/L [3.5-9.5]
• differential normal
• platelet count 212 x 10⁹/l [130-330]
• Blood film shows red cell microcytosis and hypochromasia but is otherwise normal

Haemoglobin (Hb) electrophoresis (cellulose acetate, pH 8.6):

• HbA2 2.7% [1.8-3.5]
• HbF 0.4% [0-2.0]
• No abnormal bands
• HbH preparation: HbH inclusions present

Serum biochemistry:

• iron 8 μmol/L [7-32]
• transferrin 3.2 g/L [2.1-3.6]
• ferritin 15 μg/L [7-280]

The most likely diagnosis is:

A 28-year-old man presents with a fractured ankle requiring surgical fixation.

Full blood examination shows:

• haemoglobin 115 g/L [128-175]
• red cell count 5.6 x 10¹²/L [4.0-5.7]
• mean cell volume 62 fL [80-97]
• white cell count 12.5 x 10⁹/l [3.9-12.7]
• (mild neutrophilia)
• platelet count 390 x 10⁹/l [150-396]
• serum ferritin 95 μg/L [15-325]
• Haemoglobin (Hb) studies show:
• HbA2 5.2% [1.8-3.5]
• HbF 1.2% [0-2.0]
• HbH preparation no HbH bodies seen
• Hb electrophoresis no abnormal Hb bands seen

The most likely explanation for his anaemia is:

A 21-year-old Filipino woman has been referred for investigation of anaemia. Her blood counts and iron studies are as follows:

• Haemoglobin 81 g/L [113-159]
• Haematocrit 0.27 [0.32-0.42]
• Red blood cells 4.58 x 10⁹/l [3.60-5.30]
• White blood cells 4.60 x 10⁹/l [3.90-12.70]
• Platelets 421 x 10⁹/l [150-396]
• Mean corpuscular volume 59 fL [80-97]
• Mean corpuscular haemoglobin 17.7 pg [28.0-34.0]
• Mean corpuscular haemoglobin concentration 300 g/L [328-363]
• Reticulocytes 142 x 10⁹/l [8-104]
• Serum ferritin 482 mcg/L [15-200]
• HbA2 1.4% [1.6-3.5]
• HbF 0.3% [0.2-1.0]

Which of the following is the most likely diagnosis?

Which of these Haemoglobin will be synthesized at a reduced rate in αthalassaemia?

Which of these Haemoglobin will be synthesized at a reduced rate in βthalassaemia?

If one parent has alpha thalassemia trait with two abnormal alpha globin genes on the same chromosome and the other parent has the silent carrier state with a single abnormal alpha globin gene on one chromosome, what is the likelihood (in percentage) of their future child developing HbH disease?

Within two hours of vigorous exercise, a 20-year-old man presents with sudden onset of severe left lateral lower chest pain, dyspnoea and anxiety.

Physical examination shows him to be febrile and anaemic and there is local tenderness over the left lateral lower ribs.

Full blood examination shows:

• haemoglobin 75 g/L [128-175]
• mean corpuscular volume (MCV) 81 fL [80-97]
• white cell count 13.6 x 10⁹/l [3.9-12.7]
• differential:
• neutrophils 11.2 x 10⁹/l [1.9-8.0]
• lymphocytes 0.9 x 10⁹/l [0.9-3.3]
• monocytes 1.0 x 10⁹/l [0.3-1.1]
• eosinophils 0.4 x 10⁹/l [0-0.5]
• basophils 0.1 x 10⁹/l [0-0.1]
• platelet count 180 x 10⁹/l [150-396]
• reticulocyte count 200 x 10⁹/l [9-116]

The blood film is shows sickle-shaped red blood cells.

The most likely diagnosis is:

A 69-year-old woman commences a chronic transfusion program for anaemia secondary to myelodysplasia. She experiences a non-haemolytic febrile transfusion reaction during each of two red cell transfusions administered four weeks apart.

Filtered blood would help reduce her risk of further reaction as it reduces her exposure to:

A 23-year-old woman presents with several days history of petechiae of the skin and oral mucosa. There is no history of infection or medication apart from the oral contraceptive pill. The patient is well and examination is unremarkable except for the petechiae.

Investigations reveal:

• haemoglobin 125 g/L [120-155]
• haematocrit 0.34 [0.39-0.45]
• mean corpuscular volume 83 fL [80-95]
• white cell count 7.5 x 10⁹/l [3.5-9.5] with normal differential
• platelet count 11 x 10⁹/l [130-330]
• prothrombin time normal
• activated partial thromboplastin time normal
• anti-nuclear antibody negative
• human immunodeficiency virus (HIV) serology negative

Which one of the following is the most appropriate treatment?

A 78-year-old man presents with progressive lethargy for several months and the recent onset of bruising, epistaxis, headaches and visual deterioration. Physical examination shows him to be anaemic with scattered ecchymoses; he has reduced visual acuity bilaterally and fundoscopy reveals retinal venous distension with numerous retinal hemorrhages.

Investigations show:

Full blood count:

• haemoglobin 72 g/L [135-170]
• mean corpuscular volume (MCV) 101 fL [80-95]
• white cell count 4.0 x 10⁹/l [3.5-9.5]
• differential: neutrophils 1.2 x 10⁹/l [1.5-6.0],
• lymphocytes 1.9 x 10⁹/l [0.7-3.2],
• eosinophils 0.4 x 10⁹/l [0-0.4],
• monocytes 0.5 x 10⁹/l [0.2-0.6],
• platelet count 90 x 10⁹/l [130-330]

Coagulation studies:

• prothrombin time-international normalised ratio (PT-INR) 1.5 [1.0-1.3]
• activated partial thromboplastin time (APTT) 45 seconds [26-38]

Biochemistry:

• urea 12.5 mmol/L [2.0-8.5]
• creatinine 0.15 mmol/L [0.07-0.13]
• liver function tests and calcium level normal

protein electrophoresis:

• hypogammaglobulinaemia
• Raised IgM kappa paraprotein of 60 g/L

What would be the most appropriate initial therapy for this man?

There is still a risk of infection with human immunodeficiency virus (HIV) from a screened blood transfusion due to the infectious window period of HIV.

This risk is closest to:

Which of the following would you expect to find in a patient with pure red cell aplasia?

What would you expect to see on a peripheral blood smear of a patient with autoimmune hemolytic anemia?

A 30 year old asymptomatic female is found to have a platelet count of 750,000/microlitre, on routine bloods.

She is otherwise fit and healthy and no cause for her reactive thrombocytosis has been found thus far.

Which of the following is the most appropriate management strategy in this patient?

A 30 year old woman is undergoing induction chemotherapy for AML. She has epistaxis that will not stop with local measures.

• Hb 89 g/L (115-155)
• Platelet 12 x 10⁹/l (150-400)
• INR 1.2
• APTT 45 (26-38)
• TCT 32 (<24)
• Fibrinogen 5.2 (2-4)

Which of the following is the most appropriate management?

Cryoprecipitate when used as a first line replacement is most useful in the treatment for which of the following condition ?