Haematology Flashcards
An 11-year-old girl was brought to accident and emergency in December with pain in her left leg. She is known to have sickle cell disease and her baseline haemoglobin is 7.0 g/dL. She has been admitted in the past with painful leg and chest crises. She has a cough and coryza. Today her blood results show: haemoglobin 6.8, white cell count (WCC) 12 × 109/L, platelets 209 × 109/L, C-reactive protein (CRP) 20 mg/L. What is not part of the appropriate initial management?
A. IV fluids
B. 15 L oxygen through a non-rebreather mask
C. Exchange transfusion
D. IV antibiotics
E. Oramorph
C. Exchange transfusion
1 C(C) is correct. This child has a painful crisis caused by vaso-occlusion of small blood vessels supplying the bones in her leg. This leads to pain, which can require analgesia with morphine (Oramorph or patient controlled pumps). Painful crises may be triggered by cold weather, infection, hypoxia or dehydration. Therefore, the initial management of painful crises includes rectifying these triggers with analgesia (E) (opiates may be required), rewarming, antibiotics (D), oxygen (B) and IV fluids (A). If there is a marked drop in haemoglobin, top up transfusion may be required. Exchange transfusion is indicated for sickle chest crisis, stroke and priapism.
A 4-year-old boy is brought to accident and emergency with a limp for 1 day. He was unhappy to weight bear on his right leg. He had been with his grandparents all day and his mother brought him to hospital when she returned from work that evening. He was afebrile with a heart rate of 110 bpm but had had a cold last week. Mum reports no history of trauma. What is the most important diagnosis to exclude?
A. Behavioural
B. Acute leukaemia
C. Reactive arthritis
D. Soft tissue injury
E. Septic arthritis
B. Acute leukaemia
2 B Acute leukaemia (B) can present with a limp due to bone pain secondary to dissemination of the disease. It is important to do a full blood count (FBC) and blood film on these patients to look for pancytopenia and the presence of blast cells. The other diagnoses are also of importance to investigate for, but may be more or less likely depending on the history. There is no reported history of trauma so (D) is unlikely, but note that he has been with a different carer throughout the day than the one presenting with him now. He may need a plain x-ray of the hip and femur to exclude traumatic injury. The presence of a fever with limp or restricted movement of a joint must raise suspicion of septic arthritis (E), which in the hip is a medical emergency due to potential interruption of blood flow with increasing pressure in the joint. Reactive arthritis (C) can present after a viral illness and may show evidence of inflammation (raised WCC and CRP) but not to the extent as with septic arthritis.
A 14-year-old girl was diagnosed with idiopathic thrombocytopenic purpura (ITP) last week after she attended the children’s assessment unit with recurrent epistaxis. She had a platelet count of 16 × 109/L last week and now re-presents to accident and emergency with further episodes of epistaxis, haematemesis and petechiae. She had a heart rate of 110 bpm and her blood pressure is 100/70 mmHg. What is the next best management step?
A. Give a platelet transfusion and red cell transfusion
B. Arrange an urgent upper gastrointestinal endoscopy
C. Give IV immunoglobulin and steriods
D. Admit and monitor the haemodynamic status and administer a fluid bolus
E. Discharge home with advice to return if the symptoms continue for more than 24 hours
D. Admit and monitor the haemodynamic status and administer a fluid bolus
3 DThis girl has ITP, characterized by low platelets and mucosal bleeding. It usually occurs a few weeks after a viral illness. It is caused by immune- mediated destruction of circulating platelets within the reticuloendothelial system. It typically occurs in children between 2 and 10 years of age. The management depends on the severity of the presenting symptoms. The course of the illness is self-limiting, and if there is no continued bleeding, they may be monitored as an outpatient. However, this girl has continued episodes of bleeding and is tachycardic and hypotensive. She cannot be discharged (E) as she is medically unstable and needs close monitoring and a fluid bolus (D). Platelet transfusion (A) is not usually required as these platelets will be destroyed too, but in life-threatening bleeding with low platelets they may be required. An urgent endoscopy (B) would help to identify a gastric or oesophageal lesion, but given the previous history and low platelets this is not required and may cause harm if it were to cause further bleeding. IV immunoglobulins and steroids (C) can be used for children with continued bleeding, to try to reduce the underlying immune destruction, but a bone marrow aspirate should be carried out prior to commencing steroids to exclude malignancy.
A 14-year-old girl went to her GP with a sore throat and cervical lymphadenopathy.
She had a blood test done and you are called later that day with results. Haemoglobin 6.0 g/dL, WCC 230 × 109/L, neutrophils 0.9 × 109/L, platelets 77 × 109/L; blood film showed blasts and Auer rods. What is the most important management priority for this child in the first 24 hours from diagnosis?
A. Overwhelming sepsis
B. Febrile neutropenia
C. Heart failure
D. Uncontrollable bleeding
E. Tumour lysis syndrome
E. Tumour lysis syndrome
4 E She has a diagnosis of AML, as suggested by Auer rods on blood film. There is a very high WCC, predominantly due to blast cells in the bone marrow. This results in a reduction in the other cell line production producing a pancytopenia. Although anaemia can result in heart failure (C), low platelets can result in bleeding (D) and low neutrophils can result in increased susceptibility to infection (B) and overwhelming sepsis (A). The most important initial management step is to prevent tumour lysis syndrome. As the treatment for AML begins, a large number of cells break down which can cause complications such as hyperkalaemia, hyperphosphataemia, gout, fluid overload or dehydration, raised urea and creatinine, known as tumour lysis syndrome (E). Prophylactic hyperhydration, allopurinol or rasburicase and monitoring of electrolytes is required from the time of diagnosis.
A 2-year-old boy is admitted to the paediatric ward with a swollen, painful left knee. He has been afebrile and has a history of minor trauma to his knee earlier today. His mother is a haemophilia carrier and his father is not affected. You are keen to rule out haemophilia in this child. Which two clotting factors should you test for?
A. Factor VII and IX
B. Factor VII and VIII
C. Factor V and VI
D. Factor VIII and IX
E. Factor X and XI
D. Factor VIII and IX
5 D Haemophilia A and B are X-linked inherited conditions. Haemophilia A is due to a deficiency in clotting factor VIII. Haemophilia B is due to a deficiency in clotting factor IX. There is a spectrum in severity of the disease based on the extent of the deficiency and proportion of functional factor:
Mild 10–50 per cent
moderate 2–10 per cent
severe
A 20-year-old man presents to the infectious diseases department with a large 7 cm × 8 cm swollen painful lump in the left anterior triangle of his neck. He has night sweats, 10 kg weight loss and a dry cough for the last month. He was treated with surgery and radiotherapy for a high grade astrocytoma when he was 8 years old. Which of the following is not a recognized complication of his childhood condition and its treatment?
A. Finger clubbing
B. Haematological malignancy
C. Educational difficulties
D. Short stature
E. Infertility
A. Finger clubbing
6 AChildren with malignancies may present later in life with problems including secondary malignancy due to high levels of radiation during radiotherapy, commonly leukaemias and lymphomas (B). Educational difficulties (C) may be multifactorial in aetiology, with long periods missed from school due to ill health or poor ability to concentrate, seeing or hearing depending on the extent of the malignancy. Radiotherapy can affect the spine and growth hormone, both of which can contribute to growth problems (D). Irradiation and chemotherapy can also render gonadal tissue dysfunctional (E). Egg harvesting for females and sperm storage for males should be considered prior to therapy. Clubbing (A) is not a recognized complication of radiotherapy or chemotherapy. The causes of clubbing include cystic fibrosis, bronchiectasis, cyanotic congenital heart disease, inflammatory bowel disease and liver cirrhosis.
A 12-year-old girl has been seeing her GP for the last year with heavy periods and had suffered with bleeding gums when she was younger. She is otherwise well and lives with her adoptive parents who now have parental responsibility. Her coagulation tests reveal normal prothrombin time (PT) and activated partial thromboplastin time (APTT), low factor VIII, low von Willibrand factor (vWF), abnormal platelet aggregation and increased bleeding time. What is the likely inheritance of her condition?
A. Autosomal dominant
B. Autosomal recessive
C. X-linked
D. Robertsonian translocation
E. Sporadic mutation
A. Autosomal dominant
7 AThis girl has von Willebrand’s disease (vWD) and presents with a picture of mucosal bleeding which can be associated with platelet disorders (of actual number or function). This would suggest the mild phenotype of vWD, type 1 with partial deficiency of vWF. There are three types as follows:
• Type 1 – partial deficiency of vWF
• Type 2 – defective vWF
• Type 3 – complete deficiency of vWF
vWD type 1 and 2 are autosomal dominant (A) (type 3 is autosomal recessive) and a family history may be useful in the history. Haemophilia A and B are X-linked disorders (C). Platelet disorders are often secondary to other causes (consumption, destruction, defective production in bone marrow) but aplastic anaemias such as Fanconi’s anaemia are inherited in an autosomal recessive (B) manner. Robertsonian translocations (D) (fusion of two acrocentric chromosomes near the centromere with resultant loss of the short arms) can result in Down’s syndrome or recurrent pregnancy loss. Sporadic mutations (E) are not known to be associated with the development of vWD.
A 4-year-old girl has just returned from holiday in France where she visited a petting farm. She has had diarrhoea for 2 days, and her mother noticed fresh red blood mixed with the stools. She has also been vomiting. On admission to hospital her blood tests showed: Hb 5 g/dL, WCC 15 × 109/L, platelets 55 × 109/L, urea 19 mmol/L, creatinine 110 μmol/L. Her stool culture is pending. What is the most likely diagnosis?
A. Platelet disorder
B. Inflammatory bowel disease (IBD)
C. Severe dehydration
D. Henoch–Schönlein purpura (HSP)
E. Haemolytic uraemic syndrome (HUS)
E. Haemolytic uraemic syndrome (HUS)
8 E HUS (E) is a microangiopathic haemolytic anaemia consisting of acute kidney injury, haemolytic anaemia and thrombocytopenia. It occurs secondary to Escherichia coli or Shigella gastroenteritis due to an endotoxin initiating an inflammatory response. Treatment is largely supportive fluid management but may require renal replacement therapy. Renal impairment may resolve but a few can develop chronic kidney disease. IBD (B) is unlikely in this age group but can present with bloody diarrhoea, anaemia, abdominal pain and weight loss. Severe dehydration (C) may result in a pre-renal cause of acute kidney injury leading to raised urea and creatinine (though the urea may be disproportionately high). However, this would not explain the abnormalities of the full blood count. Platelet disorders (A) can lead to mucosal bleeding including haematemesis, haematuria, per rectum (PR) or per vaginam bleeding, and epistaxis. However, it does not explain the renal impairment. HSP (D) is a syndrome consisting of purpuric rash, arthralgia, abdominal pain and renal involvement. It may present with PR bleeding and diarrhoea due to gut vasculitis and renal failure, but there is no evidence of rash or joint involvement.
An 18-month-old boy presented to the GP with a history of eating soil. He had been in the garden this afternoon as his mother put the washing out. She found him eating the soil and took him straight inside. On examination, he is well and alert but has pale conjunctivae. He is not tachycardic or tachypnoeic. His diet consists of predominantly of breast milk. What is the most likely result of his haemoglobin and haematinics?
A. Hb 10 g/dL, MCV 80 fl, ferritin normal, iron normal, vitamin B12 and folate normal
B. Hb 6.5 g/dL, MCV 100 fl, ferritin normal, iron normal, vitamin B12 and folate low
C. Hb 5.5 g/dL, MCV 55 fl, ferritin low, iron low, vitamin B12 and folate normal
D. Hb 7 g/dL, MCV 70 fl, ferritin normal, iron normal, vitamin B12 and folate normal
E. Hb 6.8 g/dL, MCV 65 fl, ferritin normal, iron low, vitamin B12 and folate normal
C. Hb 5.5 g/dL, MCV 55 fl, ferritin low, iron low, vitamin B12 and folate normal
9 CThis child is exhibiting pica, a phenomenon of eating substances that are not food, secondary to severe iron deficiency anaemia consistent with microcytic anaemia with low iron stores (ferritin) as well as low circulating iron (C). The most likely cause is due to prolonged breastfeeding and delayed weaning. Children have sufficient iron stores for 4 months after birth. After this time they require supplementation which usually comes from the introduction of pureed and solid foods. Delay in weaning can lead to iron deficiency anaemia, hypocalcaemia and poor weight gain. (A) shows a normal study, with no evidence of anaemia and normal haematinics. (B) shows a macrocytic anaemia with vitamin B12 and folate deficiency (megaloblastic anaemia). (D) shows a microcytic anaemia with normal iron, suggesting another cause such as thalassaemia or sideroblastic anaemia. (E) is a macrocytic anaemia with normal vitamin B12 and folate, suggesting another cause such as hypothyroidism, liver disease, myeloproliferative disorders.
A 9-month-old boy presented to his GP with lethargy and a prominent forehead. He is pale on examination and has yellow sclerae. He is the first child of his non-consanguineous parents. His haemoglobin is 6.5 g/dL, WCC 5.0 × 109/L, platelets 300 × 109/L. His blood film shows evidence of haemolysis, no spherocytes, no sickle cells and a good reticulocyte count. Direct antiglobulin test (DAT) is negative. What is the most likely diagnosis?
A. Beta thalassaemia
B. Sickle cell disease
C. ABO incompatibility
D. Hereditary spherocytosis
E. G6PD deficiency
A. Beta thalassaemia
10 A Beta thalassaemia (A) is a haemolytic anaemia of autosomal recessive inheritance. Thalassaemia presents with anaemia after 6 months of age, when HbA is starting to be produced. Thalassaemia is present in Mediterranean and Asian populations and is due to a defect in the production of haemoglobin beta chains or alpha chains (beta and alpha thalassaemia, respectively). Patients can be homozygous (disease) or heterozygous (carriers). They present with anaemia and jaundice and may show evidence of extramedullary haemopoeisis (frontal bossing and maxillary overgrowth). Bloods tests will show a normocytic anaemia with hyperbilirubinaemia. A reticulocyte response would be expected with normal bone marrow function. Other non-immune haemolytic anaemias include other haemoglobinopathies such as sickle cell disease (B) (HbSS on Hb electrophoresis and sickle cells on blood film), red cell membrane defects (spherocytosis (D) and elliptocytosis seen on blood film) and red cell enzyme defects (G6PD deficiency (E) and pyruvate kinase deficiency, enzyme testing required for diagnosis), which usually present with acute crises which can be haemolytic, aplastic or with chronic anaemia and jaundice, splenomegaly due to increased red cell destruction. Immune-mediated haemolytic anaemias include ABO (C) or rhesus incompatibility. Carefully examine the mother’s blood group (more likely if she is O and the child is A or B, and rhesus negative) and the DAT which may be positive.
