Haematology Flashcards
What are the protein chains that make up HbA, HbA2 and HbF?
HbA: 2 alpha, 2 beta
HbA2: 2 alpha, 2 delta
HbF: 2 alpha, 2 gamma
What might you ask in the history of a patient presenting with anaemia?
Fatigue
SOB
Dizziness/syncope
Exercise tolerance
Chest pain
Any signs of bleeding: epistaxis, menorrhagia, haematuria, haempytysis, malaena
Red flags: weight loss, night sweats, lymphadenopathy, change in bowel habit
PMH: any other chronic diseases- eg. coeliac, IBD
Diet
Smoking/alcohol
Drug history
How can you classify anaemias and what are the causes of each?
Microcytic: MCV <80: Iron deficiency anaemia, anaemia of chronic disease, thalassaemia. sideroblastic anaemia.
Normocytic: MCV 80-100: haemolytic anaemias, anaemia of chronic disease, acute haemorrhage, bone marrow failure (aplastic anaemia), renal failure
Macrocytic: MCV 100: B12/folate deficiency, alcohol excess, hypothyroidism, liver disease, antifolaxe drugs
A 25 year old comes to GP practice as she says she is feeling tired all the time. She says she has started feeling more out of breath recently as well just when walking short amounts and has felt a bit dizzy occasionally. On examination she looks a bit pale and you notice her nails look flat, almost ‘spoon shaped’. You review for any blood loss and there is none acute but she says she gets very heavy periods every month. Given the likely diagnosis, what investigations are you going to do?
Iron deficiency anaemia secondary to menorrhagia
Ix:
Bloods: FBC and blood film: microcytic hypochromic anaemia, B12 and folate, iron studies- low Fe, low ferritin and raised TIBC, U&Es, LFTs, clotting profile
COELIAC SCREEN- anti-TTG and IgA ab
What are the causes of iron deficiency anaemia?
Blood loss- menorrhagia, IBD, gastric ulcer, varies
Malabsorption eg. coeliac, IBD
Poor dietary intake
Colon cancer in older men
What additional investigation would you do if the patient was over 60, male and had a history of weight loss and night sweats in a patient with iron deficiency anaemia?
Endoscopy and colonoscopy- check for colon cancer
How do you treat iron deficiency anaemia?
Iron replacement oral - sachets/tablets for 3m
If malabsorption/can’t take: IV
What side effects do you need to warn patients of when starting iron replacement?
Constipation, black stools, abdo pain, N&V
A 30 year old woman presents to clinic as she is feeling tired all the time. She says she has started feeling more out of breath recently as well just when walking short amounts and has felt a bit dizzy occasionally. On examination she looks a bit pale and you notice her tongue looks a bit swollen and red. She also says she has been struggling to swallow her food recently and feels like it gets stuck in her throat. What is the likely diagnosis and cause?
Plummer Vinson syndrome due to oesophageal webs: iron def anaemia + dysphagia + glossitis
How do you treat Plummer Vinson syndrome?
Iron supplementation to tx the iron def anaemia
Surgery to widen the oesophagus
A 7 month old boy is brought in by his dad because the child is failing to grow appropriately to his growth charts. He has a short stature given his age and looks a bit pale on examination. The dad says he’s noticed him more lethargic lately. On examination, you see a very prominent forehead and on palpation of the abdomen you can feel some splenomegaly. What is the diagnosis?
Beta thalassaemia
What is the pathophysiology behind beta thalassaemia?
Defect in beta globin gene causing no beta chains to be produced
What changes would you see to HbA, HbA2 and HbF in beta thalassaemia?
Absent beta chains will cause low HbA (2 alpha, 2 beta) but raised HbA2 (2 alpha, 2 gamma) and HbF (2 alpha, 2 delta)
Why do you get skull bossing and hepatosplenomegaly in beta thalassaemia?
Extramedullary haemotopoiesis- trying to produce more Hb so get production in liver and spleen
Bone marrow expands in skull to compensate and increase more Hb- skull bossing
How do you treat beta thalassaemia?
Lifelong blood transfusions + iron chelation to stop overload
May need splenectomy if massive splenomegaly
What changes would you see to HbA, HbA2 and HbF in alpha thalassaemia?
HbA= 2 alpha, 2 beta. Decreased
HbA2= 2 alpha, 2 gamma. Decreased
HbF= 2 alpha, 2 delta . Decreased
Tx with blood transfusions if severe
A 30 year old woman comes to GP as she is complaining of increasing fatigue all the time. She also gets intermittently out of breath more frequently and has had some headaches. On examination, she has a large red sore tongue and some ulcers at the corners of her mouth. She says in the last few days she’s noticed some numbness in her toes too. PMH: hypothyroidism and Addison’s disease. Given the likely diagnosis, what investigations will you do?
B12 deficiency caused by pernicious anaemia
Ix:
FBC and blood film: MCV >100 and megaloblasts, U&Es, LFTs, clotting
Parietal cell antibodies and intrinsic factor antibodies
B12 and folate measurements
What are some causes of B12 deficiency?
Poor diet- b12 is in meat, fish, diary
Malabsorption: Crohn’s, coeliac disease
Pernicious anaemia- autoimmune disease to parietal cells - decreased intrinsic factor production
Gastrectomy
A 30 year old woman comes to GP as she is complaining of increasing fatigue all the time. She also gets intermittently out of breath more frequently. On examination, she has a large red sore tongue and some ulcers at the corners of her mouth. She says in the last few days she’s noticed some numbness in her toes too. PMH: hypothyroidism and Addison’s disease. Given the likely diagnosis, what is the main worry in this patient i.e what complication might she have developed?
B12 deficiency caused by pernicious anaemia
Subacute degeneration of the spinal cord- paraesthesia, hyporeflexia , increased tone (mixed UMN and LMN signs)
How do you treat B12 deficiency?
B12 injections/oral: hydroxycobalamin
A 25 year old pregnant woman comes to GP as she is complaining of increasing fatigue all the time. She also gets intermittently out of breath more frequently and has had some headaches. On examination she has a sore red tongue. You do a FBC and a blood film which shows a MCV of 110 and blood film shows megaloblasts. What is the likely diagnosis and cause? What medication should she be on given this diagnosis and why?
Folate deficiency due to increased requirements of folate in pregnancy
Folic acid to prevent neural tube defects
What are the causes of folate deficiency?
Dietary: found in greens, nuts, fruit
increased requirements in pregnancy, malignancy, diabetes
Malabsorption : Coeliac, Crohn’s
Drugs; methotrexate, trimethoprim
A lady has been diagnosed with B12 and folate deficiency secondary to her Crohn’ disease. You decide to prescribe supplements. What will you be giving and which one first?
B12 - hydoxycobalamin before folate supplements- can worsen neurological symptoms otherwise.
A child presents to clinic with her mum who says child has been more fatigued and lethargic in the last few months. She looks pale on examination and has a bright erythematous rash on her cheeks. Her mum says she has had quite a few coughs and colds in the last few months as well. You take bloods and it shows a low Hb (MCV normal), low WCC and low platelets. What is the likely diagnosis?
Aplastic anaemia secondary to parvovirus b19 (slapped cheek)
What are the causes of aplastic anaemia?
Bone marrow failure
- Idiopathic
- Congenital: Fanconi’s - radial ray defect , Diamond-Blackfan anaemia
- Secondary: parovirus B19 infection, radiation, drugs
What investigations will you do in someone with aplastic anaemia?
Bloods: FBC low Hb and MCV normocytic, low WCC and low platelets, LFTs
Blood film
Bone marrow biopsy
What signs might you see with a patient who has a haemolytic anaemia?
Jaundice
Anaemia - pallor,
Hepatosplenomegaly
What are some causes of haemolytic anaemias?
G6PD deficiency Sickle cell Hereditary spherocytosis Autoimmune - warm/cold, ABO incompatibility, Rhesus disease DIC TTP HUS Drugs- penicillin
What investigations would you do in a patient with a haemolytic anaemia?
Bloods: FBC- raised reticulocytes, MCV normocytic, U&E, LFTs, bilirubin- raised unconjugated
Blood film
Coombs/direct antiglobulin test- autoimmune causes
A 10 year old child presents with his mother. He has been feeling a lot more tired in the last few months than usual and has been getting more SOB. His mum says he has been a lot paler too and she thinks he looks a bit yellow now too. On examination, you can feel some splenomegaly as well. They moved here from Norway about 1 year ago. What is the likely diagnosis?
Hereditary spherocytosis: jaundice + pallor + splenomegaly
What is a common gastro condition associated with hereditary spherocytosis?
Gallstones
What investigations will you do in a child you suspect has hereditary spherocytosis?
Bloods: FBC- low Hb, MCV normal, raised reticulocytes , LFTs- normal
Blood film: spherocytes
Bilirubin: raised unconjugated
How do you treat hereditary spherocytosis?
If Hb <70/symptomatic anaemia: blood transfusion
Splenectomy
Folic acid supplementation- needed to synthesise RBCs
A 13 year old boy has come to A&E as he is complaining of very severe pain in his arms and hands. His fingers look very swollen on examination. He says he has had a cold recently and has been feeling unwell with that. What condition do you need to rule out when a child presents with swollen painful fingers?
Sickle cell anaemia! he is having a vast-occlusive crises causing dactylitis triggered by infection
What is the pathophysiology behind sickle cell anaemia?
Defect in the beta globin causing glutamine to change to valine and producing HbS.
What are the symptoms of sickle cell anaemia?
Anaemia- pallor, SOB, lethargy Jaundice Splenomegaly Stroke Priapism
What investigations are you going to do in a child with sickle cell anaemia?
Bloods: FBC- low Hb,MCV normal, raised reticulocytes, raised bilirubin, LFTs
Blood film: sickle shaped RBCs
Hb electrophoresis: HbA reduced, HbA2 normal, HbF raised, HbS raised.
A 13 year old boy has come to A&E as he is complaining of very severe pain in his arms and hands. His fingers look very swollen on examination. He says he has had a cold recently and has been feeling unwell with that. His observations show he has a low BP, and is cold. He has a past medical history of sickle cell disease. What is this diagnosis and how are you going to treat it?
Sickle cell vasocclusive crises - limbs Tx: ABCDE IV fluids IV Anaglesia- likely needs morphine IV Antibiotics - broad spectrum Oxygen if needed Blood/exchange transfusion
What are some triggers for vast-occlusive crises in sickle cell anaemia?
Cold
Infection
Dehydration
Hypoxia
A 13 year old boy has come to A&E as he is complaining of severe chest pain and shortness of breath. On examination he is breathing very fast, and has a RR of 25. He has a bit of a fever and says he’s been feeling a bit run down in the last few days. He has a past medical history of sickle cell disease. What is this diagnosis and how are you going to treat it?
Acute chest syndrome - sickle cell crises Tx: ABCDE Oxygen IV analgesia IV antibiotics borad spec Salbutamol if wheeze present
How do you treat sickle cell anaemia?
Immunisations
Prophylactic antibiotics - penicillin
Hydroxycarbamide- reduce crises
What inheritance pattern is sickle cell anaemia?
Autosomal recessive
You are bleeped to see a patient on the haematology ward who has acutely become jaundiced. He is also describing feeling quite fatigued and thought he looked quite pale earlier. He has a catheter present which is passing very dark urine and he looks yellow on examination. He has a PMH of rheumatoid arthritis and said today he was started on a new drug for it called hydroxychloroquine. What is the likely diagnosis and what you would see on blood film?
G6PD deficiency- crises triggered by anti-malarial drug eg. chloroquine, hydroxychloroquine.
Blood film: Heinz bodies and bite cells.
