Haematology Flashcards
What is iron deficiency anaemia?
Iron deficiency anaemia develops when body stores of iron drop too low to support normal red blood cell (RBC) production
Need 20mg/day for RBC production, get 20mg back from RBC destruction
Loss of 1-2mg daily so need 1-2mg absorbed daily
Symptoms of iron deficiency anaemia (if extreme)
- Fatigue and diminished capability to perform hard labour
- Leg cramps on climbing stairs
- Craving ice (in some cases, cold celery or other cold vegetables) to suck or chew
- Poor scholastic performance
- Cold intolerance
- Reduced resistance to infection
- Altered behaviour (attention deficit disorder)
- Dysphagia with solid foods (from oesophageal webbing)
- Worsened symptoms of comorbid cardiac or pulmonary disease
Signs of iron deficiency anaemia
- Impaired growth in infants
- Pallor of the mucous membranes (a nonspecific finding)
- Spoon-shaped nails (koilonychia)
- A glossy tongue, with atrophy of the lingual papillae
- Fissures at the corners of the mouth (angular stomatitis)
- Splenomegaly (in severe, persistent, untreated cases)
What investigations need to be done in suspected anaemia
• FBC (microcytic anaemia)
• Serum iron, total iron-binding capacity (TIBC), and serum ferritin
• Evaluation for haemosiderinuria, haemoglobinuria, and pulmonary Haemosiderosis
• Coeliac screen/small bowel disease?
Find source of bleeding?
Treatment of iron deficiency anaemia?
- Oral iron supplementation with ferrous sulphate
- Blood transfusions is necessary
- Diet advice: apricots, chicken, turkey, fish, other meats, dried beans, lentils, and soybeans, eggs, liver, molasses, oatmeal, peanut butter, prune juice, raisins and prunes, spinach, kale and other greens
What is anaemia caused by?
Lack of RBCs in circulation
Either inadequate production or increased breakdown
Causes of anaemia due to inadequate production
- Marrow failure (aplastic anaemia)
- Nutrient deficiency (iron, folate, B12)
- Reduced iron due to bleeding (eg gut) (+low platelets)
- Pure red cell (sickle cell, haemoglobinopathies)
- Leukaemia (infiltration)
- Lack of erythropoietin (kidney issue)
Causes of anaemia due to increased breakdown
- Bleeding (bowel cancer, coeliac)
- Haemolysis (structural or due to antibodies)
- Antibodies (SLE, infectious disease, rhesus disease)
What investigations are needed in anaemia?
- FBC & film (sickle cell?)
- LFTs
- Direct coombs test
- Coeliac screen
- Bone marrow biopsy
- Iron, B12, folate levels
- Coeliac screen
Causes of microcytic anaemia
. Iron deficiency
. Sideroblastic
. Thalassaemia
Causes of normocytic anaemia
Acute blood loss
Haemolytic anaemia
Sickle cell
Causes of macrocytic anaemia
B12 or folate deficiency
What is a haemoglobinopathy?
- Genetic defect in the globin chains, usually autosomal recessive
- Tend to precipitate haemolysis, altered oxygen affinity, unwanted oxidation of iron
Give 3 examples of haemoglobinopathies
Eg sickle cell, HbS, HbC
What is thalassaemia?
Thalassaemias= Reduced or absent production of normal α or β-globin chains, leading to reduced levels of HbA, the main adult Hb. They are very diverse disorders at the genetic and clinical levels
What is ß-thalassaemia major?
Reduced ß chain production
β-thalassaemia major patients are transfusion dependent
Life-threatening anaemia develops in the first year of life as levels of fetal Hb (HbF) decline and adult HbA cannot be produced
Describe sickle cell sequelae
• Vaso-occlusive episodes causing recurrent acute painful sickle cell crises and syndromes such as stroke or acute chest syndrome
• Chronic haemolytic anaemia (Hb commonly 60 to 80 g/L in HbS/S)
• Splenic atrophy and hyposplenism (due to splenic infarction) with increased susceptibility to sudden overwhelming infection by encapsulated bacteria such as Streptococcus pneumoniae and Streptococcus meningitides
• Chronic organ damage, such as chronic kidney disease and joint damage from avascular necrosis, caused by recurrent sickling episodes.
No malaria in carriers
Management of sickle cell disease
- Black African descent
* Have both top-up transfusions and exchange transfusions (eg after stroke)
What is haemophilia?
- X-linked, recessive disorder caused by deficiency of functional plasma clotting factor VIII
- Inherited/sporadic mutation or development of inhibitory antibodies to fVIII can result in acquired haemophilia A
Signs of haemophilia A
- Easy bruising, inadequate clotting after trauma
- Weakness, orthostasis, tachycardia, tachypnoea
- Musculoskeletal: Tingling, cracking, warmth, pain, stiffness, and refusal to use joint (children)
- CNS: Headache, stiff neck, vomiting, lethargy, irritability, and spinal cord syndromes
- GI: Haematemesis, melena, frank red blood per rectum, and abdominal pain
- GU: Haematuria, renal colic, and post circumcision bleeding
- Other: Epistaxis, oral mucosal haemorrhage, haemoptysis, dyspnoea (haematoma leading to airway obstruction), compartment syndrome symptoms, and contusions; excessive bleeding with routine dental procedures
Diagnosis of haemophilia is done by:
Complete blood count (rule out leukaemia)
Coagulation studies
factor VIII and factor IX and vWF assays
What is haemophilia B?
Christmas disease
Inherited, X-linked, recessive disorder that results in deficiency of functional plasma coagulation factor IX/immune/spontaneous mutation
Signs of haemophilia B
- Haemorrhage into joints-> permanent deformities, misalignment, loss of mobility, and extremities of unequal lengths
- Haemarthrosis and hematomas with increasing physical activity; chronic arthropathy); traumatic intracranial haemorrhage
- Systemic: Tachycardia, tachypnoea, hypotension, and/or orthostasis
- Musculoskeletal: Joint tenderness, pain with movement, decreased range of motion, swelling, effusion, warmth
- Neurologic: Abnormal findings, altered mental status, meningism
- Gastrointestinal: Can be painless or present with hepatic/splenic tenderness and peritoneal signs
- Genitourinary: Bladder spasm/distension/pain, costovertebral angle pain
- Other: Haematoma leading to location-specific signs
Treatment of haemophilia A
Factor VIII replacement every 48hrs Desmopressin (ADH analogue, stimulates factor VIII production) Antifibrinolytics (tranexamic acid) Human antihaemophilic factor Analgesia
Treatment of haemophilia B
Recombinant coagulation factor VIIa Recombinant coagulation factor IX Antifibrinolytics (tranexamic acid) Human antihaemophilic factor Analgesia
What is leukaemia?
Malignant disorder of the blood and bone marrow
Increased proportion of immature white blood cells (blasts) in the bloodstream
Types of leukaemia?
Acute leukaemias involve accumulations of blast cells. Chronic are cells further down the differentiations process.
Myeloid versus lymphoid, which cells are they going to differentiate into? B and T cells= lymphoid. Erythrocyte, monocyte, neutrophil, basophil, eosinophil = myeloid.
ALL, CLL, AML, CML
What is the most common leukaemia in childhood?
ALL (80% of leukaemias)
Classic presentation of ALL
Children with acute lymphoblastic leukaemia often present with signs and symptoms that reflect bone marrow infiltration and/or extramedullary disease.
When lymphoid blasts replace the bone marrow, patients present with signs of bone marrow failure, including anaemia, thrombocytopenia, and neutropenia, insidious infection.
3 subclassifications of ALL and signs/symptoms
- B-precursor ALL: Bone pain, arthritis, limping; fevers (low or high); neutropenia; fatigue, pallor, petechiae, and bleeding; lymphadenopathy and hepatosplenomegaly
- Mature-B ALL: Extramedullary masses in the abdomen or head/neck; CNS involvement (eg, headache, vomiting, lethargy, nuchal rigidity)
- T-lineage ALL: Respiratory distress/stridor due to a mediastinal mass
How is ALL classified?
immunophenotyping & genotyping, and imaging
Children usually have t(12;21) mutation
Treatment of ALL
Survival rate?
• Dexamethasone, vincristine, asparaginase, daunorubicin
• Antifungals and antibiotics
• Iv fluids
• Radiation
Bone marrow is completely killed off as it is the source of the malignancy. Allogeneic HSCT (hematopoietic stem cell transplant) is used (donor’s marrow). This means the patient requires immunosupressants for life to avoid graft vs host disease.
5 year survival is>80%
What type of CNS tumours are commoner in children?
Usually posterior fossa tumours in paediatrics (cerebellum, 4th ventricle and brainstem)
Typically a primary brain tumour
Common treatments for CNS tumours in paeds
Chemotherapy is difficult to BBB. Resections/radiation more common
Signs and symptoms of CNS tumour
- Morning headache (raised ICP)
- Vomiting (raised ICP)
- Cranial nerve palsies, head tilt
- Ataxia
- Blurred vision, seizures
2 main types of lymphoma
Which is more curable?
Hodgkin (more curable)
Non-hodgkin
Define a non-hodgkin lymphoma
Non-Hodgkin lymphomas (NHLs) are tumours originating from lymphoid tissues, mainly of lymph nodes
Symptoms of lymphoma
- Adenopathy/ large thymus/mediastinal mass
- Bone marrow and GI infiltration
- Splenomegaly, hepatomegaly, skin lesions
- Anaemia/thrombocytopenia
- Weight loss
What needs to be ruled out in a patient presenting with possible lymphoma symptoms?
HIV
Hep B
TB
Treatment of Non-Hodgkin Lymphoma
- Radiation therapy
- Rituximab administration
- Bone marrow transplantation: Possible role in relapsed high-risk disease
- Radioimmunotherapy
- Transfusions of blood products
- Chemo and steroids
- Antibiotics
Treatment of Hodgkin lymphoma
- Radiation therapy
- Induction chemotherapy
- Salvage chemotherapy
- Hematopoietic stem cell transplantation
Name 4 main long term sequelae of lymphoma
- Infertility
- Splenic dysfunction: loss of memory of capsular bacteria, need immunisations again and antibiotics for life
- Endocrine/growth dysfunction
- Post radiation fibrosis (eg pulmonary fibrosis, neuro issues)
Main categories of causes for unexplained bruising?
- Non accidental injury?
- Vessel disease? (vasculitis, endotoxic shock)
- Blood problem?
How do you split up blood causes for bruising?
Platelet versus protein problem
Causes of platelet dysfunction causing bleeding
Platelet production
• Bone marrow (aplastic or infiltration)
• Reduced thrombopoetin production
Platelet breakdown: • Bleeding • DIC • Hypersplenism • Immune
Exampled of protein problem causing bleeding
- Vit K deficiency
- Factor deficiency
- Liver problem
- Warfarin?
- Heparin?
- Coagulopathies (haemophilia)
When does sickle cell disease present?
At a few months of age, as fetal haemoglobin is being replaced by abnormal adult Hb
