Haematology and Oncology Flashcards
What are the differences between fetal and adult haemoglobin?
Two alpha subunits and two gamma subunits
Adult is alpha and beta
Greater affinity to oxygen than adult haemoglobin
Oxygen dissociation curve shifts to the left, as adult haemoglobin needs higher partial pressure
HbF production decreases as HbA increases at 32-36 weeks
What is hydroxycarbamide used for?
Anit-metabolite chemo drug
Increases production of fetal haemoglobin in sickle cell anaemia - protective against sickle cell crises and acute chest syndrome
Genetic abnormality for beta subunit means sickle shape, fetal haemoglobin cannot be sickle shape as there is no beta subunit
What are the common causes of anaemia in infancy?
Physiological anaemia of infancy
Anaemia of prematurity
Blood loss
Haemolysis - haemolytic disease of the newborn, hereditary spherocytosis, G6PD deficiency
Twin-twin transfusion
What is physiologic anaemia of infancy?
Normal dip in Hb around 6-9 weeks in term babies
High oxygen delivery at birth due to high Hb causes negative feedback - reduced erythropoeitin from the kidneys - reduces Hb from bone marrow
What are some of the causes for anaemia in a premature neonate?
Less time in utero receiving iron from mother
Red blood cell creation cannot keep up with rapid growth
Reduced erythropoeitin levels
Blood tests removing significant amount of circulating volume
What is HDN?
Causes haemolysis and jaundice
Incompatibility of rhesus - rhesus negative mum with rhesus D positive baby - sensitisation before future pregnancies
Mother’s anti-D antibodies cross placenta to positive baby, attacks RBCs of fetus and they break down
Haemolysis, anaemia, high bilirubin levels
Direct coombs test to check
What are the key causes of anaemia in older children?
Iron deficiency anaemia secondary to dietary insufficiency
Blood loss - menstruation in older girls
What are rarer causes of anaemia in children?
Sickle cell Thalassaemia Leukaemia Hereditary spherocytosis Hereditary eliptocytosis Sideroblastic anaemia
Blood loss due to roundworms, hookworms, whipworms in developing countries - treatment with mebedazole
What are the causes of microcytic anaemia?
TAILS Thalassaemia Anaemia of chronic disease Iron defiency Lead poisoning Sideroblastic anaemia
What are the causes of normocytic anaemia?
Acute blood loss
Anaemia of chronic disease
Aplastic anaemia
Haemolytic anaemia
Hypothyroidism
What are the causes of macrocytic anaemia?
Megaloblastic:
B12 or folate deficiency
Due to impaired DNA synthesis
Normoblastic: Alcohol Reticulocytosis from haemolytic anaemia, blood loss Hypothyroidism Liver disease Drugs e.g. azathioprine
What are the generic symptoms of anaemia?
Tiredness SOB Headaches Dizziness Palpitations
Specific to iron deficiency - pica, hair loss
What are the signs of anaemia?
Pale skin, conjunctival pallor
Tachycardia, raised RR
Koilonychia - spoon shaped nails indicate iron deficiency
Angulat chelitis - iron defi
Atrophic glossitis - atrophy of papillae, smooth tongue
Brittle hair and nails
Jaundice - haemolytic
Bone deformities - thalassaemia
What are the investigations for anaemia?
FBC, Hb, MCV Blood film Reticulocyte count - high count is active production to replace lost cells Ferritin B12 and folate Bilirubin Direct Coombs Haemoglobin electrophoresis for haemoglobinopathies
What are the causes of impaired red cell production in children?
Red cell aplasia - parvovirus B19 infection, aplastic anaemia, leukaemia, congenital red cell aplasia
Ineffective erythropoiesis - iron def, folic acid def, chronic inflammation, chronic renal failure
Myelodysplasia, lead poisoning
What are the causes of red cell destruction (haemolysis) in children?
Red cell membrane disorders - hereditary spherocytosis
Red cell enzyme disorders - G6PD deficiency
Haemoglobinopathies - thalassaemias, sickle cell
Immune - HDN, autoimmune haemolytic anaemia
What are the causes of blood loss leading to anaemia in children?
Fetomaternal bleeding
Chronic GI bleed - Meckel diverticulum
Inherited bleeding disorders - von Willebrand disease
What are useful investigations for red cell aplasia?
Reticulocytles will be low
Parvovirus serology
Bone marrow aspirate
What are useful investigations for haemolysis?
Reticulocytes normal or high
Bilirubin raised
Blood film
Hb HPLC
What are useful investigations for blood loss/ineffective erythropoiesis causing anaemia?
Blood film
Serum ferritin
Where does iron intake come from in infants?
Breast mild 50% absorbed
Infant formula 10% absorbed
Cow’s milk 10% absorbed
Mixed diet
What are the diagnostic clues that point towards haemolysis?
Raised reticulocyte count - polcythaemia Unconjugated bilirubinaemia Increased urinary urobilinogen Abnormal appearance of RBCs on film Positive direct antiglobulin test if an immune cause Increased rbc precursors in bone marrow
What does haemolytic anaemia lead to?
Anaemia Hepatomegaly Splenomegaly Increased blood levels of unconjugated bilirubin Excess urinary urobilinogen
What are the causes of haemolytic anaemia in children?
Haemolysis only leads to anaemia when bone marrow cannot compensate for destruction - RBC lifespan may be reduced to few days, but bone marrow production can increase by eight fold
Immune haemolytic anaemias uncommon in children, unlike neonates
Usually intrinsic abnormalities of the RBC:
Hereditary spherocytosis, red cell enzyme disorder
Haemoglobinopathies
What are the clinical features of hereditary spherocytosis?
May be asymptomatic
Jaundice - in childhood, may be intermittent
Anaemia
Mild to mod splenomegaly
Aplastic crisis - uncommon, transient (2-4 wks) caused by parvovirus B19 infection
Gallstones - due to increased bilirubin excretion
What is the management of hereditary spherocytosis?
Most are mild, need oral folic acid as have raised requirement due to increased RBC production.
Splenectomy beneficial, indicated in poor growth or troublesome anaemia - tired, loss of vigour
Need to ensure vaccinated against Hib, men C, strep pneumonia
Lifelong daily oral penicillin prophylaxis
Where is iron absorbed?
Duodenum and jejunum
Requires acid from stomach to keep iron as soluble ferrous
That is why meds e.g. PPIs can interfere with iron absorption, as less acid
What is total iron binding capacity?
The total space on transferrin molecules which iron as ferric irons Fe3+ can bind to the transferrin.
This is measured as transferrin saturation - how much is bound.
What does it mean when ferritin is high or low?
Extra ferritin released if inflammation e.g. cancer, infection
Normal or low - iron deficiency anaemia
could be normal if they also have an infection
What does it mean when TIBC and transferrin is high or low?
High in iron deficiency
Low in iron overload
How can iron be supplemented?
Ferrous sulphate or ferrous fumarate
Can cause constipation and black coloured stools
Unsuitable if malabsorption is the cause
What is G6PD deficiency?
Condition where there is a defect in the G6PD enzyme
X linked recessive
Usually affects males
What are G6PD crises triggered by?
Infections
Medications e.g. antimalarials
Broad beans/fava beans
Becomes jaundiced and anaemic after e.g. eating broad beans
What does the G6PD enzyme do?
Protects cells from damage by reactive oxygen species
Deficiency makes RBCs more vulnerable to ROS, leading to haemolysis
So periods of increased stress can lead to more ros, acute haemolytic anaemia
What is the presentation of G6PD deficiency?
Neonatal jaundice
Anaemia
Intermittent jaundice
Gallstones
Splenomegaly
Heinz bodies seen on blood film - denatured Hb
Diagnosis can be made by doing a G6PD enzyme assay
What is the management of G6PD deficiency?
Avoid triggers to acute haemolysis - including fava beans and medications
Also napthalene in mothballs
Primaquine - antimalarial Ciprofloxacin Nitrofurantoin Trimethoprim Sulfonylureas Sulfasalazine
How can sickle cell be diagnosed?
Pregnant women at risk of being carriers offered testing during pregnancy
Newborn screening heel prick at 5 days of age
What is the cause of sickle cell?
Autosomal recessive
Abnormal gene on chromosome 11
Two copies needed for trait
Abnormal HbS variant
What are the complications of sickle cell?
Anaemia
Increased risk of infection
Avascular necrosis of large joints such as hip
Pulmonary hypertension
Painful and persistent erection - priapism
CKD
Sickle cell crises - vaso-occlusive crises; sickle cells clump together and block small blood vessels
Acute chest syndrome
What is the management of sickle cell crises?
Managed supportively Have low threshold for admission to hospital Treat any infection Keep warm, IV fluids Simple analgesia Penile aspiration to treat priapism
What is the general management of sickle cell?
Avoid dehydration and other triggers of crises, often have high haematocrit
Ensure vaccines up to date
Antibiotic prophylaxis e.g. penicillin V against infection
Hydroxycarbamide can be used to stimulate HbF
Blood transfusion in severe anaemia
Bone marrow transplant can be curative
What is splenic sequestration crisis?
RBCs blocking blood flow in the spleen
Causes acutely enlarged and painful spleen
Pooling of blood in spleen can lead to severe anaemia and circulatory collapse
Emergency
Supportive management with blood transfusions and fluid resuscitation
Splenectomy prevents this
Used in recurrent crises
What is aplastic crises?
Temporary loss of creation of new blood cells
Often due to infection with parvovirus B19
Leads to significant anaemia, management supportive with blood transfusions
Resolves spontaneously within a week
What is acute chest syndrome in sickle cell?
Fever and resp symptoms, and new infiltrates on CXR
Can be due to infection e.g. pneumonia or bronchiolitis, or non infective causes
e.g. vaso-occlusion or fat emboli
What is the treatment of acute chest syndrome in sickle cell?
Abx or antivirals for infection
Blood transfusions for anaemia
Incentive spirometry to encourage effective and deep breathing
Artificial ventilation with NIV or intubation
What is leukaemia?
Cancer of a particular line of stem cells in bone marrow
Causes unregulated production of certain blood cells
Classified by chronic (slow) or acute (fast) and cell line affected - myeloid or lymphoid
What are the types of leukaemia that affect children, from most to least common?
Most common in acute lymphoblastic leukaemia
Acute myeloid leukaemia
Chronic myeloid leukaemia is rare
At what age does acute lymphoblastic leukaemia peak?
2-3 years
At what age does acute myeloid leukaemia peak?
Under 2 years
What occurs in leukaemia - pathophysiology?
Mutation leads to excessive production of a type of white blood cell
Overproduction of single type of cell can lead to suppression of other cell lines
Causes underproduction of other cell types
Results in pancytopenia
Low RBCs - anaemia
Low WBCs - leukopenia
Low platelets - thrombocytopenia
What are the risk factors for leukaemia?
Radiation exposure e.g. AXR in pregnancy, main environmental risk factor for leukaemia
Down’s
Kleinfelter syndrome
Noonan syndrome
Fanconi’s anaemia
What is the presentation of leukaemia?
Non-specific Persistent fatigue Unexplained fever Failure to thrive Weight loss Night sweats Pallor - anaemia Petechiae Abnormal bruising - thrombocytopenia Unexplained bleeding - thrombocytopenia Abdominal pain Generalised lymphadenopathy Unexplained or persistent bone or joint pain Hepatosplenomegaly
When does NICE recommend referral if suspicious of leukaemia?
Any child with unexplained petechiae or hepatomegaly for immediate specialist assessment
What are the investigations for leukaemia?
FBC - anaemia, leukopenia, thrombocytopenia, high numbers of abnormal WBCs
Blood film - blast cells
Bone marrow biopsy
Lymph node biopsy
CXR
CT scan
Lumbar puncture
Genetic analysis and immunophenotyping of abnormal cells
What is the management of leukaemia?
Chemo
Radio
Bone marrow transplant
Surgery
What are the complications of chemotherapy in leukaemia?
Failure to treat Stunted growth and development Immunodeficiency and infections Neurotoxicity Infertility Secondary malignancy Cardiotoxicity
How can cancer in a child present?
A localised mass
The consequences of disseminated disease e.g. bone marrow infiltration - causes system ill health
Consequences of pressure from a mass on local structures or tissue
When is chemotherapy used in malignancy?
Primary curative treatment e.g. acute lymphoblastic leukaemia
To control primary or metastatic disease before definitive local treatment with surgery and/or radiotherapy
As adjuvant treatment to deal with residual disease and to eliminate presumed micrometastases e.g. after initial local treatment with surgery in Wilms tumour
What are some of the short term side effects of chemotherapy?
Bone marrow suppression Immunosuppression Gut mucosal damage Nausea and vomiting GI damage, painful mouth ulcers can prevent eating Anorexia Alopecia Drug specific side effects
What is a consequence of immunosuppression from chemotherapy?
Risk of serious infection
Children with fever and neutropenia admitted for cultures and broad spectrum antibiotics
What are some important infections associated with therapy for cancer?
Pneumocystis jiroveci pneumonia - especially in children with leukaemia
Disseminated fungal infection - e.g. aspergillosis and candidiasis
Coagulase negative staphylococcal infections of central venous catheters
Measles and chickenpox may have an atypical presentation
Use of live vaccines contraindicated during chemo, and 6 months after
What is an example of a treatment scheme for standard risk acute lymphoblastic leukaemia?
Induction
Consolidation and CNS protection e.g. methotrexate
Interim maintenance e.g. monthly vincristine and dexamethasone
Delayed intensification
Continuing maintenance - continues for further 2 years in girls, 3 years in boys
What is lymphoma?
Results from genetic alterations which trigger abnormal proliferation of lymphocytes
What is the difference between leukaemia and lymphoma?
In lymphoma, the malignant cells are mature lymphocytes
Arise outside of the bone marrow e.g. lymph nodes
Leukaemia is from immature blasts in the bone marrow
EXCEPT
lymphoblastic lymphomas - B and T cell lymphoblastic lymphomas develop from precursors
How can lymphoblastic lymphomas be distinguished from lymphoblastic leukaemias?
Degree of bone marrow infiltration by blasts
<25% involvement is lymphoma, >25% leukaemia
What is the classification of lymphoma?
Hodgkin’s:
Classical: Nodular sclerosis Mixed cellularity Lymphocyte rich Lymphocyte depleted
Non-classical:
Nodular lymphocyte predominant HL (Reed sternberg cells not present)
Non-Hodgkin’s:
Majority are high grade lymphomas (mature cell):
- B cell
e.g. Burkitt’s lymphoma
Large B cell lymphoma
Primary CNS lymphomas - T cell
Anaplastic large cell lymphoma
Peripheral T cell lymphoma
Mature cell: low grade:
- B cell - follicular
- T cell - rare
Precursor: B and T cell lymphoblastic lymphoma
What are the risk factors for lymphoma?
Immunodeficiency - post solid organ transplant, ataxia telangiectasia, HIV, immunosuppressive drugs
What are the signs and symptoms in a history indicating lymphoma?
Painless progressive lymphadenopathy - develops over weeks/months
(could just be due to infection, so requires careful history)
B symptoms: fatigue, drenching night sweats, fever <38, weight loss >10% 6 mnths
Pruritus
Mediastinal involvement (thymus or mediastinal lymph nodes) dyspnoea, cough, chest pain
What symptoms of lymphoma indicated extranodal involvement?
More common in NHL
Bone marrow - symptoms of anaemia, infection, easy bruising and bleeding
Abdomen - bloating, early satiety, pain, unable to pass stools and vomiting if obstructed
Retroperitoneal lymphadenopathy - urinary retention
Skin - new skin lesions, jaundice
Testicular swelling
CNS - behavioural change, headache, confusion, nausea and vomiting, seizures, weakness, sensory changes
What are the clinical findings seen on examination in lymphoma?
Non tender, firm, matted lymph nodes
In Hodgkin’s - cervical, supraclavicular, axillary
In NHL - more rapidly growing and bulky
Mediastinal mass - may cause SVC obstruction, effusions, airway obstruction
Abdomen - splenomegaly, hepatomegaly, abdominal mass
Skin - T cell lymphomas inc mycosis fungoides, jaundice
Testicular mass
Neurological weakness, sensory abnormalities, features of raised ICP
What are some differentials for lymphadenopathy?
Viral infective - URTI, mono, rubella, measles, CMV, adenovirus, HIV
Bacterial infection - TB, typhoid, syphillis, lyme’s, brucellosis
Malignant - leukaemia, neuroblastoma
Autoimmune - JIA, SLE, drug reaxtions
What is the most common cause of lymphadenopathy in children?
Infection
What are the investigations for lymphoma?
Bedside:
Pbs, swabs (rule out infection) urine dip, ECG - check before starting cardiotoxic chemo
Bloods:
FBC - pancytopenia or leukaemia, (anaemia, thrombocytopenia, raised WBC in leukaemia)
U&Es - baseline kidney function
LDH and urate - raised in high cell turnover
LFTs, low albumin = worse prognosis
Monospot test - exclude EBV
Hep B/HIV risk of reactivation with rituximab
G6PD def identified as tx can cause haemolytic crisis
ESR - worse prognosis if raised
Imaging:
CXR - mass
CT/MRI/PET - staging
USS liver or spleen
Biopsies of enlarged node
Fine needle aspiration
Excision or partial biopsy
What classification is used for lymphoma?
Ann Arbor for Hodgkin’s
St Jude’s for non-Hodgkin’s
I - 1 group on 1 side of diaphragm
II - >2 groups same side
III - nodes on both side
IV Hodgkin’s - extranodal sites beyond E
IV NHL - disseminated, multifocal
A: no systemic symptoms
B: systemic symptoms
What is the management of Hodgkin’s lymphoma?
Chemo
Radio <50% children, PET scan assess response after 2 cycles of chemo and if still going, need adjuvant radiotherapy
Lymphocyte predominant HL has less intensive tx - usually surgery or low dose chemo sufficient
What is the management of non-Hodgkin’s lymphoma?
Chemo
Regime depends on type and staging
B cell usually 4-6 invasive
T cell NHL less invasive, lasts 2-3 years
Biologics e.g. rituximab
Radio as adjuvant rarely
Bone marrow transplant for relapsed patients
Lymphoblastic lymphoma treated according to ALL
What are the short term complications of lymphoma?
SVC obstruction Bowel obstruction/perforation Cytopenias Pericardial or pleural effusions Pain from tumour invasion Tumour lysis syndrome
What are the short term complications of lymphoma treatment?
Neutropenic sepsis Mucositis, diarrhoea Anorexia, weight loss Alopecia Nausea and vomiting Fatigue Tumour lysis syndrome
What are the long term complications of the treatment for lymphoma?
Secondary cancers Cardiotoxicity Pulmonary toxicity Renal impairment Growth impairment Infertility
What is tumour lysis syndrome?
Oncological emergency
caused by lysis of tumour cells
either due to chemo or spontaneously in highly proliferative tumours
What can tumour lysis syndrome result in?
Hyperphosphataemia
Hyperkalaemia
Hypocalcaemia
Hyperuricaemia
AKI
Cardiac arrhythmias
Nausea and vomiting
Seizures
What can help prevent tumour lysis syndrome occurring?
Prophylactic hydration
Allopurinol
Prior to chemo
Rasburicase can be used if white cell count >50, breaks down uric acid
(check no G6PD def)
Allopurinol prevents uric acid production
What is the treatment of tumour lysis syndrome?
Aggressive hydration Rasburicase - drug mimics urate oxidase (not present in humans) Allopurinol Haemofiltration Dialysis
What is DIC?
Disseminated intravascular coagulation Systemic activation of blood coagulation Generates intravascular fibrin Leads to thrombosis of small and medium sized vessels Organ dysfunction
What are the common causes of DIC?
Severe sepsis or shock due to circulatory collapse
e.g. meningococcal sepsis
damage from trauma or burns
May be acute or chronic
Likely initiated through tissue factor pathway
What are the predominant features of DIC?
Bruising
Purpura
Haemorrhage
Pathophysiological process - microvascular thrombosis, purpura fulminans
How can DIC be detected?
No single test Thrombocytopenia Prolonged prothrombin time Prolonged APTT Low fibrinogen Raised fibrinogen degradation products D-dimers Microangiopathic haemolytic anaemia
What is the management of DIC?
Treat underlying cause of DIC, usually sepsis
Intensive care
Provide fresh frozen plasma to replace clotting factors
Cryoprecipitate
Platelets
What is the purpose of the spleen?
Spleen contains red pulp - filtration of RBCs white pulp - active in immune response creation of RBCS if not in bone marrow storage of RBCs, lymphocytes, platelets in emergency
production and maturation of B and T cells and plasma cells
When can splenectomy occur?
Planned
Traumatic - accident or surgery
Autosplenectomy - physiological loss of spleen function (hyposplenism)
What conditions is hyposplenism associated with?
Sickle cell anaemia - chronic damage to spleen results in atrophy coeliac disease dermatitis herpetiformis essential thrombocythaemia ulcerative colitis
What are the indications for a splenectomy?
Trauma
Spontaneous rupture - often in massive splenomegaly e.g. mono with a minor trauma
Hypersplenism - hereditary spherocytosis, elliptocytosis, immune thrombocytopenia
Neoplasia - lymphoma or leukaemia
Cysts, abscesses
What on a blood film gives an indication of hyposplenism?
Howell-Jolly bodies
Basophilic nuclear remnants in circulating erythrocytes
During maturation, late erythrocytes usually expel nuclei, some do not but are filtered by the spleen
Therefore indicates a damage or absent spleen
What are the complications of hyposplenism?
Individuals with absent or dysfunctional spleen at increased risk of severe infection - encapsulated bacteria
S pneumonia; pneumococcus
H influenzae Hib
N meningitidis
Increased risk of severe falciparum malaria
What is the management of hyposplenic patients?
Immunisations against s pneumoniae, n meningitidis, Hib, influenza
Antibiotic prophylaxis - oral phenoxymethylpenicillin or macrolides
If unwell, systemic antibiotics and admit
If at high risk in hyposplenism e.g.:
age <16, or >50 years
Poor response to pneumococcal vaccination
Previous invasive pneumococcal illness
Underlying haematological malignancy resulting in splenectomy
What is pancytopenia?
Low levels of red blood cells, white blood cells and platelets
What are usual causes of pancytopenia in children?
Acute leukaemias
Bone marrow failure
Megaloblastic anaemia
Can be due to reduced production:
(Or increased removal - rare)
B12/folate deficiency
Drugs - chemo, abx, anticonvulsants, psychotropic drugs, DMARDs
Viruses
Malignancy
Radiation
Idiopathic aplastic anaemia
Congenital bone marrow failure e.g. Fanconi’s anaemia
What are some of the symptoms of pancytopenia?
Tired, weak, dizzy, SOB Frequent fevers, infection Pale skin, petechiae Bleeding Bruising easily Heavy menstruation Blood in bowel movements
How is pancytopenia diagnosed and treated?
Bloods, bone marrow biopsy/aspiration
Blood transfusion
Stem cell transplant
What drugs and chemicals can cause haemolysis in children with G6PD deficiency?
Antimalarials e.g. primaquine, quinine, chloroquine
Abx
Sulphonamides
Quinolones e.g. ciprofloxacin
Nitrofurantoin
Aspirin in high doses
Chemicals
Naphthalene - mothballs
Fava beans - divicine
What is HbSC disease?
Affected children inherit HbS from one parent, and HbC from another whereas sickle cell anaemia is HbSS and both HbAs replaced with HbS and HbC so no normal HbA - no normal beta globulin genes
Fewer painful crises than those with HbSS
But may develop proliferative retinopathy so have eyes checked
What are beta thalassaemias?
Beta thalassaemia major - HbA not produced
Beta thalassaemia intermedia - small amount HbA produced, anaemia not bad enough to need blood transfusions
Minor - one normal gene, heterozygous
Small amount of HbA produced
What occurs in thalassaemias?
Low level of intracellular haemoglobin leads to hypochromic microcytic cells
What are alpha thalassaemias?
Silent carrier state
Deletion of a single α-globin gene.
It is asymptomatic, without anaemia
α-Thalassemia trait
Deletion of two α-globin genes
There is minimal or no anaemia and no physical signs; findings are identical to those of β-thalassemia minor
(microcytosis and hypochromia)
Haemoglobin H (HbH) disease
Deletion of three α-globin genes.
Tetramers of β-globin, called HbH, are formed
There is moderately severe anaemia, resembling β-thalassemia intermedia (microcytic, hypochromic anaemia
with target cells and Heinz bodies in the blood film)
Hydrops fetalis
Deletion of all four α-globin genes
In the foetus, excess of γ-globin chains form tetramers (Hb Bart) that are unable to deliver the oxygen to
tissues. Usually intrauterine death
What are the clinical features of beta thalassaemia major?
Severe anaemia, transfusion dependent
Failure to thrive
Extramedullary haemopoesis - prevented by regular transfusions
Pallor Jaundice Bossing of skull Maxillary overgrowth Splenomegaly Hepatomegaly Need for repeated transfusions
What are the complications of long term blood transfusion in children?
Iron deposition - cardiomyopathy, cirrhosis, diabetes, delayed growth, hyperpigmentation
Alloantibodies makes finding compatible blood hard
Infection - rare
HIV, Hep A B C, prions
Venous access difficult, device may be needed
Could then cause infection
What is Fanconi anaemia?
Inherited form of aplastic anaemia
Congenital abnormalities - short stature, abnormal thumbs, renal malformations
At high risk of death from bone marrow failure or transformation to acute leukaemia
What is aplastic anaemia?
Pancytopenia
Hypocellular bone marrow in absence of abnormal infiltrate or marrow fibrosis
What is the inheritance of haemophilia A and B?
X linked recessive
Features of haemophilia?
Spontaneous bleeding into joints and muscles
Can lead to crippling arthritis
In neonatal period, risk of intracranial haemorrhage
Haem A - prophylactic FVIII
Haem B - FIX
What are the features of vWD?
Autosomal dominant
Carriers can still have some deficiency
Defective platelet plug
Bruising
Excessive prolonged bleeding after surgery
Mucosal bleeding e.g. epistaxis, menorrhagia
What are examples of acquired disorders of coagulation?
Haemorrhagic disease of newborn due to Vit K deficiency
Liver disease
Immune thrombocytopenia
DIC
How might a child be deficient in Vit K?
Inadequate intake
Malabsorption - coeliac, CF, obstructive jaundice
Vit K antagonists e.g. warfarin
What is ITP?
Idiopathic thrombocytopenic purpura
Characterised by idiopathic thrombocytopenia (low platelet count) causing a purpuric non-blanching rash
Type II hypersensitivity reaction
Produces antibodies which destroy platelets
What is the presentation of ITP?
Usually <10s
Hx recent viral illness
Onset of symptoms over 24-48 hrs
Bleeding - gums, epistaxis, menorrhagia
Bruising
Petechial, purpuric rash - bleeding under skin
What is ecchymoses?
Large area of blood collected under the skin more than 10 mm
Non bllanching lesion
What is the management of ITP?
FBC, platelet count
Exclude other causes of low platelet count - e.g. heparin induced, or leukaemia
Tx only needed if severe thrombocytopenia - below 10, or patient actively bleeding
Prednisolone
IV immunoglobulins
Blood transfusions
Platelet transfusions work temporarily as antibodies will attack again
What is some advice given withITP?
Avoid contact sports
Avoid IM injections, procedures such as LPs
Avoid NSAIDs, blood thinners
Advice on managing nosebleeds
Seek help after any injury that could have caused internal bleeding
What are the complications of ITP?
Chronic ITP
Anaemia
Intracranial and subarachnoid haemorrhage
GI bleeding
