Haematology Flashcards
What is the most common haematological abnormality in the newborn?
Haemolysis of the newborn
Either due to antibody destroying fetal blood cells or an intrinsic abnormality in the baby’s blood cells themselves
What are the main causes of haemolytic anaemia in the newborn?
Blood group incompatibility (Rh or ABO)
Red cell membrane disorders e.g. hereditary spherocytosis
Red cell enzyme disorders (G6PD deficiency)
Abnormal haemoglobin (thalassaemia major)
How can we tell that the anaemia in the newborn is haemolytic?
Increased reticulocyte count
Increase in inconjugated bilirubin due to excessive break down of blood cells and liver not being able to keep up
Jaundice
Consider DAT - COOMB’S (LDH)
What is the most likely presenting symptom of haemolytic anaemia of the newborn?
Jaundice - early (in the first 24 hours) - this is always pathological and should be investigated
Will Coomb’s test be positive or negative in a case of blood group incompatibility?
Positive
What is beta-thalassaemia?
this is a genetic mutation that leads to a deficient or faulty copy of the beta chain in haemoglobin (this is the chain in HbA that is not present in HbF)
What is the consequence of beta-thalassaemia on the Hb conformity?
Means there will be a very high concentration of fetal haemoglobin in the circulation of the adult
What will the clinical presentation be of beta-thalassaemia major?
Extra medullary haematopoiesis meaning the child develops hepatosplenomegaly and over-action of the bone marrow leads to classical bossing of skull and forehead and maxillary overgrowth
What are the most commonly inherited coagulation disorders? How are they inherited?
Haemophilias A and B
They are X-linked (passed down to boys through the maternal line)
What is haemophilia B and how will it present?
Factor IX deficiency
usually presents as bleeding into joints and muscles that will lead to crippling arthritis
What is haemophilia A and how will it present?
Factor VIII deficiency
Will usually only present when they start to walk/crawl. Will present because they will be covered in bruises
Other presentations might include intra-cranial bleeding in the neonatal period, excessive bleeding after circumcision, heel prick test or venipuncture
How should we manage haemophilia?
Recombinant FVIII/FIX via IV infusion
AVOID ALL IM INJECTIONS, ASPIRIN and NSAIDS
Can we treat haemophilia A prophylactically?
YES - definitely with haemophilia A (treat with prophylactic FVIII that is given through a portocath)
DESMOPRESSIN can also be given
One of the haematological disorders is the most common inherited genetic condition in the UK, what is it?
Sickle Cell anaemia
Describe the pathophysiology of sickle cell anaemia
There is a point mutation in codon six on the beta chain of haemoglobin meaning there is an amino acid swap and heamoglobin can polymerise within the red cells causing them to ‘sickle’ in shape. This can lead them to get stuck in small vessels cause occlusive crises.
