Anaemia Flashcards
Haemolytic anaemia results from increased destruction RBC. Give 3 causes
Hereditary spherocytosis G6PD Haemoglobinpathies a) sickle cell disease B) thalassaemia
How will a neonate present if it suffers from G6PD ?
Neonatal jaundice
What’s the cause of sickle cell disease ?
When will this condition classical manifest for the first time?
Point mutation in beta-globulin gene
Results in 2 alpha and 2 mutated beta globulin
After 6 month
Cause then the Hb F will be replaced by Hb A ( Hb F does not have a beta - chain )
A child with sickle cell disease shows which symptoms ?
Haemolytic anaemia
Jaundice ( chronic haemolysis )
Infection ( hyposlpenism )
Painful crisis : Vaso- occlusion due to faulty red blood cells
Eg acute chest syndrome , hand foot syndrome ( dactylitis )
Painful errection
Splenomegaly
Aplastic crisis : when infected with parvovirus B19 ( complete absence of RBC production )
How to manage a patient with sickle cell anaemia?
Prophylactic : vaccination - prevent infection
Folic acid
Avoid : cold , stress, excessive exercise , hypoxia
Acute crisis : analgesia , hydration , AB acute chest syndrome : exchange transfusion
Hydroxyurea - promotes Hb F production
What’s the only cure of sickle cell anaemia ?
Bone marrow transplant
only possible if HLA identical sibling
Sickle cell
Disease and thalassemias show both the same inheritance pattern. Which one?
Autosomal recessive
What is thalassaemia and what different types
Are there ?
A genetic defect in either alpha or beta globin chain leading to less HbA production
Alpha - thalassaemia
Beta - thalassaemia
What are clinical features of beta - thalassaemia ?
Transfusion dependent anaemia
Failure to thrive
Jaundice
If no transfusion -> extramedullary haemopoiesis ( hepatosplenomegaly and bone marrow expansion)
How to manage a patient with beta thalassaemia ?
Regular blood transfusion But this causes iron overload So always add Iron chelation : - s.c desferrioxamine or oral deferasoeix
Only cure bone marrow transplant
What is Hb Bart disease ?
All 4 alleles of alpha globin chain mutated
-> hydrous fetalis
Which further parameters are you looking at in the differentiation of anaemia ?
Reticulocytes
Bilirubin
Iron , Ferritin
Causes of microcytic anaemia
Iron deficiency
Thalassaemia
Sideroblastic anaemia
Causes of normocytic anaemia
Blood loss Chronic disease Bone marrow failure Renal failure Hypothyroidism Haemolysis Pregnancy
Signs of macrocytic anaemia
B12 and folate deficiency
Non-megaloblastix Alcohol and liver disease Reticulocytosis Cytotoxics Marrow infiltration Phenytoin Myelodysplastic syndrome Hypothyroidism
Explain the blood test results in haemolytic anaemia .
Low HB, macrocytic Low haptoglobin High reticulocytes High bilirubin -> mild jaundice High urinary urobilinogen (no urinary cong. Bili )
When would you consider a blood transfusion?
Clinically unwell patient
Hb < 70 g|L
Explain the features of iron deficiency anaemia and it’s causes
Microcytic hypochromic anaemia
Low ferritin
Inadequate uptake, malabsorption eg coeliac disease, blood loss (menorrhagia, GI bleeding ) hockworm
Give 2 causes for red cell aplasia.
How can you differentiate to haemolytic anaemia ?
Diamond-blackfan anaemia (congenital )
Parvovirus B19
Reticulocytes are low , bilirubin normal
What’s pernicious anaemia ?
Autoimmune -> atrophic gastritis -> lack of intrinsic factor and B12 absorption
What is sideroblastic anaemia ?
Microcytic
Ineffective erythropoiesis
Increased iron absorption
Iron loading in marrow -> sideroblasts
Causes of B12 deficiency
What are it’s clinical features ?
Vegans : no meat , fish, diary products
Malabsorption ( gastric atrophy, post gastrectomy , Crohn’s , terminal ileum resection )
Lemon tinge to skin - pallor+mild jaundice Glossitis (beefy red sore tongue ) Angular Cheilosis Depression, dementia Neurological triad : - + babinski (UMN) - absent knee reflex (LMN) -absent ankle reflex ( LMN)
What does the direct Coombs test indicate ?
When is it used?
In haemolytic anaemia
It detects antibodies on RBCs , indicates an immune cause
What does the indirect Coombs test show? When is it used?
In pre natal testing or before blood transfusion
Detects antibodies against RBC that are free in serum
+ if agglutination occurs
