Anemia Flashcards
What is the definition of anemia?
Low haemoglobin
What are the general symptoms and signs of anemia?
Symptoms: Fatigue, headache, intermittent claudication
signs: tachycardia, skin/eye pallor, dyspnoea
Give me types of microcytic anemia?
MCV<80
Iron deficiency anaemia
Alpha and beta Thalassemia
Sidroblastic Anemia
Give me types of normocytic anemia?
Sickle cell anemia
G6PDH def
Hereditary Spherocytosis
Autoimmune haemolytic anaemia
Aplastic Anemia
CKD
Malaria
Malignancies
BLOOD LOSS
Give me types of macrocytic anemia?
Megaloblastic
Folate deficiency anemia
B12 Deficiency anemia/Pernicous
Non-Megaloblastic
Alcoholism
Liver Disease
Hyperthyroidism
What are the different causes of iron deficiency?
Reduced Absorption: CFTR, IBD, Coeliac
Increased Utilisation: Prego, Breastfeeding
Blood Loss: Surgery, Haemorrhage
What are the signs of Iron def anemia
General anemia sx
+
Koilonychia - Spoon shaped nails
Angular stomatitis - mouth ulcers
Glossitis
decrease in oxygen supply to the skin can lead to dryness, cracking, and inflammation of the corners of the mouth. Additionally, iron deficiency can weaken the immune system, making it easier for infections,
IRON DEF - DX
FBC - MIcrocytic/ Hypochromic
Iron studies: Iron/ Ferretin/ Transferrin sat - DOWN
Transferrin - UP
How to treat iron def anemia?
Dietary advice - More red meat
Oral iron supplements
What is sidroblastic anemia
Sideroblastic anaemia is a haemoglobinopathy characterized by defects mitochondrial synthesis of haem.
This leads to the accumulation of iron in red blood cells forming ringed Sideroblastic (iron deposit around nucleus)
what are the causes of sidroblastic anemia
In sideroblastic anaemia, the defect in heme synthesis can occur due to:
Congenital - genetic mutations that affect enzymes involved in the process
or
Acquired due to factors such as drug exposure (isonizide), toxins, or nutritional deficiencies.
Sidroblastic anemia - DX
FBC - anemia/microcytic -
Iron studies - all UP iron/ferritin high
Blood Film - Sideroblastic ring
TX sidroblastic rings
Assess underlying cause
Complication of sidroblastic anemia
haemochromatosis - iron overload
What is thalassemia Alpha and beta
Inherited autosomal haemoglobinopathies.
How many alleles encode for Alpha globin and what chromosome is it found on?
What type of mutations is Alpha Thalassemia
4 alleles on chromosome 16
Deletion
How many alleles encode for Beta globin and what chromosome is it found on?
What type of mutations is Beta Thalassemia
2 alleles of chromosome 12
Mutation
What are the different phenotypes of Alpha thalassemia
1 deletion - ALPHA T carrier
2 deletion - ALPHA T trait
3 deletion - HbH - no alpha chains/ beta chains polymerise (precipitation)
4 deletion - HbBarts - die in utero
What are the different phenotypes of Beta thallasemia
x - reduced o - absent
Beta T trait - B/Bx (Asx)
Beta T Intermedia - Bx/Bx or Bx/Bo
Beta T major - Bo/Bo - Failure to thrive
What are the signs of thalassemia
General anemia sx
+
CHIPMUNK FACIES - enlarged face/cheels
Neonatal Jaundice
Hepatosplenomegaly - (hemolytic anemia)
Failure to Thrive
Thalassemia DX
FBC - HB down, Reticulocytes UP,
Blood Film - Hypochromic
SkullXR - ‘Hair on End’
Which diseases show ‘hair on end’ appearance on an skull XRAY and why?
Causes - SHITE
Sickle cell
Herediatry spherocytosis
Iron deficiency anemia - RARE
Thalassemia
Enzyme- G6PDH
The bone marrow responds by increasing its production of new red blood cells, causing expansion and remodelling of the bone tissue, which can result in the hair-on-end appearance on an X-ray.
Thalassemia TX
Trait - No TX
Regular blood transfusion (if Sx or hb>70g/L)
Iron chelation - desferrioxamine
Folate Supplementation
2- BM/Stem Cell Transplant
3- Splenectomy
