Hypochromic, Microcytic anaemia's. Flashcards
Thalassaemia's. Iron deficiency Anaemia.
What type of disease is alpha thalassaemia?
Autosomal recessive, you can be a silent carrier.
What is alpha thalassaemia?
A deficiency in the alpha chain
What are the different categories of alpha thalassaemia?
Mild - 2 genes deleted
Moderate - 3 genes deleted
Barts hydrops foetalis - 4 genes deleted
What symptoms are seen in mild alpha thalassaemia?
Palor dyspnoea easily fatigued skeletal deformities hepatosplenomegaly
What symptoms are seen in barts hydrops foetalis?
excess fluid builds up in the body before birth
severe anemia
hepatosplenomegaly
heart defects
abnormalities of urinary system or genitalia
most babies with this condition are stillborn or die soon after birth.
What is mild alpha thalassaemia known as?
HbH disease
Why does hydrops foetalis often cause still birth?
The foetal haemoglobin has such a high affinity for oxygen that the body doesn’t get any
What will blood tests show in alpha thalassemia?
Low haemoglobin
Low MCV
Low MCH
What is the treatment for alpha thalassaemia?
Mild - doesn’t need treatment
severe - blood transfusion and iron chelating agents
Hydrops foetalis - IV transfusions and bone marrow transplant
What causes beta thalassaemia?
A partial or complete beta global chain deficiency
What are MOSTLY all types of thalassaemias?
Autosomal recessive
What are the categories of beta thalassaemia?
Minor - asymptomatic
Intermediate
Major
What is beta major thalassaemia?
When the body can’t make any adult haemoglobin
Symptoms don’t develop until 6 months because of foetal haemoglobin
What are the signs of beta major thalassaemia?
Anaemia dyspnoea easily fatigued hepatosplenomegaly jaundice swollen abdomen growth retardation chipmunk face hair on end skull x-ray RBCs with nucleus (sometimes the bone marrow throws out anything it has)
What is the treatment for beta thalassaemia?
Minor - doesn’t need treatment
Intermediate + Major - blood transfusions and/or splenectomy.
Major - 4-6 weekly transfusions
What is iron loading?
Can cause death due to heart, liver or endocrine failure in the 2nd or 3rd decade if not treated
What test should be done 1st if a hypo chromic, microcytic anaemia is seen on a blood test?
Ferritin levels
What do ferritin levels suggest?
Low ferritin - iron deficiency anaemia.
Normal or increased ferritin - thalassaemia or secondary anaemia.
What are causes of iron deficiency anaemia?
Menorrhagia GI bleeding Diet Increased requirement (pregnancy) Malabsorption (coeliac) Gastritis Gastric ulcer Carcinoma of colon
What are signs of iron deficiency anaemia in particular?
Koilonychia
Angular chelitis
atrophic tongue
What is the management of iron deficiency anaemia?
Oral iron (ferrosulfate 200mmg 1/2x daily) Dietary advice GI investigations (if no signs of bleeding)
How quickly do haemoglobin levels go up in iron deficiency anaemia?
1g per week
How long should someone be treated with oral iron?
Treat until someone’s haemoglobin is normal then for another couple of months to build up stores.
What are other rarer treatments for iron deficiency anaemia?
IV iron
Blood transfusion
