Hypochromic, Microcytic anaemia's.

Question 1

What type of disease is alpha thalassaemia?

Answer 1

Autosomal recessive, you can be a silent carrier.

Question 2

What is alpha thalassaemia?

Answer 2

A deficiency in the alpha chain

Question 3

What are the different categories of alpha thalassaemia?

Answer 3

Mild - 2 genes deleted
Moderate - 3 genes deleted
Barts hydrops foetalis - 4 genes deleted

Question 4

What symptoms are seen in mild alpha thalassaemia?

Answer 4

Palor
dyspnoea
easily fatigued
skeletal deformities
hepatosplenomegaly

Question 5

What symptoms are seen in barts hydrops foetalis?

Answer 5

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.

Question 6

What is mild alpha thalassaemia known as?

Answer 6

HbH disease

Question 7

Why does hydrops foetalis often cause still birth?

Answer 7

The foetal haemoglobin has such a high affinity for oxygen that the body doesn’t get any

Question 8

What will blood tests show in alpha thalassemia?

Answer 8

Low haemoglobin
Low MCV
Low MCH

Question 9

What is the treatment for alpha thalassaemia?

Answer 9

Mild - doesn’t need treatment
severe - blood transfusion and iron chelating agents
Hydrops foetalis - IV transfusions and bone marrow transplant

Question 10

What causes beta thalassaemia?

Answer 10

A partial or complete beta global chain deficiency

Question 11

What are MOSTLY all types of thalassaemias?

Answer 11

Autosomal recessive

Question 12

What are the categories of beta thalassaemia?

Answer 12

Minor - asymptomatic
Intermediate
Major

Question 13

What is beta major thalassaemia?

Answer 13

When the body can’t make any adult haemoglobin

Symptoms don’t develop until 6 months because of foetal haemoglobin

Question 14

What are the signs of beta major thalassaemia?

Answer 14

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)

Question 15

What is the treatment for beta thalassaemia?

Answer 15

Minor - doesn’t need treatment
Intermediate + Major - blood transfusions and/or splenectomy.
Major - 4-6 weekly transfusions

Question 16

What is iron loading?

Answer 16

Can cause death due to heart, liver or endocrine failure in the 2nd or 3rd decade if not treated

Question 17

What test should be done 1st if a hypo chromic, microcytic anaemia is seen on a blood test?

Answer 17

Ferritin levels

Question 18

What do ferritin levels suggest?

Answer 18

Low ferritin - iron deficiency anaemia.

Normal or increased ferritin - thalassaemia or secondary anaemia.

Question 19

What are causes of iron deficiency anaemia?

Answer 19

Menorrhagia 
GI bleeding
Diet
Increased requirement (pregnancy)
Malabsorption (coeliac)
Gastritis
Gastric ulcer 
Carcinoma of colon

Question 20

What are signs of iron deficiency anaemia in particular?

Answer 20

Koilonychia
Angular chelitis
atrophic tongue

Question 21

What is the management of iron deficiency anaemia?

Answer 21

Oral iron (ferrosulfate 200mmg 1/2x daily) 
Dietary advice 
GI investigations (if no signs of bleeding)

Question 22

How quickly do haemoglobin levels go up in iron deficiency anaemia?

Answer 22

1g per week

Question 23

How long should someone be treated with oral iron?

Answer 23

Treat until someone’s haemoglobin is normal then for another couple of months to build up stores.

Question 24

What are other rarer treatments for iron deficiency anaemia?

Answer 24

IV iron

Blood transfusion

Question 25

What will be show on a blood test if someone is hypo chromic and microcytic?

Answer 25

Low MCH

Low MCV