Red Blood Cells Problems

Question 1

What are the causes of primary polycythemia?

Answer 1

Polycythemia rubra Vera (neoplasma of bone Marrow makes room any RBC) test: low erythropoietin level. JAK2 gene (tyrosine kinase)

Symptoms: often asymtomatic
Sx: itchying, especially in warm water, gouty Arthiritis, burning of hands/feet (erythomelagia), red/blue skin changes, prone to thrombosis.

Question 2

Main causes of microcytic anaemia?

Answer 2

Iron deficiency
Thalassaemia

Congential sideroblastic anaemia
Lead poisoning

Question 3

What are the causes of sideroblastic anaemia?

Answer 3

Inherited

Secondary : myelodysplasia, alcohol excess, lead toxicity, isoniazid

Question 4

What’s does the red cell distribution width (RDW) tell you about the anemia?

Answer 4

High RDW means mixed anemia eg iron and folate and b12 deficiency.

Normal RDW and high MCV likely alcohol/BM/ liver disease

Question 5

What features are present in Iron def anaemia?

Answer 5

Koilonychia
Atrophic glossitis
Angular stomatitis
Post-criciod webs (Plummer Vinson syndrome)

Question 6

What do bloods show for iron def aneamia?

Answer 6

⬇️hb
⬇️mcv
⬇️ferritin
⬇️Mchc
⬇️serum iron
⬆️TIBC
⬆️serum ferritin receptors

Question 7

Treatment for IRon def anaemia?

Answer 7

Oral iron (ferrous sulphate 200mg/8hr TDS po) - hb should rise 10g/L/week

Check in 3 months
Refractory - IV iron or EPO

Question 8

In microcytic anaemia treated with iron that doesn’t respond, what could be seen on the blood film to suggests a different diagnosis?

Answer 8

Sideroblasts (perinuclear ring of iron granules)

Question 9

What’s the treatment for sideroblastic anaemia?

Answer 9

Pyridoxine, transfusion in severe cases

Question 10

What are the different types of thalassaemia?

Answer 10

Beta (reduced or absent HbA)
Trait (increased HbA2)
Intermediate (HbA2)
Major/ cooleys anaemia (increased HbF)

Alpha (increased HbH)
Depends how many genes are deleted of the four.
All 4 = Hb Barts, incompatible with life - still birth, hydrops fetalis.

Question 11

What are the features of B thalassaemia trait, itermiadate and major?

Answer 11

Trait - anemia well tolerated
Intermediate - moderated anemia, Splenomegaly (destruction of abnormal RBCs)

Major - extra medullary haemopoesis (frontal bossing), hepatosplenomegaly. (Presents in fist year of life )

Question 12

What chromosome is afffected in B thalassaemia?

Answer 12

Chromo 11

Question 13

What does a skull X-ray of someone with B thalassaemia show?

Answer 13

Hairs on end, osteopenia,

Question 14

What’s the treatment for b thal major?

Answer 14

Blood transfusion with Fe chelation (desferoixamine) plus ascorbic acid to help urinary excretion of iron.

Bone marrow transplant for cure!

Question 15

What causes B12 deficiency?

Answer 15

Low intake (meat fish diary - stored in the body for 4 years!),
gut problems eg gastrectomy, ileal resection, crohns, tape worms, bacterial overgrowth (IF from parietal cells in stomach and absorbed in terminal ileum.)
Congential metabolic errors

Question 16

What are the features of B12 deficiency?

Answer 16

Macrocytic anaemia, lemon tinge (jaundice and pallor), glossitis, angular stomatitis, paraesthesia, peripheral neuropathy, irritability, depression, psychosis, demementia, gastric cancer

Subacute combined degeneration of the spinal cord (SACDSC) -

• symmetrical dorsal column loss (bilateral sensory and LMN signs)
• symmetrical corticospinal tract loss (UNM and motor signs)

Question 17

What’s the progression of neuropathy in B12 deficiency?

Answer 17

Peripheral neuropathy 
Joint position and vibration 
Ataxia
Stiffness and weakness 
TRAID : extensor plantaris, absent knee jerk, absent ankle jerk

Question 18

What are the antibodies present in pernicious anaemia?

Answer 18

Parietal cell Abs (90% not specific)

Intrinsic factor Abs (50% specific)

Question 19

What’s the treatment for B12 def?

Answer 19

IM hydroxocobalamin 1mg alternate days for 2 weeks for replenishing and every 2 weeks for maintenance. Initially see marked reticulocytosis.

Oral b12 if dietary.

Watch for hypokalemia, Fe or folate may be needed. Hb increases by 10g/L/week, wcc and plt should rise in about a week.

Question 20

Whats the treatment for warm and cold autoimmune haemolytic anaemia?

Answer 20

Warm - steriods and immunosuppress +/- splenectomy

Cold - keep warm, rituxamab, chlorambucil

Question 21

What’s the specific test for autoimmune haemolytic anemia?

Answer 21

Direct coombs test (direct antiglobulin test)

Question 22

Which drugs can cause haemolytic anaemia?

Answer 22

Penicillins and quinine

Question 23

What’s paroxysmal cold haemoglobinuria?

Answer 23

Presence of haemoglobin in the urine typically after exposure to cold temperatures.

It’s autoimmune and rare. Causes by viral infections and in self limiting.

Question 24

What are the causes of microangiopathic haemolytic anaemia?

Answer 24

Haemolytic uraemic syndrome,
TTP
DIC
Pre-eclampsia

It causes intravascular haemolysis and schistocytes on blood film. Also see hyperbillirubinemia (uncong)

Question 25

What is a schistocyte?

Answer 25

A fragmented part of a RBC do to mechanical destruction, they are irregular and jagged.

May point towards a microangiopathic haemolytic anaemia (MAHA)

Question 26

What are the hereditary RBC enzyme defects?

Answer 26

G6PD

PK deficiency

Question 27

What Igs are in warm and cold autoimmune haemolytic anaemia?

Answer 27

Warm - IgG

Cold - IgM

Question 28

What’s the treatment for hereditary sphereocytosis?

Answer 28

Splenectomy (after childhood)