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Blood Disorders > Inherited Haemoglobin Disorders > Flashcards

Inherited Haemoglobin Disorders Flashcards

1
Q

Describe the haemoglobin structure

A

Hb is a complex of globin chain
Eachh globin has a haem group
Each haem group has iron
Haem carry oxygen

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2
Q

What is the main haemoglobin in adults

A

Haemoglobin a

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3
Q

What is the number of alpha and beta chains in haemoglobin

A

2 Alpha

2 Beta

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4
Q

How many genes does alpha chain have and on what chromosome

A

2 genes on chromosom 16

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5
Q

How many genes does beta globin have

A

1 gene on chromosome 11

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6
Q

What are the ways we can classify haemoglobin disorders

A

Qualitative: changes to the globin chain amino acid sequence e.g sickle cells disease
Quantitatice: complete or partial reduction of a globin chain i.e thalasemia

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7
Q

What is sickle cell disease due to

A

Substitution of amino acid valine for glutamic acid at position 6 of the beta globin chain

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8
Q

What is sickle cell diease

A

When both beta globin chains are abnormal instead of making hba they make the variatn haemoglobinss

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9
Q

What is a sickle cell trait

A

This is someone who is a carrier

Only one beta chain is abnormla and they make both hba and hbs

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10
Q

What protection does sickle cell trait show

A

Protection to malaria

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11
Q

What are the symptoms of sickle cell trait

A

Usually asymptomatic

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12
Q

In phsyiological stress e.g sepsis what can people with sickle cell trait develop

A

Splenic infarction

Increased risk of clots

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13
Q

In sickle cell disease what can happen to the capillaries

A

Become occluded

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14
Q

What is the life span of the RBC in sickle cell disease

A

Short

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15
Q

Due to the short lifespain in sickle cell disease what can occur due to haemolytic anaemia

A

Jaundice- due to increased bilirubin

Pigment gallstones

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16
Q

What happens to the cell production in sickle cell disease due to haemolytic anaemia

A

Compensation

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17
Q

What features does compensation in cell production in sickle cell disease result in

A

Reticulocytosis

Potentional for folate deficiency

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18
Q

What are the acute presentation of sickle cell disease

A 
Painful vasooclussive crises
Infection
Acute chest syndrome
Stroke
Acute splenic and hepatic sequestration 
Aplastic crises i.e bone marrow swtiched off
Priapism
Growth delay
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19
Q

What is a vasooclusive sickle cell crises

A

When the small vessel in the body become blocked so it can be painful

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20
Q

What is the management of vasooclusive sickle crises

A

Analgesia for pain
Fluids
Oxygen
Low molecule hepatic

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21
Q

What are the complications of sickle cell disease

A

Sepsis
Renal impairment
VTE
Acute sickle chest syndrome

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22
Q

What is a an acute chest syndrome

A

Acute lung injury from pneumonia

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23
Q

What symptoms do peope with acute chest syndrome present with

A 
Cough 
SOB 
Chest pain 
Rib pain 
Fever
24
Q

What will the CXR show in someone with acute chest syndrome

A

Consolidation

Infiltrates

25
Q

What is the management for acute chest syndrome

A

Transfusion

26
Q

What can sickle cell disease lead to if chronic

A 
End organ damage:
Chronic kidney disease
Chronick sickle lung
Right heart failure
Cardiomegaly 
Retinopathy 
Gallstone
Leg ulcers
27
Q

What is the management of chronic sickle cell disease

A

Education
Support
Screening: in children with cranial doppler for stroke, adults with echocardiography for pulmonary hypertension

28
Q

What are the other interventions for sickle cell

A 
Folic acid
Analgesia
Penicillin prophylaxis 
Blood transfusion
Hydroxycarbamide- for severe recurrent painful virses or acurte chest syndrome
29
Q

What is alpha thalassemia

A

Reduction in the alpha globin chain production so you have a lack of hbA. There are excess gamma and beta chains that form abnormal haemoglobin

30
Q

How many alpha globin genes are there in alpha chains

A

2

31
Q

In total then how many alpha genes is there in one rbc

A

4 (2 alpha gene in 1 alpha chain and there are 2 alpha chains in total) this makes up 4 genes)

32
Q

What is the type of alpha thalassemia according to

A

How many alpha chains are deleted

33
Q

What is the deletion of 1 alpha gene called

A

Heterozygous a+

34
Q

What is the deletion of 1 alpha genes from both alpha genes

A

Homozygous a+ (-a/-a)

35
Q

What is the deletion of 2 alpha gene from one alpha chain

A

Heterozygous a- (- -/aa)

36
Q

What is the deletion of 2 alpha gene and 1 alpha gene from alpha chain

A

( - -/- a) haemoglobin h disease

37
Q

What is the deletion of 4 alpha genes in total

A
    • / - - hb barts hydrops
38
Q

What does hb barts hydrops result in

A

Still birth

39
Q

What features does heterozygous a+, ao and homozygous a+ result in

A

Low MCV

40
Q

What is beta thalassemia

A

Reduction of beta globin chain production

41
Q

What is b0 mutations result in

A

Total loss of beta chain production from the gene

42
Q

What does b+ mutation result in

A

Partial reduction of beta chain production from the gene

43
Q

How many beta genes does one beta chain have

A

1

44
Q

What is b/b0

A

B thal trait

45
Q

What is b0/b0

A

Beta thalasemia major

46
Q

What is b0/b+

A

Beta thalassemia intermedia

47
Q

What happens when you have absent or reduced beta chain production

A

You have excess alpha chains which are unstable and interfere with red blood cell maturation so you get erythropoiesis and haemolysis leading to anaemia

48
Q

What is the presentation of beta thalassemia at birth

A

Healthy as they have hbf and become anaemic as hbf reduces and present with failure to thrive

49
Q

What is the management of beta thalassemia

A

Blood tranfusion to reverse progressive anaemia

50
Q

What is the complication of blood transfusion

A

Iron overload

51
Q

What are the complications of beta thalassemia iron overload

A 
Endocrine dysfunction: hypogonadism, hypo parathyroiism, hypothyroidism
Diabetes
Bony overgrowth
Cardiac disease
Liver disease; cirrhosis, HCC
52
Q

What are the ways we can reduce iron overload

A

Iron chelation

53
Q

What are the 3 types of treatment for iron chelation

A

Desferrioxamine
Desferasirox
Deferiprone

54
Q

What is the acute presentation of thalassemia

A 
Infection
Heart failure
Diabeted
Hypoadrenal crises
Hypocalcaemia
55
Q

What is the MCV in sickle cell disease

A

Normal

56
Q

What is the mcv in thalasemia

A

Microcytic

Blood Disorders (9 decks)

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