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Inherited Haemoglobin Disorders Flashcards

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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

Study These Flashcards
A 
Cough 
SOB 
Chest pain 
Rib pain 
Fever
24
Q

What will the CXR show in someone with acute chest syndrome

Study These Flashcards
A

Consolidation

Infiltrates

25
What is the management for acute chest syndrome
Transfusion
26
What can sickle cell disease lead to if chronic
``` End organ damage: Chronic kidney disease Chronick sickle lung Right heart failure Cardiomegaly Retinopathy Gallstone Leg ulcers ```
27
What is the management of chronic sickle cell disease
Education Support Screening: in children with cranial doppler for stroke, adults with echocardiography for pulmonary hypertension
28
What are the other interventions for sickle cell
``` Folic acid Analgesia Penicillin prophylaxis Blood transfusion Hydroxycarbamide- for severe recurrent painful virses or acurte chest syndrome ```
29
What is alpha thalassemia
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
How many alpha globin genes are there in alpha chains
2
31
In total then how many alpha genes is there in one rbc
4 (2 alpha gene in 1 alpha chain and there are 2 alpha chains in total) this makes up 4 genes)
32
What is the type of alpha thalassemia according to
How many alpha chains are deleted
33
What is the deletion of 1 alpha gene called
Heterozygous a+
34
What is the deletion of 1 alpha genes from both alpha genes
Homozygous a+ (-a/-a)
35
What is the deletion of 2 alpha gene from one alpha chain
Heterozygous a- (- -/aa)
36
What is the deletion of 2 alpha gene and 1 alpha gene from alpha chain
( - -/- a) haemoglobin h disease
37
What is the deletion of 4 alpha genes in total
- - / - - hb barts hydrops
38
What does hb barts hydrops result in
Still birth
39
What features does heterozygous a+, ao and homozygous a+ result in
Low MCV
40
What is beta thalassemia
Reduction of beta globin chain production
41
What is b0 mutations result in
Total loss of beta chain production from the gene
42
What does b+ mutation result in
Partial reduction of beta chain production from the gene
43
How many beta genes does one beta chain have
1
44
What is b/b0
B thal trait
45
What is b0/b0
Beta thalasemia major
46
What is b0/b+
Beta thalassemia intermedia
47
What happens when you have absent or reduced beta chain production
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
What is the presentation of beta thalassemia at birth
Healthy as they have hbf and become anaemic as hbf reduces and present with failure to thrive
49
What is the management of beta thalassemia
Blood tranfusion to reverse progressive anaemia
50
What is the complication of blood transfusion
Iron overload
51
What are the complications of beta thalassemia iron overload
``` Endocrine dysfunction: hypogonadism, hypo parathyroiism, hypothyroidism Diabetes Bony overgrowth Cardiac disease Liver disease; cirrhosis, HCC ```
52
What are the ways we can reduce iron overload
Iron chelation
53
What are the 3 types of treatment for iron chelation
Desferrioxamine Desferasirox Deferiprone
54
What is the acute presentation of thalassemia
``` Infection Heart failure Diabeted Hypoadrenal crises Hypocalcaemia ```
55
What is the MCV in sickle cell disease
Normal
56
What is the mcv in thalasemia
Microcytic

Blood Disorders (9 decks)

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