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Haemoglobin Disorders II Flashcards

1
Q

Sickle Cell disease

Sickle cell disease is a group of haemoglobin disorders in which the __________ is _________

A

sickle β-globin gene is inherited.

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2
Q

Sickle Cell disease

The sickle β-globin abnormality is caused by substitution of ______ for _________ in position ____ in the β globin-chain.

A

glutamic acid; valine

6

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3
Q

Sickle Cell disease

__________________ is the most common while the _______________________ also cause sickling disease.

A

Homozygous sickle cell anaemia (HbSS)

doubly heterozygote conditions of HbSC and Hb Sβthal

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4
Q

Homozygous Disease: Hb SS; Sickle cell anaemia.

The inheritance of 2 HbS gene one each from both parent.

T/F

A

T

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5
Q

Homozygous Disease: Hb SS; Sickle cell anaemia.

The disease was first described in 1904 by a Chicago based physcian, Dr. James Herrick who reported “ _______ and ______ shaped” red blood cells in a young man of _______ origin.

The patient had come to Dr. Herrick with complaints of shortness of breath, heart palpitations, abdominal pain, and _________ in his muscles.

He also felt _______ all the time, had _______, experienced attacks of ______, and had _____ on his legs. After noting these symptoms, the doctor took samples of his blood

A

peculiar elongated and sickle

Negroid

aches and pains; tired; headaches

dizziness; ulcers

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6
Q

Genetic basis of Sickle cell anaemia (HbSS)

•__________ mutation on the _____gene at _____ nucleotide, ____ Codon, aa in position _____, resulting in ______ instead of ________

• For comparison, Hb C a mutation at the same spot, leads to _____ instead of ———-

A

Single point

β

17th; 6th; 6

valine; glutamine

lysine; glutamine

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7
Q

Haemoglobin S production arises from _______________________ gene

Differ from HbA by ___________

A

an altered (mutated) “S” gene.

one amino acid substitution.

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8
Q

Pathogenesis

The substitution of a valine for a glutamine results in decreased _______ of (oxy or deoxy?) -HbS compared to (oxy or deoxy?) -HbA.

A

solubility ; deoxy

Deoxy

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9
Q

Pathogenesis

When _____genated, HbS tetramers form ———- which associate into _____ that ——————

A

deoxy

polymers

bundles

precipitate in the red cell

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10
Q

As long as HbS is in the oxygenated state it is (subtle or insoluble?)

A

solube

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11
Q

As long as HbS is in the _____genated state it is solube

A

oxy

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12
Q

Upon de-oxygenated, Hb becomes _______ and _______, _____ are formed which leads to _____.

Blood becomes more ________

A

insoluble and polymerise

tactoids

sickling

viscous

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13
Q

Consequences of polymerization of haemoglobin

Sickling of red cells

Loss of red blood cell ————-
__________ of red blood cells
________ of small vessels
_______damage

A

deformability

Haemolysis

Vaso-occlusion

End organ

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14
Q

Pathophysiologic effects of sickled cells.

Red cells carrying Hb S constantly ___________ on the arterial side to ________ on the venous side. Eventually, some cells become __________

A

switch from normal shape

sickled shape

irreversibly deformed,

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15
Q

Pathophysiologic effects of sickled cells.

Eventually, some cells become irreversibly deformed, resulting in:
1. ___________
2. ________ of ___________

A

Extra-vascular haemolysis

Compromise of micro circulation

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16
Q

Pathophysiologic effects of sickled cells.

  1. Extra-vascular haemolysis.

Conscientious function of the _____ to remove damaged or deformed cells targets the cells that ___________________________. The cells are trapped and removed by _________.

A

spleen

cannot traverse the narrow openings of the splenic sinusoids

macrophages

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17
Q

Pathophysiologic effects of sickled cells.

  1. Extra-vascular haemolysis.

◦ The deformed cells compromise the _______ of the spleen causing __________ and eventual _________

◦ Replacement of cells carrying HbS with the same abnormal cells causes ______ because of continuous _______ of the cells by the spleen and, later, by the ———-.

A

blood supply

repeated small infarctions

loss of splenic function.

anaemia; early destruction ; RES

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18
Q

Pathophysiologic effects of sickled cells.

Compromise of Microcirculation.

As red cells carrying HbS become ______ and lose their ability to ________. They create a ______ that ________.

A

sickled

traverse narrow passages; blockage

obstructs blood flow into the tissue

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19
Q

Pathophysiologic effects of sickled cells.

Compromise of Microcirculation.

The local anoxia that results from the blockage increase ____________and further aggravates the ________ and ___________ of abnormal haemoglobin.

A

oxygen extraction from the trapped red cells

deoxygenation and polymerization

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20
Q

Pathophysiologic effects of sickled cells.

Compromise of Microcirculation.

The compensatory action of the adjacent vessels releases more oxygen from the cells. This _____eases sickling and causes ————; of the situation.

A

incr

exacerbation

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21
Q

Pathophysiologic effects of sickled cells.

Compromise of Microcirculation.

Tissue damage from lack of oxygen is the cause of the ________ and _______ characteristic of sickle cell crises.

Vaso-occlusion promotes ___________________ injury

A

acute and chronic pain

ischemia-reperfusion (I-R)

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22
Q

Impaired rheology of the blood and aggregation of sickle erythrocytes with neutrophils, platelets, and endothelial cells causes stasis of blood flow and is referred to as _________

A

vaso-occlusion.

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23
Q

Factors promoting sickling

A

extreme heat/cold; cold

Dehydration

Acidosis

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24
Q

Factors promoting sickling

Hypoxemia: _______,________ ,______ , stasis of the circulation, , _______

A

altitude, operations, obstetric delivery,

violent exercise

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25
Q

Factors opposing sickling

The presence of non sickling haemoglobin:

 Hb_____
 Hb ______

A

F

A

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26
Q

Sickle-cell conditions are inherited from parents in much the same way as blood type, hair color and texture, eye color, and other physical traits.

T/F

A

T

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27
Q

The types of haemoglobin a person makes in the red blood cells depend on what hemoglobin genes are inherited from his parents

T/F

A

T

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28
Q

Inheritance

Sickle cell anemia is inherited in

an (Xlinked or autosomal?). (Dominant or recessive?) pattern, which means that __________ of the gene in each cell have mutations .

A

autosomal recessive

both copies

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29
Q

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

T/F

A

T

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30
Q

If one parent has sickle-cell anaemia (SS) and the other has sickle-cell trait (AS), there is a ____% chance of a child’s having sickle-cell disease (SS) and a ____% chance of a child’s having sickle-cell trait (AS).

A

50; 50

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31
Q

When both parents have sickle-cell trait (AS), a child has a ____% chance of sickle-cell anaemia (SS)

A

25

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32
Q

Clinical features of SS

Clinical features are of _________ punctuated by _______.

A

severe haemolytic anaemia

crises

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33
Q

Clinical features of SS

The symptoms of anaemia are often mild in relation to the severity of the anaemia because ________________________

A

HbS gives up oxygen (O2) to tissues relatively easily compared with HbA, its O2 dissociation curve being shifted to the right.

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34
Q

Clinical features of SS

The clinical expression of Hb SS is very variable, some patients having an almost normal life, free of crises but others develop severe crises even as infants and may die in early childhood or as young adults.

T/F

A

T

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35
Q

Sickle cell Anaemia: Consequences of Haemolysis

__________
_________
____________
——————-

A

Anaemia
Jaundice
Gallstones
Vasculopathies

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36
Q

Sickle cell Crises may be:
______ or _______

A

vaso-occlusive

Anaemic

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37
Q

Sickle cell Crises may be:

vaso-occlusive: eg ______

A

Pain

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38
Q

Sickle cell Crises may be:

Anaemic: _____,_____,_____,______

A

Sequestration, Aplastic, Hyperhaemolytic Megaloblastic.

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39
Q

Vaso-occlusive (Pain) crises

These are the most frequent and are precipitated by such factors as ———-,———,———,——— (e.g. altitude, operations, obstetric delivery, stasis of the circulation, exposure to cold, violent exercise).

Infarcts can occur in a variety of organs including the _______(____,____,____ are commonly affected), the ——— and the _________

A

infection, acidosis, dehydration or de-oxygenation

bones

hips, shoulders and vertebrae

the lungs and the spleen.

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40
Q

Vaso-occlusive (Pain) crises

The most serious vaso-occlusion is of the _____ ( _________ occurs in 7% of all patients) or _________.

A

brain

Ischemic stroke

spinal cord

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41
Q

Vaso-occlusive (Pain) crises

________________________ detects abnormal blood flow indicative of arterial stenosis. This predicts stroke in children. This can be largely prevented by ______________ in these cases.

A

Transcranial Doppler ultrasonography

regular blood transfusions

42
Q

Vaso occlusive crises

_______
_______
________

A

Acute and chronic Pain

Painful dactylitis

Priapism

43
Q

The ‘_______’ syndrome (painful dactylitis caused by infarcts of the _________) is frequently the first presentation of the sickle cell disease and may lead to __________

A

hand-foot

small bones

digits of varying lengths.

44
Q

_____________ is frequently the first presentation of the sickle cell disease

A

painful dactylitis

45
Q

Vaso-occlusive crises

PRIAPISM
Priapism is the ______,______,_________ erection of the penis.

It is relatively common in ________ with sickle cell anemia.
The onset may be in ________ or _____.

Recurrent or severe episodes can result in future ________.
Treatment is often not satisfactory

A

persistent, painful purposeless

young males

early childhood or adolescence

impotence

46
Q

Visceral sequestration crises

These are caused by sickling within organs and _______, often with a severe exacerbation of _____.

A

pooling of blood

anaemia

47
Q

Visceral sequestration crises

The _____________ is a feared complication and the most common cause of death after puberty.

A

acute sickle chest syndrome

48
Q

Visceral sequestration crises

The acute sickle cell syndrome

It presents with ______, falling arterial Po2, _________, and _______ on chest X-ray.

Treatment is with _______ , ______, and _______ if necessary.

A

dyspnoea

chest pain and pulmonary infiltrates

analgesia, oxygen exchange transfusion and ventilatory support

49
Q

Aplastic crises

These occur as a result of infection with _______ or from _______ deficiency and are characterized by a _________ in ______, usually requiring transfusion.

A

parvovirus

Folate

sudden fall in haemoglobin

50
Q

Aplastic crises

They are characterized by a fall in ————- as well as _________.

A

reticulocytes

haemoglobin

51
Q

Hyperhaemolytic crises

These are characterized by an increased ____________ with a fall in ______ but rise in _____________ and usually accompany a __________

A

rate of haemolysis

haemoglobin

reticulocytes

painful crisis.

52
Q

Hyperhaemolytic crises Also complicates transfusion in some cases.

T/F

A

T

53
Q

Other Clinical Features (Organ
Complications)

Skin:_____ of the _______ are common, as a result of vasculopathy resulting in _______ and ________. It is also seen in many haemolytic anaemia.

GIT: The spleen is ______ in infancy and early childhood but later is often _______ as a result of repeated infarcts ( ________ ).

A

Ulcers; lower legs; vascular stasis and local ischaemia

enlarged; reduced in size

autosplenetomy

54
Q

Other Clinical Features (Organ
Complications)

The Liver is usually _______ throughout the years. A lot of abdominal crises are related to the enlarged liver. Chronic damage to the liver may occur through ____________________.

______,__________, and ________ following viral infections
.

A

enlarged

micro infarcts SCD hepatopathy.

Hepatitis, fibrosis and cirrhosis

55
Q

Other Clinical Features (Organ
Complications)

The gall bladder: __________ tend to form like in all haemolytic conditions which can lead to chronic ________ and ———— of the common bile duct.

A

Pigment gall stones

Cholelithiasis

obstruction

56
Q

Peptic ulceration is commoner in SCD than in normal population.

T/F

A

T

57
Q

Other Clinical Features (Organ
Complications)

Avascular necrosis of femoral head is a hip joint problem where the blood supply to the _________ (____ portion) of the joint is reduced or obliterated. This causes this portion of the bone to necrose and collapse

A

femoral head (ball

58
Q

Laboratory Findings

Blood film: ______chromic (haemoglobin still stains)

_____cytosis +++ (polychromatic macrocytes)

______cytosis (_____ cells, _____ cells and ______cytes). _______ red cells

A

Normo

Aniso; Poikilo

Sickle; target, acantho; Nucleated

59
Q

Laboratory Findings

The haemoglobin is usually ______g/dL – low in comparison to symptoms of anaemia.

Bone Marrow- __________ to __________ hyperplasia (to compensate for lost RBCs)

A

6-9

normoblastic/megaloblastic

60
Q

Laboratory Findings

Features of splenic atrophy (hypofunction):

_______Bodies; __________, _______ bodies, _________ bodies

A

Inclusion

Basophilic Stippling, Pappenheimer Bodies, Howell-jolly bodies.

61
Q

Laboratory Findings
1. 2.
The haemoglobin is usually 6-9g/dL – low in comparison to symptoms of anaemia.
Blood film: Normochromic (haemoglobin still stains) Anisocytosis +++ (polychromatic macrocytes) Poikilocytosis (Sickle cells, Target cells and acanthocytes). nucleated red cells
Features of splenic atrophy (hypofunction): Inclusion Bodies; Basophilic
Stippling, Pappenheimer Bodies, Howell-jolly bodies.
Bone Marrow-normoblastic/megaloblastic hyperplasia (to compensate for lost RBCs)

A
62
Q

Haemoglobin electrophoresis:

performed under (acidic or alkaline?) condition ( pH ____) using _______ in _____ buffer

A

alkaline

8.4

cellulose acetate

TRIS

63
Q

Haemoglobin electrophoresis:

Principle:
a. Using a RBC _____, bands can be quantitated by scanning ______

b. HbS runs with Hb__ (which _________)

c. C migrates with ____ ((more or less?) predominant) and _____

A

lysate; densitometry

D; does not sickle

E; more ; A2

64
Q

Electrophoresis uses ________ to separate _______________________ in the blood. Hemoglobin types have different electrical charges and move at different speeds.

A

electrical current

normal and abnormal types of hemoglobin

65
Q

Hemoglobin electrophoresis

In Hb SS, Hb____ will be the predominant band, (little or no?) Hb A is detected.

The amount of Hb F is ____ and is usually ___-___%, larger amounts are normally associated with a milder disorder.

A

S; No

variable; 5-15

66
Q

Hemoglobin electrophoresis

Trait (HbAS) is generally asymptomatic, carrying mostly Hb__(____%) and Hb__ (_____%)

A

A; 65

S; 35-40

67
Q

Hemoglobin electrophoresis

Always less than ____% abnormal Hb if one normal gene

A

50

68
Q

Factors affecting the result of hemoglobin electrophoresis are

 Correct _____,
 Correct _________ of the buffer
 The ________ of the buffer
 The _____ of the _______

A

pH; concentration

temperature

quality; carrier membrane

69
Q

Management of SCD

  1. Prophylactic –avoid those factors known to precipitate crises, especially _______,______,________,________, and ________

2._________ (e.g. 5 mg once daily).
3. Good general nutrition and hygiene.

  1. _________ ,_______, and _______ vaccination and regular ________ are effective at reducing the infection rate with these organisms and should be strongly encouraged.
    5.
A

dehydration, anoxia, infections, stasis of the circulation and cooling of the skin surface.

Folic acid

Pneumococcal, Haemophilus and meningococcal

oral penicillin

70
Q

Management of SCD

Prophylactic antibiotics: _________ should start at diagnosis and continue at least until puberty.

_________ vaccination is also given as transfusions may be needed.

A

Oral penicillin

Hepatitis B

71
Q

Management of SCD: MEDICATIONS

______

_______
________

_______

_______

A

Hydroxyurea (Droxia, Hydrea, Siklos).

•Crizanlizumab (Adakveo).

L-glutamine oral powder (Endari).

•Voxelotor (Oxbryta)

•Pain-relieving medications.

72
Q

Management of SCD: MEDICATIONS

Hydroxyurea : Daily hydroxyurea reduces ______________ and might reduce the need for _________ and ________

A

the frequency of painful crises

blood transfusions and hospitalizations.

73
Q

Management of SCD: MEDICATIONS

•Pain-relieving medications. ______ to help relieve pain during sickle cell pain crises. _____ and ______ is a challenge.

A

Narcotics

Opioid tolerance and addiction

74
Q

Management of SCD: MEDICATIONS

•L-glutamine oral powder (Endari). The FDA recently approved this drug for treatment of sickle cell anemia. It helps in reducing the frequency of pain crises.
•Crizanlizumab (Adakveo). The FDA recently approved this drug for treatment of sickle cell anemia. Given through a vein, it helps reduce the frequency of pain crises. Side effects can include nausea, joint pain, back pain and fever

•Voxelotor (Oxbryta). The Food and Drug Administration (FDA) recently approved this oral drug to improve anemia in people with sickle cell disease. Side effects can include headache, nausea, diarrhea, fatigue, rash and fever

T/F

A

T

T

T

75
Q

Hydroxyurea (____,______,______).

•Crizanlizumab (_____).

L-glutamine oral powder (_____).

•Voxelotor (_________)

A

Droxia, Hydrea, Siklos

Adakveo

Endari

Oxbryta

76
Q

Other treatment options of SCD

Blood transfusions. This increases the number of _____________, which helps reduce symptoms and complications.

•Risks include

1)_________ to the donor blood, which can make it hard to _____________

2)________

3)excess _____ buildup in the body. Because excess iron can damage the heart, liver and other organs, with regular transfusions is the need for treatment to ______________

A

normal red blood cells

an immune response

find future donors (alloimmunization)

infection

iron; reduce iron levels.

77
Q

Other treatment options of SCD

Stem cell transplant. Also known as ___________, this procedure involves ________________________________________________.

The procedure usually uses a matched donor, such as a _____, who doesn’t have sickle cell anemia.
.

A

bone marrow transplant

replacing bone marrow affected by sickle cell anemia with healthy bone marrow from a donor

sibling

78
Q

Other treatment options of SCD

•Because of the risks associated with a bone marrow transplant, the procedure is recommended only for people, usually ______, who ( have or do not have?) significant symptoms and complications of sickle cell anemia.

The procedure requires a (short or long?) hospital stay.
After the transplant, patient will receive drugs to help prevent ____________. Even so, it might still happen, leading to life-threatening complications.

A

children

Have

Long

rejection of the donated stem cells

79
Q

Sickle Cell trait (Hb AS)

This is a (benign or malignant?) condition with _____ anaemia and _____ appearance of red cells on a blood film.

A

Benign

no; normal

80
Q

Sickle Cell trait (Hb AS)

__________ is the most common symptom and is thought to be caused by ______ of the ________

A

Haematuria

minor infarcts of the renal papillae.

81
Q

Sickle cell trait (Hb AS)

Hb S varies from _____ to _____% of the total haemoglobin.

Care must be taken with anaesthesia, _______ and at (low or high?) altitudes.

A

35; 45

pregnancy

High

82
Q

Combination of haemoglobin S with other genetic defects of haemoglobin (Compound heterozygotes)

The most common of these are ____________, and the ____________

A

Hb S/β-thalassaemia

sickle cell/C disease.

83
Q

Combination of haemoglobin S with other genetic defects of haemoglobin (Compound heterozygotes)

In Hb S/β-thalassaemia, the MCV and MCH are (lower or higher?) than in homozygous Hb SS.

The clinical picture is of sickle cell anaemia; _________ is usual.

A

Lower

splenomegaly

84
Q

Combination of haemoglobin S with other genetic defects of haemoglobin (Compound heterozygotes)

Patients with Hb SC disease have a particular tendency to _________ and ______, especially in _______.

A

thrombosis and pulmonary embolism

pregnancy

85
Q

Hb SC

In general, when compared with Hb SS disease, they have a (lower or higher?) incidence of retinal abnormalities, (milder or more severe?) anaemia, splenomegaly and generally a (shorter or longer?) life expectancy.

Diagnosis is made by _________, particularly with family studies.

A

Higher

Milder

Longer

haemoglobin electrophoresis

86
Q

Haemoglobin C

HbC is caused by substitution of ______ for _________ in the β-globin chain at the same point as the substitution in Hb __.

A

lysine

glutamic acid

S

87
Q

Haemoglobin C’s point mutation occurs at a different point from the substitution in Hb S

T/F

A

F

Same

88
Q

Haemoglobin C

Hb C tends to form _______ and in the homozygous state (HbCC) there is a ____________ with marked _______ formation, cells with _____ shape and ________.

The spleen is _______.

A

rhomboidal crystals

mild haemolytic anaemia

target cell

rhomboidal; microspherocytes

enlarged

89
Q

The carriers (AC) show (plenty or a few?) target cells

A

A few target cells only

90
Q

Haemoglobin D

This is a group of variants all with the same __________ that differ from the normal _________

A

electrophoretic mobility

adult Hb A.

91
Q

Haemoglobin D

Heterozygote (HbAD) show ____ haematological abnormality while homozygote (HbDD) have ___________ and mild to moderate __________

A

no

a mild haemolytic anaemia

spleen enlargement.

92
Q

Haemoglobin D

Co-inheritance of Hb D with Hb S or thalassaemia can produce conditions like ________ (_________ disease) or chronic haemolytic anaemia of moderate severity.

A

sickle cell anaemia

sickle haemoglobin D

93
Q

The most frequent Hb D is _____________

A

Hb D Punjab.

94
Q

Haemoglobin E disease

This the _____ most prevalent haemoglobinopathy worldwide.

This is the most common haemoglobin variant in __________ where it can reach a carrier frequency of ____-____%.

A

3rd

South-East Asia

60-80

95
Q

Haemoglobin E disease

The possible malaria protective effects of this and other inherited haemoglobin abnormalities prevalent in these areas are the main cause of this high prevalence.

T/F

A

T

96
Q

Haemoglobin E disease

In the homozygous state, there is a mild ____cytic, ____-chromic anaemia, ______ red cell survival, _______ MCV, target cells, _____ osmotic fragility.

A

micro

hypo

reduced

reduced

reduced

97
Q

Haemoglobin E disease

HbE can cause serious disease when _________________

A

co-inherited with a beta- thalassaemia mutation.

98
Q

Prenatal diagnosis of genetic haemoglobin disorders

It is important to give _______ to couples at risk of having a child with a major haemoglobin defect.

A

genetic counseling

99
Q

Prenatal diagnosis of genetic haemoglobin disorders

If a pregnant woman is found to have a haemoglobin abnormality, her partner should be tested to determine whether he also carries a defect. When both partners show an abnormality and there is a risk of a serious defect in the offspring, particularly β-thalassaemia major, it is important to offer antenatal diagnosis when possible.

Several techniques are available, the choice depending on ________

A

the stage of pregnancy.

100
Q

Prenatal diagnosis of genetic haemoglobin disorders

Other control strategies

Pre-_____/_____/pre-_____ screening

Pre- _____screening
_______ screening
 ______ counselling

A

school; school

Employment

marital

Population; Genetic

House Hemat (29 decks)

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