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FINALS - HAEM > Haeminoglopathies > Flashcards

Haeminoglopathies Flashcards

1
Q

what chains make up HbA (most abundant)

A

2 alpha 2 beta globin chains

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2
Q

what chains make up HbA2

A

2 alpha 2 delta chains

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3
Q

what chains make up HbF

A

2 alpha 2 gamma

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4
Q

which chromosome codes for alpha globin

A

16

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5
Q

which chromosome codes for beta globin

A

11

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6
Q

which countries are more likely to be affected my thalassamia

A

mediterranian, north africa, china, vietnam

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7
Q

symptoms thalassaemia

A

microcytic anaemia // jaundice, gallstones, splenomegaly (haemolysis) // poor growth // expanded forehead (bone marrow)

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8
Q

how many genes account for alpha Hb

A

4

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9
Q

what type of Hb is affected in alpha thalassaemia

A

all - HbA, HbA2, HbF

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10
Q

how many genes are affected in alpha-trait thalassaemia

A

1 (aa/a-) or 2 (a-/a-)

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11
Q

bloods alpha-trait thalassaemia

A

hypochromic, microcytic - normal Hb

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12
Q

genes affected in haemoglobin H disease

A

3 defective genes (a-/–)

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13
Q

bloods and symptoms haemoglobin H disease

A

hypochromic, microcytic // excessive HbF // splenomegaly + jaundice

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14
Q

genes hydrops fetalis

A

all 4 alpha genes affeceted (–/–)

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15
Q

symptoms hydrops fetalis

A

death in utero

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16
Q

mx alpha thalassaemia

A

bone marrow transplant

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17
Q

inheritence beta thalassaemia trait

A

recessive

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18
Q

mutation in beta-thalassaemia trait

A

point mutation –> reduced (B+) or absent (B0) production of beta globin

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19
Q

what type of Hb is affected in beta thalassaemia

A

HbA only (a2b2)

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20
Q

bloods beta trait thalassaemia

A

mild hypochromic, microcytic anaemia (VV low MCV compared to slight low Hb) // raised HbA2 as compensation

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21
Q

what genes are affected in beta-trait thalassaemia

A

still have one fully function B gene eg (B/B+ or B/B0)

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22
Q

genes affected beta-intermediate thalassaemia

A

some production but both genes affected (B+/B+ or B0/B+)

23
Q

genes affected + consequences beta-thalassaemia major

A

both genes have no production (B0/B0)–> absence of beta globulin chains

24
Q

symptoms beta-thal major

A

presents in first month of life // failure to thrive // splenomegaly

25
Q

bloods beta-major thal

A

raised HbA2 + HbF // no HbA

26
Q

mx beta-thal major

A

repeat transfusion // transplant

27
Q

RF + mx of repeat transfusions

A

iron over load + death // iron chelating therapy eg desferrioxamine

28
Q

what globin chain is affected in sickle cell anaemai and what Hb is formed as a result

A

point mutation B chain to make HbS

29
Q

sickle cell trait genes

A

(B/Bs)

30
Q

symptoms sickle cell trait

A

may get symptoms at high altitude, can still form some normal HbA

31
Q

genes sickle cell disease

A

hbSS (Bs/Bs)

32
Q

what is sickle cell protective of

A

malaria - common in afro-carribean people

33
Q

risks with sickle cell disease

A

blood vessel infarction

34
Q

invx sickle cell disease

A

Hb electrophoresis (screened for in newborn heel prick)

35
Q

bloods sickle cell anaemia

A

low hb, microcytic, hypochromic, haemolysis –> bilirubin // blood film

36
Q

symptoms sickle cell anaemia

A

hyposplenism, jaundice, sickle crisis

37
Q

longterm mx sickle cell anaemia

A

hydroxyurea (increased HbF)

38
Q

when does sickle cell anaemia present

A

first few months of life (when HbF falls)

39
Q

what vaccine do sickle cell patients need

A

pneumococcal every 5 years (bc of hyposplenism)

40
Q

4 main type of sickle crisis

A

thrombotic or painful // acute chest // aneamic (aplastic or sequestration) // infective

41
Q

what can cause thrombotic. painful/ vaso-oculsive crisis

A

infection, dehydration, low PO2 (eg altitude)

42
Q

invx thrombotic crisis

A

clinically

43
Q

sites of thromotic sickle crisis

A

AVN of hip, hand and foot (kids), lungs, spleen, brain

44
Q

what is acute chest crisus

A

vaso-occlusion of pulmonary vasculature –> infarction of lungs

45
Q

symptoms + findings acute chest crisis

A

SOB, chest pain, CXR infiltrates, hypoxic

46
Q

mx acute chest chest crisis

A

pain relief // o2 // abx // transfusion

47
Q

what is sickle aplastic anaemic crises + what bloods are seen

A

parvovirus –> bone marrow suppression –> low Hb + low reticuloytes

48
Q

what is sickle sequestrian anaemic crises + what bloods are seen

A

occlusion in spleen or lungs –> pooling of blood –> worsening anaemia –> increased reticulocytes

49
Q

mx sickle cell crisis

A

opioids, fluid, O2 (+/-abx_ // blood transfusion // exchange transfusion

50
Q

when is blood transfusion indicated in sickle cell crisus

A

severe or symptomatic anaemia // pregnancy // pre-operative

51
Q

effect of blood transfusion on HbS

A

does not rapidly reduce

52
Q

indications exchange transfusion sickle cell crisis

A

acute vaso-occlusive crisus eg stroke, ACS, organ failure, spleen sequestion

53
Q

effect of exchange transfusion onHbS

A

rapid fall in HbS

FINALS - HAEM (18 decks)

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