haem vol 2

Question 1

discuss thalassaemias

Answer 1

alpha and beta

beta- chromosome 11 (2 alleles)
alpha- 16 (4 alleles)

both autosomal recessive.

if Alpha- have lots of excess beta- they tetramise- but have abnormal O2 dissasoc curves.

in beta- can be B0 or B+ (+- partial function, 0- no function)
B thalassaemia MAJOR- B0/B0
Intermedia- B0/B+ Or B+/B+
MINOR- B/B+ or B/B0 – some is produced normally.

Question 2

what kind of anaemia do you have in B thalassaemia

Answer 2

Low MCV, Microcytic.

Question 3

pathophysiology of beta thalassaemia

Answer 3

alpha chains free in RBC- clump

RBC dies, Haemolysis into plasma. excess of bili and Fe leads to jaundice and 2’ haemochromatosis.
can be hypoxia- BM expands (espesh in the face and skull) and hepaosplenomegaly.

Signs and symptoms- appear after 3-6ish months (after fetal hb gone)
classic anaemia- jaundice- hepatosplenomeg- growth retardation- haemochromocytosis signs.

Ix:
FBC + labs- low mcv, high ferritin, high serum fe.

Hb electrophoresis- low Hba(or B depending on the thal)

Question 4

treatment of thalassaemia

Answer 4

alpha-
minor anaemia or moderate if 3 alleles are missing (4 is essentially incompatable with life) Rx as you would

BT major- periodic blood Tx- add iron chelating agent
splenectomy.

Question 5

what is pancytopaenia + etiology of it

Answer 5

decreace in all 3 haemotologic cells lines (RBC, PLT, WBC)

Dec production-
nutritional deficiencies, bone marrow faliure (autoimmune, hepatitis, HIV, CMV, EBV) Or malabsorbtion

Bone marrow infiltration- malignancies (lymphoma, leukaemia, multiple myeloma) or granulomatous disorders

Increaced destruction-
autoimmune (SLE, RA), splenic sequestration (liver chirrosis, HIV)

Question 6

signs and symptoms, epidaemiology, and evaluation of Pancytopaenis

Answer 6

bimodal presentation - children then adults in 3rd + 4th decades.
2:1 male: female.

Signs and symptoms: presentation of deficiency of any of the cell lines.

Ix:
complete bloods, reticulocite count. B12 and folate.

bone marrow biopsy
cytogenetic testing (FISH, karyotype).

Question 7

treatment and prognosis of pancytopaenia

Answer 7

Rx: dependent on cause- managing the cause will manage the presentation.

prog:
dependant on underlying condition.

Question 8

indications for splenectomy + complications of having a splenectomy

Answer 8

splenic trauma, hypersplenism, autoimmune haemolysis.

complications:
lifelong increaced risk of infection (encapsulated organisms)

spleen contains macrophages- which phagocytose- loose this ability and can be prone to infection

also causes release of a lot of platelets, meaning that early mobilisation is important

Question 9

management of hyposplenism/ splenectomy

Answer 9

regular immunisations- infection risk reduction

lifelong prophylactic abs (penicillin V or erythro)

medical alert bracelets

significant safeguarding Re: infection risk

risk of severe malaria + advise on meticulous prophylaxis.

Question 10

what are the types of splenism + the causes

Answer 10

asplenia- abscence of a normal spleen
hyposplenism- reduced functioning but not as bad as asplenism

functional asplenia- e.g sickle cell – where it is present but does not work well.

congenital
aquired (surgical, spleen distroying diseases)

Question 11

investigations for hyposplenism

Answer 11

blood smear test- howell-jolly bodies, pappenheimer bodies, terget cells and irregular contracted red blood cells.

Question 12

why is the spleen affected or removed as a treatment for haemotological issues

Answer 12

extravascular haemolysis-
macrophages perform haemolysis - if significant amounts happening —> splenomegaly + jaundice.

Question 13

definition of neutropaenic sepsis

Answer 13

temp greater than 38 OR any symptoms / signs of sepsis in a person with absolute neutrophil count of 0.5x10’9 or lower

Question 14

pathophys of how neutropenia predisposes to infection + common causes

Answer 14

neutrophils are first line/ innate defence

if absent, initial inflamatory response is deminished, allowing greater proliferation.

common causes of neutropenia- chaemo, radio, bone marrow faliure, hypersplenism, iatrogenic.

Question 15

risk factors for neutropaenic sepsis

Answer 15

> 60, advanced malignancy, prev neutropaenic sepsis, musositis, comorbid. indwelling central venous catheters, seds,

clear link with severity and duration of neutropaenia and developing sepsis.

Question 16

management and investigations of neutropaenic sepsis + mortality rate

Answer 16

ABCDE management
GCSF can be used to boost bone marrow cell production.

Ix like any other sepsis

sepsis 6
blood culture, lactate, urine output.

high flow 02, fluids, antibiotics

in hospital mort of 10%

Question 17

what is leucocytosis

Answer 17

a broad term for elevated whilte blood cell count– typically above 11x10’9

a relatively common thing-

neutrophils rise due to acute stressors (infection, just genreal stress, etc)

lymphocytosis- elevated in kids due to rapid dev of immune system, in adults - usually viral causes.

Question 18

invstigation and management of leucocytosis

Answer 18

get a differential of the wbc count to tell which parts are elevated.

look to prev CBC to see if simalar or different.

if over 100 look at leukaemia.- can be a clinical emergency (leukostasis)

treat the cause of the individual elevation.

perform a medication reconsiliation as many meds can cause nonspecific leucocytosis.

if not symptomatic dont need to do blood cultures.

Question 19

what is a leukemoid reaction

Answer 19

increaced white blood cell count (>50 x10’9) which is a response to stress or infection not malignancy.

Question 20

causes of laukaemoid reaction + management

Answer 20

severe hemorrhage (espesh retroperitoneal)

drugs (sulfa, dapsone, glucocorticoids, G-CSF), ethylene glycol intoxication, infections, asplenia, DKA, Organ necrosis, ischemic colitis

Rx:
usually benign and not dangerous in of themselves.
resolve the issue causing.

if caused by drug- remove offending drug- otherwise consider antineoplastic drugs.

differentiate from leukaemia by the cells being more mature in LR. no spleno megaly, no blasts in the bone marrow.