Haemoglobinpathies ad Haemolytic Anemia Flashcards
defect c
- structurally normal globin chain just wrong number reduced expression or absence egg THALASAISN 20%
abnornallyit of the chain themselves therefore reduced stability e.g SICKLE CELL 5% - autosomal reccsive both
types of Hb
F 2a 2 y
a globin chains
chromosome 16
a 2paternal 2 maternal
b chromosome 11
different globin genes combine to form different hb tetreamers
talalsemia
normal expression of glib 1;1a to non a globin chain
abnormalities like a thalasaema (a chain defect) b the. (b gene defect) a more come in far was population and b in Middle East
severity a
2 chromes 16 parent 16 maternal
more severity more genes deleted, all deleted = hydros fetalis utero death unable to deliver o2
1 melted = single carrier state , asytomiaitc
2 dated a t trait = minimal b microcytic and hypochromati c
3 deleted Hbh disease = where b form tetramers of globing resoling in microcytic hypo chromatic area w target bodies mdoeralty dsevre
b
gene mutation
gene deletion
b0 absolute absence
b+ reduced rate globin production
b th moire/trairt = asymptotic , very microbic and hypo chromic resembles a thalsaema but check ethnicity HETEROXYGOUES
b tha intemdiea , sevre but doesnt need transfusion b body will deal with it resembles Hbh
bt major homozygous v serve transfusion dependent HbF ok but HbA problem
thalasne c
hypochromtic micorcytoc
dark circle white ring then dark centre
nucleated B cells b ^^ RBc produced
RES removes them and haemolytic anaemia happens
shorted RBC survival prematurely removed b defective
conseuenw
normally Only should be made in bones but extra medullary haemopoiest occurs to make upper v b so in spleen, hepatomegaly and expansion of bone marrow cortex so kid has short stature and skeletal abnormalities swelling bones of face
- hypoxia so ^ EPO more defect so c iron overload c premature death
- b iron ^ absorbed to make ^^ RBC d hypoxia and RESdestroyign the RBC + b transfusion gives ^^^fe2+ so dead overall reduced life expectancy
treatment
transfusion from chldhood iron chelation (things that bind iron ) folic acid ( RBC high dependent ) vaccinated holistic care to pick up their complications -stem cell transplantation -preconsuilign and screening
sickle cell
autosome receive point mutation of B globin
valine in place of glutamic acid
in carreie state ok
higher in Africa because protects agent malaria\hmozygous c
only issue do
only issue in low oxygen state (cold/infection)
Hbs form polymers and form polymers and can become normal agaiin but overtime stop and irrevierbale sickle cshaped get stuck in capillaries and cause pccluiosnn i c VASOOCCLUIOSN
3 tees
vaso coculsive (mostocmmont) - painful bone crisis and organ blockage sickle chest syndrome b blocking capiaires of heart and spenomegally by blocking the spleen
aplastic bone marrow stop working (triggered by aprvocvirus in kids bone marrow stop main cels)
haemolytic
end state organ failure due to o2 deprivation
symptoms
reintipahy splecnic atrophy avascular necrosis acute chest syndorme stroke osteomyelitis skin ulcers kidney infarcts priasprism (unwanted painful male erection)
haemolytic anaemia
intravasuclr (bv ) or extra (RES)
the rate of haemolysis capacity increased 6 times the fold the rate of bone marrow to compendatethe anaemia
Haemolytic anaemia
inherited ; glysosysi defect /pentose pathway/membrane protein/Hb defect
acquired; mechanical/antobody damage/oxidant damage/zeymes damage.e.g snake bites
