anemias (1)by dr.hydi 3rd mbbs-2016.pptx

8/19/2019 Anemias (1)by Dr.Hydi 3rd MBBS-2016.pptx

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AnemiasBy

Dr.Hydi Ahmed

Associate professor of ClinicalPathology


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Normal Hemopoiesis


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ANAEMIADefnition: “Reduction in the

concentration o haemoglobin in theblood below the lower limit o normalor a particular age and sex o anindiidual in a particular enironment!

Value of Haemoglobin less than13.5 g/dl in males, less than 11.5 g/dlin females and less than 15.0 g/dl in

new borns would indicate anaemia


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AD"#$ RE%EREN&E' (% RED )#((D&E##'

_________________________________________________

Male %emale

*************************************************+aemoglobin ,g-dl. /012 3 /412

//12 3 /212

+aematocrit 5 6&7 ,8. 9 ;2< 0=3 9>

R)& count,?// ;@2> ; @2

M&7 ,.

Mean &ell +Ameoglobin


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'CM6$(M' AND 'IN' (% ANAEMIA

'Bmptoms o Anaemia:#eel o haemoglobin at which patient deelops

sBmptoms depends on the rate o deelopment oanaemia1 I haemoglobin has been alling slowlBsBmptoms occur lateand i haemoglobin alls rapidlBsBmptoms occur earlB1 6atient maB present with generaliFed weaGness andeasB atigabilitB1 6alpitation and breathlessness occur i anaemia is

seere or patient has underlBing heart disease1 Anorexia and indigestion are common'igns o Anaemia: 6allor is the main sign1 "sual sites to looG or pallorare the nail bed hands sGin lower conHunctia1 oilonBchia,spoon shaped nails. is seen in iron

defciencB anameia )one deormities occur in thalassaemia maHor #eg ulcers are a eature o sicGle cell anaemia 'Bstolic Murmur maB be audible in pulmonarB area Mild Haundice maB occur in haemolBtic anaemia1 DiJerent other signs and sBmptoms can be ascribedto a specifc cause o anameia


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A''I%I&A$I(N (% ANAEMIA

/1 inetic &lassifcation oAnaemias


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INE$I& A''I%I&A$I(N (%ANAEMIA'

I1 ANAEMIA' D"E $( E?&E''I7E )#((D #(''

,i. Acute blood loss anaemia,ii. &hronic blood loss anaemia

II1 ANAEMIA' D"E $( 6R(D"&$I(N %AI#"RE

,i. +aematenic defciencB: Iron %olic Acid and)/


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III ANAEMIA' D"E $( E?&E''7IE RED &E##' DE'$R"&$I(N ,+AEM(#C$I& ANAEMIA.

/1 +AEM(#C'I' D"E $( RED )#((D &E##'A)N(RMA#I$C ,Intracarpuscular Deect. &ongenitala1 Red blood cells membrane deects: +ereditarB'pherocBtosisb1 EnFBme deects: 1=6D DefciencBc1 +aemoglobinopathies: $halassaemia5 'icGle &ell

Anaemia AcKuiredd1 6aroxBsmal Nocturnal +aemoglobuniria


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M(R6+(#(I& A''I%I&A$I(N (% ANAEMIA'

&auses o MicrocBtic and +Bpochromic Anameias ,M&7 3 #ess than > .1/ 1-Iron DefciencB Anaemia

1


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IR(N DE%I&IEN&C ANAEMIA

Iron defciencB anaemia is the most commoncause o anaemia in eerB countrB o world.

It is the most important cause o a microcBtichBpochromic anaemia in which all the three redblood cell indices ,the M&7 M&+ and M&+&. arereduced and the blood flm shows

small,microcBtic. and pale ,hBpochromic. redcells

$he important causes o microcBtic hBpochromicanaemia are:

)i(Iron defciencB anaemia)ii($halassaemias

)iii('ideroblastic anaemia

)i(Anaemia o chronic disorder


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$he causes o a hBpochromic microcBtic anaemia1 $hese includelacG o iron ,iron defciencB. or o iron release rommacrophages to serum ,anaemia o chronic inammation or

malignancB.1 %ailure o protoporphBrin sBnthesis ,sideroblasticanaemia. or o globin sBnthesis ,Alpha or )eta $halassaemia..


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&A"'E' (% IR(N DE%I&IEN&C ANAEMIA

I1 &+R(NI& )#((D #('':,i. "terine )leeding:

;Menorrhagia ,excessie menstrual bleeding.1 ; 6ostmenopausal bleeding1,ii. astrointestinal )leeding:

; 6eptic "lcer ; )leeding +aemorrhoids

; +ooGworm inestation

; Aspirin or other nonsteroidal anti;inammatorB

drugs ingestion

II1 IN&REA'ED DEMAND:Increased iron demand during inancB

adolescence6regnancB lactation and in menstruating women

III1 MA#A)'(R6$I(N:luten Induced EnteropathB5 astrectomB

I71 DIE$RC:

EspeciallB egetarian diet


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INI&A# %EA$"RE' (% IR(N DE%I&IEN&CANAEMIA

$he patient deelop the general sBmptoms and signs o

anaemia and also show a painless glossitis brittle ridgedor spoon shape nails ,GoilonBchia. dBsphagia ,as a resulto pharBngeal webs..

6atients also show unusual dietarB craing, perertedappetite e1g1 claB eating.

In children the iron defciencB is particularlB signifcant asit can cause irritabilitB poor cognitie unction decline inpsBchomotor deelopment and learning 1 &hild with irondefciencB anameia can also show behaioral problems

oilonBchia: tBpical Lspoon’ shaped nails


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R(N DE%I&IEN&C: #A)(RA$(RC DIAN('I'

heral )lood %indings)i(oglobin is decreased

)ii(ells indices )MVC;MCH;MCHC( are ased

)iii(lood Cells Morphology: Microcytic and chromic red cell morphologB with pencil d poiGilocBttes1 Red cells morphological

es are proportional to degree o anaemia

)i(let count is often oderately raised ularlB in cases o localiFed bleeding site ,reactie bocBtosis

)(es of #or infestation there can $e %osinophilia

hemical %indings)i(iron is decreased

)ii($otal Iron )inding &apacitB ,$I)&. is increased)iii(%errritin is decreased

)i(transerrin saturation is decreased

Marrow %indings )i(roid +Bperplasia5 ErBthroblasts are small ,micronormoblasts. and

ragged cBtoplamic outlines

)ii(tain: Iron will be absent in stores as well as in erBthroid series


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Red )lood &ells MorphologB: MicrocBtic and +Bpo chromic redcell morphologB with pencil shaped poiGilocBttes.

Red cells morphological changes are proportional to degree oanaemia.

Pencil Shape Red cell

( ' & '


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MEA#()#A'$I& ANAEMIA'$his is a group o anaemias due to

impaired DNA sBnthesis theerBthroblasts in the bone marrow showa characteristic abnormalitB 3maturation o nucleus being delaBedrelatie to that o cBtoplasm, megaloblast.

In megaloblast the nuclear chromatinmaintains an open stippled lacBappearance despite normalhaemoglobin ormation in thecBtoplasm o the erBthroblasts as theBmature

$wo main defciencies lead tomegaloblasstic anaemia


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7I$AMIN ) /< AND %(#A$E ; &(M6ARI'(N

7I$AMIN ) /< %(#A$E

&(N$EN$' IN%((D 7egetables 36oor

Meat 3 Rich

7egetables 3 RichMeat 3 Moderate

E%%E&$ (%&((IN

/ ;0 8 loss = 3 @ 8 loss

'I$E (%A)'(R6$I(N

Ileum Duodenum eHunum

NE"R(#I&A#MANI%E'$A$I(N'

An Importanteature

Absent

MA#N"$RI$I(N "nusual Most commoncause o %olatedefciencB

(N'E$ Rapid (nset,$aGes weeGs.

'low ,$aGesBears.


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6A$+(ENE'I' (% +(O )/< AND %(#A$EDE%I&IEN&C 6R(D"&E MEA#()#A'$I& ANAEMIA

G o 7itamin )/< or %olate causes slowing o DNA sBnthesis in deelopithroblasts with an accumulation o cells in premitotic phase o cell cBc neutropeina and thrombocBtopenia also appears to result rom ineJe abnormal precursor cells in the marrow due to impaired DNA sBnthe


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&A"'E' (% 7I$AMIN )/< DE%I&IEN&C

/1Decreased intaGe o 7itamin )/


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&A"'E' (% %(#A$E DE%I&IEN&C

/1 Decreased intaGe o %olic Acid:Nutritional DefciencB


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INI&A# %EA$"RE' (% MEA#()#A'$I& ANAEMIA

lossitis: tongue is bee

red and painul

Angular stomatitis

$he onset is usuallBinsidious with graduallB

progressie sBmptoms andsigns o anaemia1 $he patientmaB be mildlB Haundiced,lemon Bellow tint. due to theexcess breaGdown ohaemoglobin resulting romineJectie erBthropoiesis inthe bone marrow

lossitis sore tongue and

stomatiitis Mild sBmptoms o

malabsorption with loss oweight maB be present due to

epithelial changes #ethar breathlessness and


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7itamin )/< DefciencB:

/;7I$MAIN ) /< NE"R(6A$+C :

)/< defciencB maB cause a progressieneurtopathB aJecting the peripheral sensorB neres$heneuropathB is sBmmetrical and aJects the lowerlimbs more than the upper limbs1 $he patientnotices tingling in the eet diPcultB in walGing andmaB all oer in the darG1 RarelB optic atrophB orpsBchiatric sBmptoms ,Megaloblastic Madness. arepresent

&'N"ERA# $")E DE%E&$'upplementation o maternal diet with olic acidduring6regnancB reduces the incidence o neural tube

deect '&ARDI(7A'&"#AR DAMAE:

#ab Diagnosis o Megloblastic


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#ab Diagnosis o MegloblasticAnemia/16eripheral blood fnidngs


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&..)one Marrow %indings in Megaloblastic Anaemia a1 ERC$+R(6(IE'I' : ; Megaloblasts All the nucleated series o erBthroid cellsshow

megaloblastic change ; $heir abnormal appearance is due to disturbance o cellgrowth and maturation resulting rom intererence with DNAsBnthesis1 ; &ells are larger than erBthroblasts

; Dissociation o &Btoplasmic and Nulcear maturation:Maturation o nucleus lags behind that o cBtoplasm 1+aemoglobiniFation o cBtoplasm taGes place while nucelus is immature

; DBserBthropoiesis : Increase in the proportion o moreprimitie cells b1 #E"&(6(IE'I' ; 'hit to right is obsered ; iant MetamBelocBtes are seen

c1 MEAARC(6(IE'I'; Me aGar oc tes are normalor decreased


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01 'pecial $ests:

/1 'erum 7itamin )/


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Macrocytic Anemia (Meg.):


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Megaloblastic Anemia:

+Bpersegmented Neutrophils

Oal macrocyte


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!etic"locyte co"nt

More than


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%/

Anemia of chronic disease (Anemia

of chronic disorders (ACD)


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Denition of anemia of chronic

disorders

$he anaemia of chronic disease (ACD) is acommon normochromic or mildlyhypochromic anaemia that occ"rs in

patients 0ith a systemic disease . 't ischaracteri1ed by a red"ced ser"m ironand iron$binding capacity2 and normal orraised ser"m ferritin 0ith ade3"ate iron

stores .'t is not d"e to marro0replacement by t"mo"r2 bleeding2haemolysis or haematinic deciency2

altho"gh these often complicate it.

Conditions associated 0ith anaemia of chronic


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Conditions associated 0ith anaemia of chronic

disorders.

/;&hronic infections:

4specially osteomyelitis2 bacterial endocarditis2t"berc"losis2abscesses2 bronchiectasis2 chronic"rinary tract infections2osteomyelitis2 H'5


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*%

Anemia of chronic disease (ACD) $ pathogenesis (#.

I; Inhibition o erBthropoiesis

• +hortened red cell life span2 moderately %8$*89

(from #%8 to :8$/8 days)

•

!elatie bone marro0(erythropoiesis) fail"re$ Cyto;ines released from in7ammatory cells(N$α2

'


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*,

Anemia of chronic disease (ACD) $Diagnosis

• +ymptoms of the "nderlying disease

• +ymptoms of the anemia

• he anemia is "s"ally mild or moderate ( Hb >$##g?dl)

$ lo0er al"es are obsered in %8$*89 of patients

• he anemia is most often normochromic andnormocytic (MCHC and MC5 are normal) ormicrocytic.

. 4rythrocyte sedimentation rate (4+!) $ "s"allyraised

• !etic"locytes $ most often normal


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*@

Anemia o chronic disease

,A&D. ;laboratorB eatures,


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Adantage o anemia in chronicdisorders

-ithdra0al of iron by increased storage ofthe metal 0ithin the retic"loendothelialsystem acts to limit the aailability of iron tomicroorganisms or t"mor cells and therebyinhibit their gro0th and proliferation

$ Decreased hemoglobin red"ces theoygen transport capacity of the blood and

decreases the oerall oygen s"pply2 0hichmay primarily a=ect rapid proliferating(malignant) tiss"es and micro$organism


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+AEM(#C$I&

ANAEMIA'

+AEM(#C$I& ANAEMIA'


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+AEM(#C$I& ANAEMIA'

$he distinguishing eature o all haemolBtic anaemias is

the increased rate o red cells destruction

N(RMA# RED &E## DE'$R"&$I(NRed cells destruction usuallB occurs ater a mean liespano /


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red cell breaGdown; Extraascular: $his taGes place extraascullar acrophages o the reticuloendothelial sBstem

cualar +aemolBsis: (ccurs in some pathological disorders


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IN$R(D"&$I(N $( +AEM(#C$I& ANAEMIA'


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IN$R(D"&$I(N $( +AEM(#C$I& ANAEMIA'

+aemolBtic anaemias are defned as those

anaemias which result rom an increase in therate o red cell destruction1 )ecause oerBthropoietic hBperplasia and anatomicalextension o bone marrow red cells

destruction maB be increased seeral; oldbeore the patient becomes anaemic-compensated haemolBtic disease1 $he normaladult marrow ater ull expansion is able toproduce red cells at six to eight timesproided this is LeJectie1 $hereorehaemolBtic anaemia is not seen unless the redcells lie span is less than 0 daBs.


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A''I%I&A$I(N (% +AEM(#C$I& ANAEMIA'

+ereditarB +aemolBtic Anaemias are the

result o Lintrinsic red cell deects

whereasAcKuired haemolBtic anameias are usuallBthe result o anextracarpuscular deect or

enironmental change1 6aroxBsmal Nocturnal+aemoglobinuria ,6N+. is an exceptionbecause it is an acKuired disorder but the6N+ cells hae an intrinsic deect

#A)(RA$(RC %INDIN' IN +AEM(#C$I&


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ANAEMIA'

$he laboratorB fndings in haemolBtic

anaemia are conenientlB diided in threegroups/1 %eatures o Increased +aemoglobin)reaGdown

i1 aundice and +Bperbilirubenemiaii1 Reduced plasma +aptoglobin and

+aemopixiniii1 Increased serum #D+i1 +aemoglobinemia1 +aemoglobinuriai1 Methhemoglobinemiaii1 +aemosidrinuria

Eidence o

Intraascular +aemolBsis


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+AEM(#()IN DI'(RDER'(R+AEM(#()IN(6A$+IE'

oglobin disorders result rom:

uced sBnthesis o normal Alpha or )eta globin chain

Alpha $halassaemias)eta $halassaemias

thesis o an Abnormal +aemoglobin

rBstaline +aemoglobin ,+b' & D E ( etc. ,$hese are produced due to amino acid substitutionstable +aemoglobin

$+A#A''AEMIA


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$+A#A''AEMIA“$he $halassaemias are a heterogeneous group o geneticdisorders o haemoglobin sBnthesis all o which result

rom reduced rate o production or absence o productiono one o the globin chains o haemoglobin!

According to globin chain which isproduced in reduced amount thalassaemias are diided into two important groups:

,i. )eta , S. $halassaemias: Due to reduced sBnthesis or absence o sBnthesis o )eta globin chains1

,ii. Alpha , T . $halassaemias: Due to reducedsBnthesis or

absence o sBnthesis o alpha globin chains1

; In )eta thalassaemia the beta chain sBnthesis isdecreased or absent but there will be unimpairedsBnthesis o Alpha chains;In some thalassaemias no globin chain is sBnthesiFed atall and hence are called UU or U11 thalassaemias

whereas in others some amount o globin chain isroduced but at a reduced rate these are desi nated as

INI&A# AND ENE$I& A''I%I&A$I(N


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INI&A# AND ENE$I& A''I%I&A$I(N(% $+A#A''AEMIA'

I1 )E$A ,S. $+A#A''AEMIA': ,Deects in transcriptionprocessing or translation o beta; globin mRNA

/1 )eta $halassaemia MaHor:.;+omoFBgous state;'eere anaemia5 reKuires regular blood transusions


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II1A#6+A $+A#A''AEMIA': Deect is mainlBdeletion o genes

,i. Alpha $halassaemia 'ilent &arrier, ; -

.AsBmptomatic5 no red cells abnormalitB

,ii. Alpha $halassaemia trait , ; -; . or ,;;- .

AsBmptomatic liGe beta thalasseamia trait

,iii. +b+ Disease ;;-; 'eere resembles beta thalassaemia intermedia

,i.+Bdrops %etalis ,; ; - ; ;.#ethal in utero


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In )eta $halassaemia MaHor there is a totallacG or a reduction in the sBnthesis ostructurallB normal beta; globin chains with

unimpaired sBnthesis o Alpha chains.

INI&A# %EA$"RE' (% )E$A


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INI&A# %EA$"RE' (% )E$A$+A#A''AEMIA MA(R

/1'eere anaemia with ailure to thrie on 0;4

months o age ater birth


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$he acial appearance o a child with betathalassae'

mia maHor: 'Gull is bossed with prominent rontal

and parietal bones5 the maxilla is enlarged

$he sGull ?; raB in )eta $halassaemiaMaHor: $here is a Lhair 3on;end

appearance as a result o expansion

o the bone marrow into cortical bone


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ient reKuires regular bloodns to sustain an acceptablebin leel1 )ut iron oerload

repeated transusions is ineit;ss chelation therapB ,remoal o en1 Each 2 ml o transusedtains about


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#A)(RA$R(C DIAN('I' (% )E$A$+A#A''AEMIA MA(R

ripheral blood flm will show seere microcBtic and

ochromic blood picture with marGed poGilocBtosisgmented red cells5 target cells.

eticulocBtes count is increased1

eripheral blood shows normoblasts

)eta $halassaemia MaHor


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MicrocBtic and hBpochromic blood

pictureMarGed anisocBtosis&

6oiGilocBtosisNucleated R)&

%ragmented red ells

#A)(RA$R(C DIAN('I' (% )E$A $+A#A''AEMIA MA(R


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91 +aemoglobin electrophoresis shows accentuatedband o +b%,%etal +aemoglobin.

21 %etal +aemoglibin estimation bB alGalidenaturation method will show eleated +b%

=1 DNA AnalBsis bB 6olBmerase &hain Reaction ,6&R.to looG or molecular lesion ,mutation or deletion.

41 6renatal Diagnosis: During pregnancB etus canbe diagnosed bB taGing &horionic 7illus'ample,&7'. o etus and then to do 6&R to fndout that whether etus is normal or he is haingmutations which can lead to beta thalassaemia

maHor or minor1

#A)(RA$R(C DIAN('I' (% )E$A $+A#A''AEMIA MA(RU11contd


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Normal +aemoglobin Electrophoretic 6attern


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$halassaemics receiing blood transusion at a thalassaemia center

)E$A $+A#A''AEMIA MIN(R ,$RAI$.


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)E$A $+A#A''AEMIA MIN(R ,$RAI$.

It is a heteroFBgous state1 $he person is carrBingabnormal genes rom one parent and normal rom

other1It is a common usuallB sBmptom less abnormalitBcharacteriFed bB a hBpchromicmicrocBtic blood picture,M&7 and M&+ erB low. with manB target cells andminimal anisocBtosis1 $he red cell count,R)& count. is high ,More than 2 ?//


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ood flm in )eta $halasaemia

aHor: MicrocBtic and +Bpochromic th ragmented red cells target

lls and nucleated red cells,normoblasts.

lood %ilm in Iron DefciencBnaemia: MicrocBtic and hBpochromic bloodicture with pencil; shape cells

lood flm in )eta $halasseamiaMinor ,$rait.: MicrocBtic and Bpochromic blood picture with manB

arget cells and absence o anisocBtosis


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Iron DefciencB 7s )eta $halassaemia$rait

anemias (1)by dr.hydi 3rd mbbs-2016.pptx

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