i mu no hematology

8/9/2019 i Mu No Hematology

1/20

CLS 3311Advanced Clinical

Immunohematology

Course Orientation and

GENETICS LECTUE


2/20

!ust a "ord a#out Trans$usion %edicine& a'a

(lood (an' and your role as a Clinical

La#oratory Scientist)


3/20

I "ould li'e to introduce you to my youngest

son& !aco# *aniel +undel)


4/20

, %y son "as -overt #reech. "hen he decided to

enter the "orld "hich means that the $irst acthe did in this li$e "as to ‘MOON’ #oth hismother and mysel$)

, /hen he $inally did enter the "orld he "as

not #reathing or sho"ing any signs o$ li$e)/ithin a00roimately 1 minute he screamed #ut "as having some signi$icant 0ro#lems)

, 2e had tachy0nea& 0ulmonary hy0ertension&etc) 2e s0ent the $irst ten days o$ his li$e in thehos0ital "ith ALL o$ the health care teaminvolved in 0reserving his li$e)


5/20

Clinical Laboratory Scientist

, As a CLS you "ill 0artici0ate in saving manylives every day you are on the o#)

, The net slide is a 0hoto that "as ta'en "hen!aco# re4uired a trans$usion o$ red #loodcells)

, A CLS 0er$ormed all the necessary testing on #oth my "i$e and my son to insure the sa$etyo$ the #lood that you see saving his li$e)


6/20

The red arro" indicates the red #lood cell trans$usion line)


7/20

As a result o$ the hard "or'

o$ Clinical Laboratory

Scientist’s, Nurses&

es0iratory Care&

adiology& and neonatal

5hysicians !aco# came

home ha00y and healthy)

I am sure that you or

someone you love has had

to s0end some time in the

hos0ital and has had

la#oratory "or' 0er$ormedon their #lood)

It is im0ortant that you remem#er

that every 0atient.s s0ecimen and

sam0le is $rom someone.s son or

daughter& mom or dad& #rother or

sister) It may even #e YOURS!!


8/20


9/20

Blood Bank Genetics

, Genetics is the study o inheritance!

7 nheritance o trans"issible characteristics or

‘traits’# such as #lood grou0 antigens $ound on

red #lood cells

, S0eci$ic regions o$ the chromosome 8GENES9

encode the in$ormation $or s0eci$ic traits)

, 2umans have :; chromosomes& "hich are

0resent in


10/20

, Traits are the o#served e0ressions o$ genes)

, Each gene codes $or the 0roduction o$ a s0eci$ic 0rotein #y coding $or a se4uence o$ amino acidsor 0oly0e0tides) 7 These 0roteins may $unction alone as a single

antigen or they may com#ine "ith other 0roteins&li0ids or 0olysaccharides to $orm more com0leantigens)

, The >1 8>ell9 gene codes $or the 0roduction o$the >1 antigen 0resent on the red #lood cell

mem#rane)


11/20

Gene Products

1) /hat are (CAntigens?


12/20

Gene Interactions

$% Alternate or" o a &ene

at a s'eciic locus is an

((((((((%

)% *hat is a Silent Allele+

% *hat is Co-.o"inant

/do"inant0 nheritance+

$% Allele# Alleles in the A1Oblood &rou' are A, 1 and O

)% A"or'h# no detectable &ene'roduct# O &ene has nodetectable 'roduct%

% Obser2able traits 3heninherited% nherit A and 1&enes 4 A and 1 anti&ens are'resent


13/20

Each individual has at least two

alleles: One on each chromosome.

1) /hat is 2omoygous?


14/20

Genotye vs. Phenotye

1) /hat is Genoty0e?


15/20


16/20

, %omB AO& *adB ((

, %omB AA& *adB (O

, %omB AO *adB (O

, %omBAA& *adB ((

A O

1

O

A( (O

AO OO

1

1

A A

A(

A(

A(

A(

A O

1

1

A(

A(

(O

(O

A A

1

O

A( A(

AO AO


17/20

!OS"GE

, In some #lood grou0 systems& 0ersonshomoygous $or an allele have MOR5 antigenon their red cells than 0ersons heteroygous

$or an allele) 7 Dariation in antigen e0ression due to the num#er

o$ alleles 0resent is called .OSAG5

, *osage e$$ect is not seen "ith all #lood grou0

antigens or even "ith all anti#odies o$ a givens0eci$icity) 7 (lood grou0s that demonstrate dosage includeB h&

*u$$y& %NSs& and >I**)


18/20

67 a

67 a

67 a

67 a67 a

67 a

67 b

67 b

67 b

67 b67 b

67 b

67 b

67 a 67 a

67 a67 a

67 a

67 a67 a

67 a

67 a

67 a

67 a

67 a

67 a

67 a67 a

!osa#e:$etero%y#ous e&ression

demonstrates "ea'er reaction"ith reagent antisera& such as

anti=!' a) e"er !' a antigens

0resent on (C mem#rane)

!osa#e:$omo%y#ous e&ression

demonstrates stronger

reaction "ith reagent

antisera& such as anti=!' a)

%ore !' a antigens 0resent

on (C mem#rane)


19/20

Gene re4uencies

, re4uency o$ a gene in a certain 0o0ulation)

or eam0le& "hat is the 0revalence o$ the

1r h ha0loty0e in the "hite 0o0ulation inAmerica?

7 /e do NOT directly measure the 0revalence o$

a gene in a certain 0o0ulation) (ut "e domeasure the $re4uency o$ the gene 0roduct = in

this case& #lood grou0 antigens)


20/20

Gene re4uencies

, Gene re4uencies can only #e etra0olated

$rom 0o0ulation studies using henotye're(uencies) 8A(O Ta#le F=3& 0age F9 7 Traits are the out"ard e0ression o$ genes)

7 rom 0henoty0e $re4uencies "e can 0redict the

most li'ely genoty0e o$ a 0erson)

, Some gene $re4uencies cannot #e

determined serologically = /hy?

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