7/23/2019 Scd Summary and Sba n Emqs http://slidepdf.com/reader/full/scd-summary-and-sba-n-emqs 1/22 SICKLE CELL DISEASE [Green–top Guideline No. 61 July 2011/ tog april 2013] Introduction: SCD is a group of inerited single!gene autoso"al re#essi$e disorders #aused %y te &si#'le( gene) *i# a+e#ts ae"oglo%in stru#ture) in#ludes si#'le #ell anae"ia ,-%SS and te eteroygous #onditions of ae"oglo%in S and oter #lini#ally a%nor"al ae"oglo%ins i!e ae"oglo%in C ,gi$ing -%SC) %eta talassae"ia ,gi$ing -%S talassae"ia and ae"oglo%in D) or !ra%. ll of tese genotypes *ill gi$e a si"ilar #lini#al penotype of $arying se$erity. EPIDEMIOLOGY ) SCD as its origins in su%!Saaran fri#a and te 4iddle ast) en#e it is "ost pre$alent in indi$iduals of fri#an des#ent as *ell as in te Cari%%ean) 4iddle ast) parts of 5ndia and te 4editerranean) and Sout and Central "eri#a. *ing to population "igration) SCD is no* of in#reasing i"portan#e *orld*ide and tere are in#reasing nu"%ers of a+e#ted indi$iduals in urope and te S. SCD is te "ost #o""on inerited #ondition *orld*ide) %out 300 000 #ildren *it SCD are %orn ea# year) t*o!tirds of tese %irts are in fri#a. 5n te 7) it is esti"ated tat tere are 12 000–18 000 a+e#ted indi$iduals and o$er 300 infants %orn *it SCD in te 7 ea# year *o are diagnosed as part of te neonatal s#reening progra""e. 9ere are appro:i"ately 100–200 pregnan#ies in *o"en *it SCD per year in te 7. PATHOPHYSIOLOGY SCD is a #onse;uen#e of poly"erisation of te a%nor"al ae"oglo%in in lo*!o:ygen #onditions) *i# leads to te for"ation of rigid and fragile si#'le!saped red #ells. 9ese #ells are prone to in#reased %rea'do*n) *i# #auses te ae"olyti# anae"ia) and to $aso!o##lusion in te s"all %lood $essels) *i# #auses a#ute painful #rises. ter #o"pli#ations of SCD in#lude stro'e) pul"onary ypertension) renal dysfun#tion) retinal disease) leg ul#ers) #olelitiasis and a$as#ular ne#rosis ,*i# #o""only a+e#t te fe"oral ead and "ay ne#essitate ip repla#e"ent. SCD *as pre$iously asso#iated *it a ig early "ortality rate) %ut no* te "a<ority of #ildren %orn *it SCD in te 7 li$e to reprodu#ti$e age and a$erage life e:pe#tan#y is at least te "id!80s. PREPREGNANCY CARE SCD is a #roni#) lifelong #ondition and tere are re#o""endations for #lini#al #are *i# apply to all patients) in#luding *o"en planning to %e#o"e pregnant.
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,-%SS and te eteroygous #onditions of ae"oglo%in S and oter #lini#ally
a%nor"al ae"oglo%ins i!e ae"oglo%in C ,gi$ing -%SC) %eta talassae"ia ,gi$ing
-%S talassae"ia and ae"oglo%in D) or !ra%. ll of tese genotypes *ill
gi$e a si"ilar #lini#al penotype of $arying se$erity.
EPIDEMIOLOGY ) SCD as its origins in su%!Saaran fri#a and te 4iddle ast)
en#e it is "ost pre$alent in indi$iduals of fri#an des#ent as *ell as in te
Cari%%ean) 4iddle ast) parts of 5ndia and te 4editerranean) and Sout and Central"eri#a.
*ing to population "igration) SCD is no* of in#reasing i"portan#e *orld*ide and
tere are in#reasing nu"%ers of a+e#ted indi$iduals in urope and te S.
SCD is te "ost #o""on inerited #ondition *orld*ide) %out 300 000 #ildren
*it SCD are %orn ea# year) t*o!tirds of tese %irts are in fri#a.
5n te 7) it is esti"ated tat tere are 12 000–18 000 a+e#ted indi$iduals and o$er
300 infants %orn *it SCD in te 7 ea# year *o are diagnosed as part of te
neonatal s#reening progra""e. 9ere are appro:i"ately 100–200 pregnan#ies in
*o"en *it SCD per year in te 7.
PATHOPHYSIOLOGY SCD is a #onse;uen#e of poly"erisation of te a%nor"al
ae"oglo%in in lo*!o:ygen #onditions) *i# leads to te for"ation of rigid and
fragile si#'le!saped red #ells. 9ese #ells are prone to in#reased %rea'do*n) *i#
#auses te ae"olyti# anae"ia) and to $aso!o##lusion in te s"all %lood $essels)
*i# #auses a#ute painful #rises. ter #o"pli#ations of SCD in#lude stro'e)
pul"onary ypertension) renal dysfun#tion) retinal disease) leg ul#ers) #olelitiasis
and a$as#ular ne#rosis ,*i# #o""only a+e#t te fe"oral ead and "ay
ne#essitate ip repla#e"ent.
SCD *as pre$iously asso#iated *it a ig early "ortality rate) %ut no* te "a<orityof #ildren %orn *it SCD in te 7 li$e to reprodu#ti$e age and a$erage life
e:pe#tan#y is at least te "id!80s.
PREPREGNANCY CARE SCD is a #roni#) lifelong #ondition and tere are
re#o""endations for #lini#al #are *i# apply to all patients) in#luding *o"en
=o"en sould %e re$ie*ed at least annually %y a spe#ialist si#'le ser$i#e for te
"onitoring and an up!to!date assess"ent of #roni# disease #o"pli#ations and te
i"parting of infor"ation parti#ularly rele$ant for *o"en planning to #on#ei$e
in#ludes>
? te role of deydration) #old) ypo:ia) o$ere:ertion and stress in te fre;uen#y of si#'le #ell #rises ? o* nausea and $o"iting in pregnan#y #an result in deydration
and te pre#ipitation of #rises ? te ris' of *orsening anae"ia) te in#reased ris' of
#rises and a#ute #est syndro"e ,CS and te ris' of in#reased infe#tion
,espe#ially urinary tra#t infe#tion during pregnan#y ? te in#reased ris' of a$ing a
gro*t!restri#ted %a%y) *i# in#reases te li'eliood of fetal distress) indu#tion of
la%our and #aesarean se#tion. ? te #an#e of teir %a%y %eing a+e#ted %y SCD.
9e assessent !or c"ronic disease co#$ications sould in#lude> ?S#reening
for pul"onary ypertension *it e#o#ardiograpy. tri#uspid regurgitant <et
$elo#ity of "ore tan 2.8 "/se#ond is asso#iated *it a ig ris' of pul"onary
ypertension.S#reening sould %e perfor"ed if tis as not %een #arried out in telast year.
? lood pressure and urinalysis sould %e perfor"ed to identify *o"en *it
and appropriate peni#illin propyla:is) gi$en in te #onte:t of eiter pre$ious
splene#to"y or fun#tional loss resulting fro" pre$ious spleni# infar#tions. ny oter"edi#ation sould %e re$ie*ed in te #onte:t of possi%le teratogeni#ity) and
stopped or #anged to alternati$es) as appropriate. -ydro:y#ar%a"ide
,ydro:yurea sould %e stopped at least 3 "onts %efore #on#eption. ngiotensin!
#on$erting eny"e ini%itors and angiotensin re#eptor %lo#'ers sould %e stopped
Genetic counse$$in% sould %e pro$ided as part of te 7 national antenatal
ae"oglo%inopaty s#reening progra""e) *i# *as introdu#ed in 2001. 5deally)
te *o"an(s #arrier status and tat of er partner *ould a$e %een identied as
part of general prepregnan#y ealt ad$i#e prior to planning pregnan#y. ailing tat)
se sould a$e ae"oglo%inopaty s#reening at te ti"e of %oo'ing for antenatal
#are) unless se li$es in a &lo* pre$alen#e( area ,*it fe*er tan 1.8 per 10 000pregnan#ies *it si#'le #ell disease fetuses/ %a%ies per year) in *i# #ase initial
s#reening is underta'en %y as#ertaining er etni#ity) %y a standardised fa"ily
are all possi%le) *it teir attendant possi%le #o"pli#ations) and te possi%ility of sele#ti$e ter"ination of te pregnan#y if te fetus is found to %e a+e#ted , tog
2013.
5n addition) tey sould re#ei$e #ounselling a%out te a$aila%ility of
prei"plantation geneti# diagnosis and referred for tis if appropriate. if teir
partner(s status is un'no*n) te fetus sould %e treated as ig ris' for a
ae"oglo%inopaty. Sper" donors sould also %e s#reened for
ae"oglo%inopaties for #ouples #onsidering in $itro fertilisation.
9a%le 1 > Conditions re;uiring #ounselling *en te "oter is a+e#ted %y SCD
CND595N-%S Carrier state
H talassae"ia
!ra%
-%C
D!Aun<a%
in partner *i# re;uires referral for
#ounselling and o+er of prenatal
diagnosis
D talassae"ia
Iepore -%
-ereditary persisten#e of fetal
e"oglo%in ,-A-
Carrier state in partner *i# re;uires
#ounselling and "ay need furter
in$estigation
PREGNANCY& ANTENATAL CARE: 9e le$el of #are and attention in pregnan#y
and te puerperiu" sould %e te sa"e for *o"en *it all types of si#'le #ell
Acute Pain!u$ crisis is te "ost fre;uent #o"pli#ation of SCD during pregnan#y)
*it %et*een 2O and 80O and it is te "ost fre;uent #ause of ospital ad"ission.
$oidan#e of pre#ipitants su# as a #old en$iron"ent) e:#essi$e e:er#ise)
deydration and stress is i"portant.4ild pain "ay %e "anaged in te #o""unity
*it rest) oral Muids and para#eta"ol or *ea' opioids. NS5Ds sould %e used only%et*een 12 and 2 *ee's of gestation. Ari"ary #are pysi#ians sould a$e a lo*
tresold for referring *o"en to se#ondary #areQ all *o"en *it pain *i# does
not settle *it si"ple analgesia) *o are fe%rile) a$e atypi#al pain or #est pain or
sy"pto"s of sortness of %reat sould %e referred to ospital.
=o"en *it SCD *o %e#o"e un*ell sould a$e si#'le #ell #risis e:#luded as a
"atter of urgen#y nd sould %e loo'ed after %y te "ultidis#iplinary tea")
in$ol$ing o%stetri#ians) "id*i$es) ae"atologists and anaestetists. 9e
re;uire"ent for Muids and o:ygen sould %e assessed) and Muids and o:ygen
ad"inistered if re;uired.
9ro"%opropyla:is sould %e gi$en to *o"en ad"itted to ospital *it a#ute
painful #risis. 5nitial analgesia sould %e gi$en *itin 30 "inutes of arri$ing at
ospital and e+e#ti$e analgesia sould %e a#ie$ed *itin 1 our.
para#eta"ol for "ild painQ NS5Ds #an %e used for "ild to "oderate pain %et*een
12 and 2 *ee's of gestation. =ea' opioids su# as #o!dydra"ol) #o!#oda"ol or
diydro#odeine #an %e used for "oderate pain) and stronger opiates su# as
"orpine #an %e used for se$ere pain.
ssess"ents of pain s#ore) sedation s#ore and o:ygen saturation sould %e
perfor"ed at least 2! ourly using a "odied o%stetri# early *arning #art.
o: 1. utline of "anage"ent of a#ute pain
@apid #lini#al assess"ent5f pain is se$ere and oral analgesia is not e+e#ti$e) gi$e strong opioids ,e.g.
"orpineGi$e ad<u$ant non!opioid analgesia> para#eta"ol) NS5D ,if 12–2 *ee's of
gestationAres#ri%e la:ati$es) antipruriti# and antie"eti# if re;uired4onitor pain) sedation) $ital signs) respiratory rate and o:ygen saturation e$ery 20–
30 "inutes until pain is #ontrolled and signs are sta%le) ten "onitor e$ery 2 ours,ourly if re#ei$ing parenteral opiatesGi$e a res#ue doses of analgesia if re;uired5f respiratory rate is less tan 10/"inute) o"it "aintenan#e analgesiaQ #onsider
nalo:oneConsider redu#ing analgesia after 2–3 days and repla#ing in<e#tions *it e;ui$alent
dose of oral analgesiaDis#arge te *o"an *en pain is #ontrolled and i"pro$ing *itout analgesia or on
lood sould %e #ross!"at#ed for deli$ery if tere are atypi#al anti%odies present
,sin#e tis "ay delay te a$aila%ility of %lood) oter*ise a &group and sa$e( *ill
suT#e. 5n *o"en *o a$e ip repla#e"ents ,%e#ause of a$as#ular ne#rosis it is
i"portant to dis#uss suita%le positions for deli$ery.
9e ris's of a%ruption) pre!e#la"psia) peripartu" #ardio"yopaty and a#ute si#'le#ell #risis are in#reased and unpredi#ta%le. 5t is te opinion of te de$elopers tat)
li'e "ost &ig!ris'( #onditions) deli$ery of te %a%y at 3–L0 *ee's of gestation *ill
pre$ent late pregnan#y #o"pli#ations and asso#iated ad$erse perinatal e$ents.
=o"en *it SCD sould %e ad$ised to gi$e %irt in ospitals tat are a%le to
"anage %ot te #o"pli#ations of SCD and ig!ris' pregnan#ies.
9e rele$ant "ultidis#iplinary tea" ,senior "id*ife in #arge) senior o%stetri#ian)
anaestetist and ae"atologist sould %e infor"ed as soon as la%our is #onr"ed.
=o"en sould %e 'ept *ar" and gi$en ade;uate Muid during la%our. Continuous
intrapartu" ele#troni# fetal eart rate "onitoring is re#o""ended o*ing to tein#reased ris' of fetal distress *i# "ay ne#essitate operati$e deli$ery.
rterial %lood gas analysis sould %e perfor"ed and o:ygen terapy instituted if
o:ygen saturation is KLO or less. ourly o%ser$ations of $ital signs sould %e
1 Co"pli#ations seen *it in#reased fre;uen#y during pregnan#y in *o"en *it
si#'le #ell trait in#lude all e:#ept>
. #est syndro"e.
. a#ute pyelonepritis
C. 4alaria
D. #ute stro'e
. #ute anae"ia
ns> #
2 9reat"ent of a patient *it an a#ute si#'ling #risis re;uiring ad"ission in ospital
ad"ission in pregnan#y sould usually in#lude e:#ept >
.lo* "ole#ular *eigt eparin in<e#tions.
. %lood transfusion.
C. intra"us#ular in<e#tion of petidine for analgesia.
D. nalgesia sould %e tailored to te needs of te indi$idual) and is li'ely to
in#lude te use of "orpine) *i# "ay %e "ore e+e#ti$ely ad"inistered troug a
patient!#ontrolled syste".
ns> C EAetidine is generally a$oided) %e#ause it is less e+e#ti$e) and its"eta%olites tend to a$e longer!lasting depressant e+e#ts) as *ell as a tenden#y to
5.5ntra$enous Muids) anti%ioti#s and tro"%opropyla:is
J.Iu"%ar epidural
7.4iddle #ere%ral artery Doppler
I.Steroids
4.9ro"%olysis
N.9ro"%opropyla:is
.9ransfusion *it red #ells
A."%ili#al artery Doppler
Z.9ransfusion *it *ole %lood
5nstru#tions> or ea# of te follo*ing #lini#al s#enarios) #oose te single "ost
appropriate inter$ention fro" te option list a%o$e. a# inter$ention "ay %e
sele#ted on#e) "ore tan on#e or not at all.
Z 2 23!year!old *o"an) 'no*n to a$e si#'le #ell anae"ia ,-%SS) presents in
er rst pregnan#y at 3L *ee's( gestation feeling generally un*ell. 9e fundal
eigt "easures 32 #". n e:a"ination se is found to a$e a "ild te"peratureand a %lood pressure of 1L0/68 ""-g. 9ere is nitrites [ and protein [ in er urine.
-er ae"oglo%in is . g/dI.
Z3 2!year!old *o"an) 'no*n to a$e si#'le #ell anae"ia ,-%SC) presents at 3L
*ee's *it nausea and $o"iting of 3 days( duration. n e:a"ination) er
te"perature is 36.KC) er pulse is 2 %p" and er %lood pressure is 110/68
""-g. 9e uterine fundus "easures 32 #") te lie of te fetus is longitudinal and