SICKLE CELL DISEASE IN B & D DR I R GRANT 15 FEB 2012 250,000 - - PowerPoint PPT Presentation

SICKLE CELL DISEASE IN B & D

DR I R GRANT

15 FEB 2012

250,000 children born every year with SCD About 0.15% African Americans are

homozygous for SCD

8% have sickle cell trait 12,000 with SCD in UK. Most in London About 600+ patients with SCD in BHR

A structural globin chain variant HbSS, HbS-β0Thal, HbS-β+Thal, HbSC Median age at death is 42yrs for men and

48yrs for women.

Pulmonary complications commonest cause

• f death accounting for 28% of all deaths.

The codon determining the amino acid at

position β6 has changed from GAG coding for glutamic acid to GTG coding for valine.

HbS Structure HbS Structure

Vaso-occlusive Crisis Infection including aplastic crisis Splenic sequestration Acute chest syndrome Neurological complications: TIA, CVA and silent

infarcts

Delayed growth and puberty Enuresis (bedwetting) Priapism (painful erections) Death

Vaso-occlusion Splinting of ribs Hypoventilation due to pain and analgesia Plate atelectasis of lung Pulmonary infarction 20 to thrombosis Fat embolism Infection Presenting with chest pain, dyspnoea and falling

• xygen saturations

Acute splenic sequestration

Rapid enlargement of spleen, fall in haemoglobin Commonest in second six months of life Majority of episodes before 2 years of age Treated with top-up transfusion Recurrent in ~50%

Chronic splenomegaly

10% of patients with HbSS May cause hyposplenism leading to poor growth

Low, falling Hb with reticulocytopenia May be overt accompanying viral infection

Erythema infectiosum, arthropathies, abdominal pain

Parvovirus B19 (IgM usually positive) Treatment with blood transfusion support Warn siblings, pregnant women

Sickle cell disease commonest cause of

childhood stroke

Increased risk by 280x Presentation diverse - hemiplegia, limp,

reduced consciousness, fits

IQ reduction of 4 points Cognitive/learning difficulties Significant morbidity + mortality

Haemoglobinopathies – life-long

Significant morbidity and mortality On the increase- are current services adequate to

meet demands of patient load

Significant community/psychological,social and

Significant community/psychological,social and welfare support

Management

Prevention Surveillance Treatment of complications

Services in BHRUT

BACKGROUND

Increasing number of patients living with

haemoglobinopathy resident in Barking and

• Dagenham. This reflects demographic increases in

high prevalence population groups.

2009-10 acute trust register identified 400 children

and adults in B&D.

2012 Adults 353 B and D 156: Paed 292 B and D 170 (2008-09 PbR non-elective activity with primary

diagnosis ‘sickle cell admission’ was £255,000 for 210 admissions = £1214 per admission.)

Current gap in community service pathway for care of

haemoglobinopathies.

HOSPITAL SERVICE

BHRUT have 3 haematologists with special

interest in SCD

Paediatric and adult OP and IP service able to

deliver all aspects of care and treatment for deliver all aspects of care and treatment for patients affected with SCD

Good positive feedback on inpatient provision Universal Antenatal screening (introduced 2003)

performed and counselling given to all couples who could have a child with SCD

COMMUNITY SERVICE

What has been lacking is a community service

which will prevent admissions and improve holistic care to patients with Sickle Cell Disease

ONEL have committed to this from 1st April 2012 ONEL have committed to this from 1 April 2012 Provides seamless care between community

and hospital

Helps provide social, psychological, counselling

and medical care in the community and prevents hospital admissions

HAEMOGLOBINOPATHY SERVICES BHRUT

2003 DH review showed BHRUT to be

significantly under resourced compared to rest of London Recommendation of DH in 2003 we needed

Recommendation of DH in 2003 we needed

2 haemoglobinopathy counsellors

Concerns that BHRUT would not be able to

support the introduction of neonatal and prenatal screening for haemoglobinopathy

DH supplied monies to support 1

haemoglobinopathy nurse specialist plus admin support

This was on the basis of about 60

patients

Now have > 600 DH wrote letter of commendation to

haem dept in 2004 congratulating them

• n the professional way they had

introduced the screening programmes

We have the medical infrastructure but

community infrastructure still lacking.

Huge amounts of work done on medical side

with much appreciation from patients. Protocols, databases in place Peer review imminent which we will fail and

Peer review imminent which we will fail and

be seriously criticised based on the nurse, counsellor and pyschology support if we do not get a proper community service.

BHR HAEMOGLOBINOPATHY NUMBERS MAY 2012

Adult database - 353 B&D 156 Redbridge 55 Havering 62 Other Newham/ Waltham Forest 50

BHR HAEMOGLOBINOPATHY NUMBERS MAY 2012

Paediatric database - 292 B&D -170 Redbridge 59 Havering 36 Other Newham/ Waltham Forrest/ South

West/ East Essex -14

PREDICTED GROWTH RATES

3% for UK BHR - New baby numbers alone - 10%

increase 08 to 09 (plus paediatric and adult immigration) immigration)

NEW BIRTH RATES

B&D 1 in 297 babies born are affected by a

significant haemoglobinopathy

Redbridge - 1 in 1454 Havering - 1 in 7601 24 new babies seen at BHR in 2009 (B&D

16/ Redbridge 6/ Havering 2)

CARRIER RATES

B&D 1in 14 - the highest carrier rate of any

PCT in the country!!!!

Redbridge - 1 in 32 Havering - 1 in 50

HAEMOGLOBINOPATHY TEAM CURRENTLY

Dr Claire Hemmaway (Haemoglobinopathy lead)

2.25 clinics per week

Dr Grant (1 clinic a week) Christine Williams (0.3WTE) Anne Marie - clerical support 1WTE Jane Mattison (0.6 WTE) Pam Jones (2 days a week - welfare benefits

advice)

An enormous amount of goodwill from both

paediatric and adult cancer nurse specialists

NEWHAM SERVICE (COMMUNITY SERVICE)

• NOT A SPECIALIST CENTRE
• EQUIVALENT NUMBERS
• Own Community Building
• Service manager Band 8a
• Specialist nurse counsellor
• Community health visitor
• Adult Haemoglobinopathy nurse specialist (Band 7)
• Adult Haemoglobinopathy community nurse (Band 6)
• Paediatric Haemoglobinopathy nurse (Band 6)
• Psychologist (Band 7)
• Social worker (Band 7)
• Family liason officer
• 2 clerical staff

INDIVIDUALS LIVING WITH HAEMOGLOBINOPATHY

Individuals living with a haemoglobinopathy

require multi-disciplinary support in acute and maintenance periods.

They should have as a baseline an annual They should have as a baseline an annual

review and have regular blood tests, medication reviews, immunisation and psychological assessment and support.

At the point of diagnosis they, and their families,

may need additional support and counselling.

Key Documents

Sickle cell disease in childhood – standards and

guidelines for clinical care (Oct 2010)

Standards for the Clinical Care of Adults with

Sickle Cell Disease in the UK (2008)

National Service Framework for Children and

Young People. (2004)

Healthy Children Programme. A Sickle Crisis? (2008)

• Local network of care including community care, local hospital (LH) and

specialist centre (SHT) with links to paediatric intensive care.

• Annual review of all children by SHT with first appointment by 3months of age,

including screening, education and prevention review.

• Annual trans-cranial doppler scan (TCD) on all children from 2yrs old.
• Local voluntary sector support.
• Named paediatrician and/or paediatric haematologist at LH and SHT.
• Good communication with general practice and community nursing teams.
• Expert patient program.
• Coordination of community needs through community paediatric services.
• Local authority aware and supporting specific needs.
• Transition policy and specific transition review in place at 15-16yrs of age.
• Specific adolescent clinic for formal review and handover.

Rapid assessment at A&E with first dose of

analgesia with 30mins and pain control within

• 2hrs. Specialist support to manage

complications. complications.

Regular outpatient follow-up with screening. Education and training. Clinical leadership with clinical and nursing

experts and patient and public involvement.

REFERENCES

• Standards for the management of sickle cell disease in children. M C Dick. Arch Dis Child Educ Pract

Ed 2008 93: 169-176

• NHS. Sickle cell disease in childhood - standards and guidelines for clinical care. See

http://www.sickleandthal.org.uk/publications.

• NHS. UK Newborn Screening Programme Centre. UK standards. See http://www.newbornscreening-

bloodspot.org.uk

• Transcranial Doppler Scanning for Children with Sickle Cell Disease Standards and Guidance (March

2009)

• Standards for the Clinical Care of Children and Adults with Thalassaemia in the UK 2008
• Adams RJ, McKie VC, Hsu L, et al. Prevention of a first stroke by transfusions in children with sickle

cell anaemia and abnormal results on transcranial Doppler ultrasonography. N Engl J Med. 1998;339:5-11.

• Discontinuing Prophylactic Transfusions Used to Prevent Stroke in Sickle Cell Disease. The

Optimizing Primary Stroke Prevention in Sickle Cell Anemia (STOP 2) Trial Investigators. N Engl J Med 2005;353:2769-78.