HOPE
DIRECTORATE
Provision of an Adult
Haemoglobinopathy Programme
Submission to Health Committee of Oireachtas
April 10th 2014
Dr. Eibhlin Conneally
Consultant Haematologist
St James’s Hospital
Dublin
The purpose of this paper is to outline the essential components of an adult haemoglobinopathy programme, set
out the resources required to deliver a clinical service for patients with haemoglobinopathies and propose a
model of care for a national specialised centre for haemoglobinopathies.
Over the last 10 years a large paediatric haemoglobinopathy service has been developed at Our Lady’s Hospital
for sick children (OLHSC) under the direction of Dr Corrina M Mahon. Currently 406 children attend this service.
Given the large paediatric cohort with SCD/Thalassemia there is an urgent need to develop an adult clinical
service in the context of a national specialist centre for haemoglobinopathies.
The proposal is that St James's Hospital will develop a national specialist centre for the management of adult
patients with Haemoglobinopathies. St James’s Hospital is the logical location for such a centre particularly given
the recent decision to locate the new National Children’s Hospital at the St James’s Hospital campus thus
facilitating the transition of the patients from a paediatric to an adult service. It is envisaged that the service
would operate as hub and spoke model similar to that developed by the National Centre for Hereditary
Coagulation disorders at St James’s Hospital for the management of patients with haemophilia.
The development of a national specialist centre would include an appropriately accredited laboratory for
haemoglobinopathy diagnosis. The haemoglobinopathy laboratory service has been established and developed
over the last 15 years by the haematology department in St James’s Hospital.
1.
Introduction to Haemoglobinopathies
Sickle Cell Disease (SCD) predominantly affects black and Afro-Caribbean people, whilst thalassaemia affects
Asian and Mediterranean peoples. However, due to population migration, SCD and less so thalassaemia are an
important part of clinical practice in most countries.
SCD and thalassaemia are complex disorders, and although are often grouped together and managed by the
same specialist team, their clinical manifestation and treatments are different. In countries with significant
populations of patients with haemoglobinopathies, affected children are identified by neonatal screening
programme. Currently in Ireland there is no national neonatal screening programme, however many hospitals
screen neonates from high-prevalence ethnic groups and infants identified are followed up in OLHSC.
Sickle Cell Disease
SCD is an inherited disease caused by the ‘sickle’ mutation, the resulting exchange of valine for glutamine leads
to the production of a sickle Haemoglobin molecule. Individuals who inherit the sickle gene from both parents
have homozygous SCD (HbSS), commonly called sickle cell anaemia. Individuals who inherit only one sickle
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gene from one parent are sickle carriers (HbS), previously known as sickle cell trait. Sickle cell carriers often do
not know they are carrying the HbS gene. Individuals can also co-inherit the HbS gene with another abnormal
haemoglobin gene causing the compound heterozygous conditions HbSC and HbSBthalassaemia, which tend to
have a slightly milder phenotype than HbSS.
SCD is a complex condition characterised by bouts of severe and occasionally life-threatening acute illness
(crises), increased susceptibility to specific severe infections, chronic fatigue, delayed growth and progressive
tissue and organ damage. SCD patients are intermittently unwell, and severely affected patient’s miss large
amounts of school and find it difficult to sustain employment.
Management includes prophylaxis against
infection, treatment of pain, expert management of acute life-threatening complications and chronic disease and
education and psychosocial support for patients and their carers. About 10-20% of children and a smaller
amount of adults require regular blood transfusions, together with iron chelation therapy.
SCD has a significant impact on morbidity and mortality.
It is unpredictable with random crises of variable
severity. This can add to psychological pressures of living with a chronic disease and may also cause social
disruption throughout life.
In terms of survival, in the 1970’s a person living with SCD was not expected to survive to adulthood.
Subsequent improvements in medical care and new treatment options have contributed to improved life
expectancy. Whilst over 95% of individuals now survive to adulthood (18 years), there is still high early adult
mortality with median survival to the mid-forties. There is evidence of an increased mortality in the years
immediately after transition from paediatric services especially where there is no dedicated adult service. A
national confidential enquiry into patient deaths in England reported that the most common causes of death in
adults with SCD were cerebrovascular accidents (stroke), multi-organ failure and acute chest syndrome.
Thalassaemia
Thalassaemia causes severe anaemia, bone expansion and failure to thrive in infancy and these patients require
regular blood transfusions, usually every 3-4 weeks for life, Iron accumulates as a result of regular blood
transfusions and if not removed (chelated) will cause damage to endocrine glands, liver and heart, with death
from heart complications in the second and third decade. Good organisation and monitoring of transfusions,
together with safe and effect iron chelation therapy are the medical goals of a thalassaemia service combined
with psychological support for patients and carers to minimise disabilities and optimise quality of life.
As children with SCD and thalassaemia grow through adolescence into adulthood, transition of care from
paediatrics to adult services will take place. This is a sensitive time, which needs careful planning and support.
Services for adults with haemoglobinopathies need to take account of the chronic nature of the condition and its
effects on further education, work and family life, as well as the variable and unpredictable need for acute
hospital care.
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2.
Current Activity and Service Provision at OLHSC
The National Paediatric Haemoglobinopathy Programme in predominantly provided by OLHSC under the
leadership of Dr Corrina McMahon. This service has grown rapidly since 2000 as a result of the inward migration
of people mainly from Africa. In 2000 there were 12 children with SCD in Ireland. In 2003 Adelaide Meath and
National Children’s Hospital (AMNCH) and OLHSC amalgamated and consolidated services for these children at
OLHSC and by 2004, 200 children with SCD were attending the service. Currently (2014) there are 392 patients
with SCD and 10 patients with thalassaemia who attend the service. In addition there are 38 patients with
SCD/Thalassemia attending St James’s Hospital without the necessary resources in situ. The adult
haemoglobinopathy cohort, are patients who have presented as adults de novo to the service or who have
already transitioned to SJH due to their clinical need. At present there are 28 patients in the paediatric
Haemoglobinopathy service older than age 16 who continue attend OLHSC waiting to transition to an adult
programme and 22 children aged between 15 to 16 who should transfer to an adult service over the next 12
months.
Demographics
As stated above there are currently 392 patients attending the service regularly at OLHSC, with the age profile
ranging from <1 year to 21 years and 10 patients with thalassaemia. Approximately 90% of patients live in and
around the Dublin region, with the remaining 10% from the Midlands, Limerick, Galway and Donegal.
Resources in OLHSC (Pay and Non Pay)
The following resources are in place in OLHSC for this cohort of patients:
PAY
Clinical Nurse Specialist x 1
Advanced Nurse Practitioner x 1
Psychologist x 1
Social Worker x 1
Medical Secretary x 1
Pharmacy Support
EEG Technician Support
Apheresis Nurse Support
3.
NON PAY
Dedicated beds
Proposed Interim and Long term Specialised Clinical Service Configuration
In countries where there is a wide variation in the prevalence of haemoglobinopathies, ‘hub and spoke’ clinical
care models have been effectively developed. Provision of a full range of specialist services for adults with
haemoglobinopathies in areas of low prevalence is unrealistic and not cost effective. Given the low prevalence of
haemoglobinopathies in Ireland, it is proposed that one national specialist care centre for the treatment and
management of adult haemoglobinopathies is developed. However, if a patient requires emergency treatment /
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acute management at a local secondary care hospital this can be provided with supervision and support from the
specialist care centre.
Irrespective of where the service is provided, the specialist centre will need to provide the core services for
treating patients with haemoglobinopathies and, additionally will have facilities to treat more acutely ill and
complex patients and those with advanced complications or co-morbidities. The specialist centre will:

have a designated haematologist with an interest in haemoglobinopathies

have a multidisciplinary team including medical, nursing, psychology and social work

hold a designated haemoglobinopathy clinic with the provision of comprehensive annual clinical reviews

provide a 24 hour access for emergency assessment and admission as necessary, under the care of a
designated specialist team

take over the care of patients with complicated episodes from other hospitals

provide high dependency and intensive care facilities for haemoglobinopathy patients

have an appropriately accredited laboratory for haemoglobinopathies diagnoses

have inpatient beds supported by the full range of services

have a day unit specifically for patients with haemoglobinopathies to provide transfusions and iron
chelation therapy

have access to stroke risk screening / transcranial doppler

have stroke care including initial emergency management and specialist diagnostics

have access to orthopaedic surgery, nephrology, urological services, respiratory services and hepatology
services

have access to screening services for pulmonary hypertension, ophthalmology and retinopathy

have facilities for automated red cell exchange

have access to full range of diagnostic imaging services including brain MRI / MRA and T2* and R2 MRI
for non-invasive iron measurement.
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Required Resources
The following resources are required to deliver an interim service for patients with haemoglobinopathies at SJH.
PAY
Clinical Nurse Specialist x 1.5 WTE
Staff Nurse (Daycare unit) x 0.5 WTE
Psychologist x 0.5 WTE
Senior Social Worker x 0.5 WTE
Medical secretary x 0.5 WTE
Haematology consultant x1 WTE
Haematology Registrar
Physiotherapy and Occupational therapy
NON PAY
Blood
*Drugs
**Consumables
Dedicated Beds
Progression of the development of the service is limited by resources and the employment ceiling that prevents
further hiring within the Health sector. Estimation of the resources required/patient is hampered by the lack of a
commissioning service within the health system. There is also a shortage of highly skilled medical staff at the
consultant level within the field of haematology.
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