| Home | Services | Haemoglobin | Guidelines | R & D | Social Issues | Support Group |
INTRODUCTION
To appreciate the problems associated with sickle cell and thalassaemia Community Health Care nurses need to have a basic understanding of the biological, genetic, epidemiological, aetiological, clinical, and psycho-social implications of these genetic conditions collectively known as the haemoglobinopathies.
THE NORMAL RED BLOOD CELL
Blood is made up of two basic parts
- Plasma, which is fluid
- Formed cells, of which there are
| Red blood cells ) | |
| White blood cells ) | these 3 form the blood group |
| Platelets ) |
| A normal RBC is a biconcave, flexible
disc, it is pliable, spongy and soft. It flows easily, even through
the tiniest blood vessel without damage to its own structure. It is
manufactured in the bone marrow, primarily the long bones during
childhood, and the flat bones during adulthood. RBCs live
approximately 120 days in circulation before they are destroyed by
the reticulo endothelial cells in the spleen. RBCs contain millions of haemoglobin molecules, these are responsible for performing the main function of the RBC, which is to attract oxygen in the lungs and transport it to the tissues of the body. |
 |
| Haemoglobin is made up of two parts, haem the iron compound
which binds with the oxygen, and globin which are proteins. The
globin is made up of a pair of alpha (a2)
and a pair of beta (b2) chains.
The alpha gene is located on chromosome 16 and the beta gene is
located on chromosome 11. The chromosome controlling the
a and b
genes are totally unrelated even though their end products unite to
form a haemoglobin molecule (11) 146 amino acids link together in a
predetermined sequence to form the alpha chains and 141 amino acids
link to form the beta chains. The body is constantly manufacturing new RBCs and destroying aged or destroyed RBCs. When RBC are destroyed the haem (iron) is stored in the liver for the manufacture of new red blood cells. Globin is converted into bile and stored in the gall bladder to aid in the digestion of food. Bile gives urine its yellow colour and faeces its brown colour. |
 |
INHERITANCE OF HAEMOGLOBIN
Haemoglobin genes are inherited, one from each parent. If an individual inherits two normal adult haemoglobins they have haemoglobin AA (Hb AA).
Those who inherit one normal and one abnormal haemoglobin are said to have a `trait', for example, sickle cell trait (Hb AS), beta thalassaemia trait (Hb AbThal), haemoglobin C trait (HbAC), haemoglobin D trait (HbAD).
Individuals with a trait carry the unusual haemoglobin but are perfectly healthy, they do not have an illness and under normal conditions do not experience any symptoms. They will not know that they carry this unusual haemoglobin unless they have been tested specifically for it.
INHERITANCE OF DISEASE STATES
Haemoglobinopathies are a range of genetic disorders of haemoglobin. They are inherited in a Mendelian recessive fashion, in other words an individual has to obtain an abnormal gene from both parents in order to have any form of disease. For example, sickle cell anaemia (Hb SS) and beta thalassaemia major (Hb bbThal), or compound disease states where the two abnormal haemoglobins are different, for example, sickle haemoglobin C disease (Hb SC) and sickle beta thalassaemia (Hb SbThal), haemoglobin E beta thalassaemia (Hb EbThal) (23).
An example of inheritance pattern
| PARENT 1 | PARENT 2 | ||
| AS | AS | ||
| AA | AS | AS | SS |
| CHILD ? | |||
If both parents have sickle cell trait, in each and every pregnancy, there is a one in four chance the child could inherit normal haemoglobin (Hb AA), a two in four chance the child could inherit sickle cell trait (Hb AS), like the parents, or a one in four chance the child could inherit sickle cell anaemia (Hb SS). This genetic inheritance pattern can be applied, irrespective of the type of haemoglobin the parents have.
| TIME OUT / SUGGESTED EXERCISE: Could you work out which haemoglobin the child could inherit if:
|
All new born babies have high levels of fetal haemoglobin at birth, approximately 75-90% of their total haemoglobin. By the age of one year the Hb F level reduces to <1% and remains at this level right through life. Hb F is a normal haemoglobin which all babies have during intrauterine life, this is irrespective of the type of adult haemoglobin the child has inherited from both parents (23).
If a newborn has inherited the genes for normal adult haemoglobin, at birth the blood test result would indicate the presence of haemoglobins A and F as well as A2 (A2 is an unimportant minor haemoglobin). However, if an individual has inherited, for example, sickle cell trait the blood test result would demonstrate the presence of haemoglobins A, S and F (Hb AFS) as well as A2.
POPULATION AFFECTED BY SICKLE CELL
There is a misconception that sickle cell affects only Black people. However, this is a myth, and having the condition is not dependent on skin colour but on ethnic origin. Sickle cell occurs most commonly among people whose ancestors originate from Africa, Asia, Middle and Far East and the Mediterranean. Migration accounts for its presence in the Caribbean, South America and other parts of the world, including Britain. All people of non Northern European origin are therefore considered to be `at risk'.
| For example approximately: | 1 in 4 West Africans 1 in 10 African-Caribbeans 1 in 20 - 50 Asians 1 in 100 Northern Greeks have Sickle Cell Trait |
| And: | 1 in 6 Ghanaians have Haemoglobin C trait |
Since the introduction of a comprehensive neonatal screening programme, in 1988 in North West Thames Health Region, several White English Caucasians have been identified with sickle cell trait and other haemoglobinopathies including haemoglobin C, D, J, E trait and other novel haemoglobins which are not reported in Black and other minority ethnic populations.
WHAT IS SICKLE CELL DISEASE ?
Sickle cell disease are a group of genetically inherited abnormalities affecting red blood cell structure and function. It is an autosomal (non sex linked), recessively inherited condition which occurs as a result of inheriting two abnormal haemoglobin genes (11).
The genetic mutation for sickle occurs on the 6th point of the beta globin chain, glutamic acid is replaced by another amino acid called valine. This amino acid substitution causes a change in the beta globin chain resulting in the production of sickle haemoglobin. A red blood cell which contains only sickle haemoglobin and no normal haemoglobin A is insoluble: under the right conditions the haemoglobin molecules crystallise when deoxygenated. These crystals are sticky and stack up to form long stiff rods which distort the membranes of the RBC. These rods exert pressure against the wall of the RBC causing it to change into the classic half moon shape associated with sickle red blood cells (23).
When these RBCs are re-oxygenated they regain their original round shape but with repeated oxygenation and deoxygenation the RBC become increasingly hard, brittle, break easily and eventually become irreversibly sickled. This process takes approximately 5 - 30 days (49) depending on the severity of the sickle cell disease. Once they are irreversibly sickled these RBCs are destroyed by the reticulo endothelial system.
This shortened life span of sickle RBCs lead to a haemolytic anaemia. It is important to note that this is not the same as iron deficiency anaemia, since the iron component of destroyed RBCs are stored for re-use, even sickled red blood cells. Evidently the quantity of iron obtained and stored from normal RBCs, which live for 120 days, will be less than that obtained and stored from sickle RBCs which only live for 5 - 30 days.
SICKLING CRISIS
| The major problem with sickle red blood cells is their shape, rigidity and inability to transport oxygen efficiently. They are unable to traverse the small blood vessels, therefore, they are likely to jam up in circulation causing an obstruction in blood flow, this is called vaso-occlusion. If this is not rectified there is ischaemia, tissue infarction and the individual experiences excruciating pain often referred to as a sickle cell crisis. Sickling crisis does not occur in the arteries due to the forceful pumping action of the heart, fast rate of blood flow and peripheral resistance of the arterial walls, ie blood pressure. |  |
| Hypoxia | Acidosis |
| Dehydration | Infection |
| Sudden Changes in Temperature | Stress / Anxiety |
| Physical activity (tissue anoxia) | Additional physical burden (eg. pregnancy) |
| Extreme Fatigue | Trauma |
CLINICAL IMPLICATIONS / COMPLICATIONS OF SICKLE CELL DISEASE
Sickle cell disease has an unpredictable clinical course therefore some of the following complications may or may not occur.
The occurrence of complications also depend on level and competence of health care providers in assessing and managing routine care and complications, and the individual and their family's knowledge and ability to limit the occurrence of some of these complications, for example, adhering to use of prophylactic penicillin. Some of the complications which occur in adulthood are as a result of frequent and chronic damage to tissues and organs.
MANAGEMENT OF PEOPLE WITH SICKLE CELL DISEASE
There is no specific treatment for individuals with sickle cell disease, however, there are prophylactic measures which help to limit episodes of sickling crisis and the complications often triggered by infection and other complications of the disease.
FLUIDS
Maintenance of hydration is an important element in prevention of sickling crisis (42). The amount of fluid required daily, which is in addition to the fluid obtained from food, and are as follows:
| Children | Below 10kg | 150mls / kg body weight / 24 hours |
| 10-20kg | 80mls / kg body weight / 24 hours | |
| 20 + kg | 40mls / kg body weight / 24 hours | |
| Adults | 3 -5 Litres / 24 hours |
PROPHYLAXIS MEDICATION
Childhood immunisations - Due to poor development of the immune system, its is highly recommended that children with haemoglobinopathies, are given a full course of the recommended childhood immunisations. Contracting any of these infectious diseases often prove fatal in this group (28).
Penicillin - Infections caused by the pneumococcus is often the major cause of death in children with sickle cell disease under the age of five (19, 49) the largest death rate occurs in this age group. Worldwide, research has demonstrated that daily use of a broad spectrum antibiotic eg. oral penicillin taken twice a day, significantly reduces the mortality and morbidity rate (whether it is recommended for use once or twice a day depends on the local hospital protocol. In Central Middlesex Hospital, twice a day is preferred but, to promote compliance, once a day is acceptable).
| Dosage of penicillin | 3 months - 1 year | 62.5mg once or twice daily |
| 1 year - 5 years | 125mg once or twice daily | |
| 5 years - adulthood | 250mg once or twice daily |
Folic acid - 5mg once a day in children and adults, required for the manufacture of red blood cells. Most Centres no longer offer this routinely. The diet consumed in the UK is very rich in folate. Provided the individual is eating a normal balanced diet they will obtain the necessary daily requirement from their diet. Some Centres still give it, especially to children.
MANAGEMENT OF PAINFUL CRISIS
Contrary to popular belief, most clients manage their pain at home and only come into hospital when their pain is excruciating. 10% of the client population account for 90% of all hospital admissions. How often a person has a crisis is very unpredictable as is the severity of the crisis. Infection is the main cause of admission in children and painful vaso-occlusive crisis in adults (19). At home and in hospital clients use a range of pain remedies depending on severity of their pain, their preference of pain medication, local GP and hospital protocol.
Summary of Example of Pain Relief Regime Used in Community Settings
| Degree of pain | Medication and Route | Dosage | |
| Children | Mild | Oral analgesia Paracetamol | 12- 15mg / kg/ 8hrly |
| Oral codeine phosphate | 1 - 2mg/kg/24hrs | ||
| Moderate/ Severe | IM Morphine Sulphate | 0.1mg/kg Loading dose | |
| + or - Anti-inflammatory drug eg. Brufen | |||
| Adults | Mild / Moderate | Oral Dihydrocodeine Oral Coproxamol Oral Paracetamol |
|
| + or - Anti-inflammatory drug eg. Ibuprofen | |||
| Moderate / Severe | IM Diamorphine | 5mg/ 15 mins (Maximum 15mg / 2 hourly) | |
| If proven allergic to Morphine IM Pethidine |
75-150mg (max 150mg / 2 hourly) | ||
| or MST | |||
| or Fentanyl Patches | |||
| + or - Anti-inflammatory drug eg. Ibuprofen | |||
| + or - Anti-emetic and Anti-histamine | |||
| + or - Antidepressant eg. Diothepin |
In conjunction factors which may precipitate or aggravate the crisis are addressed, for example, dehydration, infection, stress etc. Depending on the severity of the condition, for example, if the client has had a stroke, splenic sequestration, aplastic crisis or sickle lung they may be given a blood transfusion either as a one off treatment or on a short or long term regime. Generally children under sixteen years of age who have had a stroke are placed on long term transfusion with consideration for bone marrow transplantation if there is there is an HLA match.
THE PSYCHOLOGICAL DIMENSION
Children with sickle cell disease may develop a fear of needles due to their experience of have blood tests or pain relief administered subcutaneously or intramuscularly. They may also develop a dislike of hospitals especially if they have had frequent admissions. The family's ability to cope with the child's sickle cell disease is often demonstrated in the child's positive or negative attitude to their illness and their ability to adapt to its demands (16,17,32). By adulthood inadequate management of sickle cell crisis pain may have had a major psychological impact on the individual. Most adults know someone who has died as a result of having complications associated with sickle cell disease, either in their immediate family, extended family or through relationships formed in the sickle cell clinic or hospital. Therefore, each episode of sickle cell crisis creates fear and anxiety,
"Will the nurses and doctors believe I am in pain?"
"Will they give me pain relief regularly, and enough to relieve the excruciating pain or will I have to suffer long periods of pain?"
" Will they think I am a`junky' because I am in pain?"
" Will I die this time?" .
These anxieties and fears perpetuate the patients focus on the pain and the morbid and justifiable fear of death can be all consuming. This psychological dimension exacerbates the physical experience of the pain and the stress associated with this may compound the sickling crisis.
The recent introduction of alternative therapies, such as acupuncture, aroma-therapy and massage are proving to be of benefit in relieving pain. The use of Cognitive Behavioural Therapy (CBT) is the most recent and novel approach adopted for management of acute and chronic pain in sickle cell disease. Although it is still in its experimental phase in its application to sickle cell disease pain, CBT is beginning to emerge as a therapeutic model which is likely to be viable and effective, provided clients can be encouraged to sustain their efforts to learn the method (Anie et al in press).
THALASSAEMIA
The thalassaemias are genetic defects affecting globin (protein) chain synthesis (production). The type of chain which is affected is dependent on the gene defect inherited. The two most common types affect the adult haemoglobin chains, ie alpha or beta globin chain. If the alpha chain is affected this gives rise to alpha thalassaemia. If the beta chain is affected this gives rise to beta thalassaemia.
ALPHA THALASSAEMIA
Approximately 185 types of genetic abnormalities have been observed which affect the a globin chain, 174 of these are single gene mutations resulting in deletions of the alpha gene. Alpha thalassaemia is considered the most common genetic defect of human haemoglobin, worldwide (29, 57). Alpha gene deletion are the most common causes of alpha thalassaemia. The silent carrier, (one gene is deleted on one chromosome), and alpha plus thalassaemia trait (one gene deleted on both chromosomes ) are clinically insignificant for both parents and their offspring. Alpha zero thalassaemia trait (two genes deleted) has major genetic implications (57). Other than gene deletion there are other defects which give rise to alpha thalassaemia but these are rare.
| GENE | % OF NORMAL CHAIN PRODUCED AND TYPE OF a THALASSAEMIA |
| a a / a a | 100% - Normal production |
| - a / a a | 75% - Alpha Thal silent carrier ( 1 gene inactive) |
| - a / - a | 50% - Alpha plus thal Trait ( 2 genes inactive but on two different chromosomes) |
| - - / a a | 50% - Alpha zero thal Trait ( 2 genes inactive but on the same chromosome) |
| - - / - a | 25% - Alpha plus and alpha zero Thal Haemoglobin H disease (3 genes inactive with a defect on both chromosomes) |
| - - / - - | 0% - Alpha zero Thal Haemoglobin Barts - Hydrops fetalis (4 genes inactive defect on both chromosomes) (Condition is incompatible with life) |
POPULATION AFFECTED
Silent carrier and alpha plus thalassaemia trait are clinically insignificant for individuals who have these conditions. For example, the incidence is:
| - - a / a a(silent carrier) | 20% in African origin (Includes Caribbean Blacks) |
| - a / - a(Alpha plus) | 15- 30% in Asian origin (Especially China) 10% in Mediterranean origin |
Alpha zero thalassaemia is clinically insignificant for the individual concerned but can have potentially serious implications for their offspring, for example, if a couple both have alpha zero or if one parent has alpha plus and the other has alpha zero thalassaemia.
| - - / a a (alpha zero) | 1-2% Mediterranean 5-6% Chinese (SE Asians) Rare in Blacks |
If both parents have alpha zero thalassaemia there is the potential for their child to NOT inherit any alpha genes. In this instance during fetal life the child will not be able to make fetal haemoglobin (Hb F) because Hb F is made up of two gamma (g2) chains and two alpha (a2) chains. In the unlikely event that the fetus survives fetal life, after birth (s)he will not be able to make adult haemoglobin A (Hb A) since this requires two alpha (a2) and two beta (b2) chains.
Example 1: If both parents have alpha plus thalassaemia trait.
| PARENT 1 | PARENT 2 | ||
| - a / - a | - a / - a | ||
| - a / - a | - a / - a | - a / - a | - a / - a |
| Child ? | |||
There is no health risk for this couple's children
Example 2: If both parents have alpha zero thalassaemia trait.
| PARENT 1 | PARENT 2 | ||
| - - /a a | - - / a a | ||
| - - / - - Fatal |
- - / a a | - - / a a | a a / a a |
| Child ? | |||
In each and every pregnancy there is a 1 in 4 chance that this couple's children could inherit alpha thalassaemia major (hydrops fetalis).
CLINICAL SIGNIFICANCE
In alpha thalassaemia one gene deletion and two gene deletions are clinically significant; the red blood cells tend to be slightly smaller (microcytic), paler (hypochromic), with less haemoglobin concentration per cell (57). However, these individuals may be mistajenly diagnosed as having iron deficiency anemia and be treated with iron medications unnecessarily.
Individuals with three gene deletions, also known as H Disease, are, in most cases, well. A client may be unaware that they have this condition until they attend for routine screening; possibly prior to surgery or when pregnant. However, a few may present with a clinical picture of moderately severe haemolytic anaemia with microcytic, hypochromic cells, reduced haemoglobin levels (Hb 7-12 g/dl), and an enlarged spleen. Occasionally, these individuals need blood transfusion, either short or long term, and may need a splenectomy (23, 57).
The most serious scenario is an infant who has not inherited any alpha genes from either parent: this is called `haemoglobin Barts hydrops Fetalis'. This condition is not compatible with life and the fetus usually dies in utero in the first to second trimester of pregnancy. The mother is also in danger of serious complications of pregnancy, eclampsia. Although it is exceptionally rare an exchange transfusion has been performed successfully on a baby in utero and then bone marrow transplant after birth. This was done, experimentally, in the Mediterranean.
BETA THALASSAEMIA
Approximately 340 mutations of the b globin chain have been identified in humans (29). These mutations result in structural defects (eg. Sickle cell), or defects of synthesis. Defects affecting beta chain synthesis cause varying degrees of reduction in the production or total absence of the ß globin chain. The inheritance of one normal haemoglobin A gene and one beta thalassaemia gene results in beta thalassaemia trait (HbAbThal), a healthy carrier state. If the defective gene is partially active, it will synthesise a small amount of beta chains, this is called beta plus thalassaemia (b+). But if there is no gene activity and no beta chains are synthesised this is called beta zero thalassaemia (b°).
| GENE | % OF BETA CHAIN PRODUCED | Hb TYPE |
| A A | 100% | Normal (Healthy) |
| A ßThal | >50% | Beta Thal Trait or Minor (Healthy) |
| ß+Thal ß+Thal | >25% - <50% | Beta Thal Intermedia (May need blood) |
| ß+Thal ß°Thal | > 0% - <25% | Beta Thal Intermedia (May need blood) |
| ß°Thal ß°Thal | 0% | Beta Thal Major (Blood transfusion dependent) |
POPULATION AFFECTED
The incidence of beta thalassaemia trait (HbAbThal), also known as beta thalassaemia minor, occurs in approximately:
| 1 in 7 Greek Cypriots | |
| 1 in 12 Turkish Cypriots | |
| 1 in 20- 50 Asians | |
| 1 in 50 Africans/ Caribbean Blacks | |
| 1 in 1000 White English Caucasians |
BETA THALASSAEMIA MAJOR (DISEASE)
The main problem with beta thalassaemia major is that individuals are not able to make any beta chains and therefore will not be able to make normal adult haemoglobin A which requires a2 b2, and, consequently, normal red blood cells. The red blood cells they produce are immature, unstable and are rapidly destroyed in circulation, leading to haemolytic anaemia.
If an individual is unable to make adult haemoglobin then (s)he will not make healthy red blood cells and, therefore, transportation of oxygen becomes impossible. Due to the presence of fetal haemoglobin at birth ( ie. approximately 75 - 95%) the symptoms associated with this condition will not manifest until the switch over of the fetal to adult haemoglobin occurs and the clinical manifestations starts to emerge at approximately 3 - 6 months of age (23, 29, 57).
In an attempt to compensate for the deficiency of healthy adult haemoglobin the body continues to produce high levels of haemoglobin F for as long as possible. If the child is not given regular blood transfusion and iron chelation (a drug to help eliminate excess iron in the body) the body eventually shows signs of not coping and the serious complications of the condition emerges. Without treatment most children die usually around the age of 5 - 10 years.
CLINICAL IMPLICATIONS / COMPLICATIONS
Early symptoms of thalassaemia major includes stunted growth, vomiting, lethargy, diarrhoea and eventual failure to thrive.
Long term implications and complications, especially of non transfused patients and non-compliance to chelation therapy in those who are transfused, include:
Immuno suppression, stunted growth, physical deformity especially of bony structures (bone marrow expansion, `gnasher' dentition, facial deformity due to degeneration of the sinuses, shortened limbs, spinal collapse etc) organ failure especially liver, kidney and heart (cardiac failure), iron deposits in endocrine and other organs (siderosis), if this occurs in the pancreas damages the islets of langerhans and causes diabetes. Iron deposits in pituitary gland and gonads leads to subsequent interference with hormonal development, failure to develop secondary sexual characteristics, infertility, and development of cancers.
CLINICAL MANAGEMENT
The RBCs of people with beta thalassaemia major are immature when released into circulation, and do not have the right concentration of haemoglobin, they are fragile and poor carriers of oxygen, therefore, they are targeted and destroyed by the reticula-endothelial system. When this occurs the iron they contain is extracted and stored in the liver for re-use in making more RBCs.
Life long blood transfusion remains the only treatment available, therefore, individuals are dependent on this treatment life long, and require transfusion at approximately four to eight week intervals.
Individuals are still able to absorb iron from their normal diet; this combined with the iron released from destroyed RBCs, and the iron in the blood which is given in the transfusion further increases the amount of iron in the body and leads to iron overload. (This also applies to those with sickle cell disease who may be given long term transfusion).
To rectify iron overload individuals need to have iron chelation therapy. This is done by self injection (in the case of children this is done by the parents) of a chelating agent called desferrioxamine (desferal). This is given at least five nights a week via continuous subcutaneous injection, running for approximately eight hours per therapy session. Some specialist units administer the desferal at the same time as the blood transfusion, this often reduces the number of nights the child or adult needs to chelate at home.
EXAMPLES OF COMMON GENE COMBINATIONS
| NORMAL | |
| Hb AA | Haemoglobin AA (most Common gene combination) |
| HEALTHY CARRIER STATES | |
| Hb AS | Sickle Cell Trait |
| Hb AC | Haemoglobin C Trait |
| Hb AD | Haemoglobin D Trait |
| Hb AbThal | Beta Thalassaemia Trait (also known as minor) |
| Hb AE | Haemoglobin E Trait |
| DISEASE STATES | |
| Hb SS | Sickle Cell Anaemia (most serious form but other factors may make it clinically milder eg. presence of HbF) |
| Hb SC | Sickle haemoglobin C disease (can be as serious as HbSS but often clinically milder) |
| Hb Sb+Thal | Sickle beta plus thalassaemia, also referred to as beta thalassaemia intermedia (small amount of normal HbA produced, therefore, clinically milder) |
| Hb Sb° Thal | Sickle beta nought thalassaemia (no Hb A produced clinically similar to sickle cell anaemia) |
| Hb SD | Sickle haemoglobin D disease (clinically similar to sickle cell anaemia) |
| Hb CC | Haemoglobin C disease (although this is a disease the clinical picture if often mild, note that `sickle' is not involved in this condition) Mild haemolytic anaemia, splenomegaly, slight immuno-suppresion, occasional abdominal pain |
| Hb DD | Haemoglobin D disease. Mild haemolytic anaemia, occasional splenomegaly, slight immuno-suppresion, occasional and abdominal pain. |
| Hb bb+ or b+b° | Beta thalassaemia intermedia (varying proportions of normal HbA produced, therefore, tend to be milder, often not dependent on blood) |
| Hb bb° Thal | Beta thalassaemia major (most serious form). Dependent on life long blood transfusion, and chelation |
| Hb Eb° Thal | Haemoglobin E beta thalassaemia (clinically this is as serious as beta thalassaemia major) |
| Hb EE | Haemoglobin E disease. Often mild presenting, variable clinical picture, depending on severity can be similar to beta thalassaemia intermedia or beta thalassaemia major |
ROLE OF COMMUNITY HEALTH CARE NURSES IN PROMOTING SPECIALIST SERVICES
Evidently there is a role for all Primary Health Care professionals to promote development of an effective service, especially nurses, who come into close contact with individuals, families and communities, within an environment which is conducive to the delivery of health promotion messages.
Taking account of cultural, economic, educational and social diversity services need to be tailored to meet the needs of the local community. Because Community health care nurses have a working knowledge of the local community they are best placed and are better able to devise strategies to give information in a format which best meet the needs of their clients. With the primary objective being to promote client awareness, autonomy, empowerment and development of skills which will aid progression towards increasing self efficacy.
Strategies for promoting the development of an effective screening and counselling service in the health authority may include:
- Knowledge of the demographic make up of the local population
- Awareness of the ethnic mix of the population
- Identification and an awareness of the populations with or `at
risk' of haemoglobinopathies
- Awareness of the Purchaser's intentions in respect of promoting
services in the Health Authority
- Knowledge of services, resources available for supporting
developments
- Knowledge of local and national recommendations
- Commitment to participating in provision of an equitable service
- Awareness of influential community representatives and how to
access gate keepers
- Knowledge of Prenatal diagnosis and services available to
expectant women / couples `at risk' of having a child with a major
haemoglobinopathy and the potential benefits and limitations of the
techniques used
- An awareness of the health implications of living with major disease states and the specialist services provided in acute and community sector for supporting individuals, families and the community
PROCESS/ PLANNING
In collaboration and with the support of specialists in the field the process required to achieve the objective of promoting screening and counselling in Primary Care may include:
- Identification of `at risk' population in case load, clinic, school, surgery, client list
- Obtaining relevant data from a variety of sources - eg.
Department of Health report on sickle cell and thalassaemia. Local
health Authority annual report and purchasing intentions. OPCS
statistics. These will help when devising strategies for action.
- Identification of interested parties in local area - may include
health and allied professionals and community representatives eg.
Religious elders etc
- Identification of resources for promoting corporate strategies
and objectives - human and material resources
- Getting started by listing only the realistic and achievable
targets, setting a time frame, identifying a system for evaluating
the effectiveness of actions, publicising achievements and areas for
further development (publish)
- Attempting one goal at a time makes it less daunting and more likely to be achieved · Seek the support (and blessing) of key gate keepers - especially senior managers, purchasers, community representatives
HEALTH PROMOTION
It is essential to consider the health promotion needs of parent's of children with sickle cell disease and that of adults with the condition. This will contribute significantly to reducing occurrence of complications, encourage development of coping strategies, empower clients and encourage development of skills for adjusting to the day to day demands and experiences of living with this debilitating and chronic illness.
Educating the family, health and social carers and individuals with sickle cell disease about is a major contributory factor which has helped to reduce the level of handicap, mortality and morbidity associated with this unpredictable condition.
Primary Health Care professionals need to play a role in supporting clients with major disease states and their families, this may include:
- Awareness of services / resources available from specialist counsellors eg. - specialist clinics, health promotion resources, teaching resources etc
- Awareness of voluntary organisations available for supporting
client group
- Process and policy for screening / counselling services eg.
General, neonatal and ante-natal population
- Awareness of management protocol for children eg. Prophylactic
penicillin daily, full routine childhood immunisation, specific
vaccination (Pneumovax), folic acid (varies depends on specific
hospital policy)
- Education of child and parents, advice on general management,
compliance with prescribed care and prevention of complications,
development of coping mechanisms
- Awareness of management protocol for adults especially routine physical examinations, education for prevention of ill health, compliance with prescribed care, development of autonomy, confidence and self efficacy
SPECIALIST SERVICE PROVIDERS
There are approximately 40 specialist Sickle Cell and Thalassaemia Centres / Services nationwide. The majority of Centres are managed and staffed by specialist nurses and a few have a multidisciplinary team of professionals which may include nurses, doctors, social workers and psychologists. Specialist Centres offer a range of resources which include information, literature, visual aids, advice, counselling, client support and screening services.
| FACT FINDING EXERCISE: Make an appointment to visit your local Sickle Cell and Thalassaemia Centre. Find out: · Proportion of the population with and 'at risk' · How the Centre functions and who works there · The role of the Centre in promoting awareness · Who funds it and how does it work? · What educational resources and programmes are provided to support health, allied and other professionals? |
To find out the name and address of the Specialist Centre in your area contact:
Brent Sickle Cell and Thalassaemia Centre
122 High Street,
Harlesden
London NW10 4SP
Phone: 020 - 8961 9005
Fax: 020 - 8453 0681
E-mail: brent@sickle-thalassaemia.org
Alternatively contact one of the national voluntary Organisations below:
| The Sickle Cell Society 54 Station Road Harlesden London NW10 8AP Phone: 020 - 8961 7795 Fax: 020 - 8961 8346 E-mail: sicklecellsoc@btinternet.org |
United Kingdom Thalassaemia Society 19 The Broadway Southgate Circus London N14 6PH Phone: 020 - 8882 0011 Fax: 020 - 8882 8618 E-mail: office@ukts.org |
REFERENCES & SUGGESTED READING
1. Anie K, Smalling B, Fotopoulos C (2000) Group work: Children and adolescents with sickle cell Community Practitioner 73 (4): 556 - 558
2. Anionwu E N (2000) Review: Patient perceptions of crisis pain management in sickle cell disease: a cross cultural study Nursing Times Research 5 (3): 214
3. Anionwu E N, Atkin K (2001) The Politics of Sickle Cell and Thalassaemia UK: Open University Press
4. Arya R, Bellingham A (1994) Sickle Cell Disease and Surgery Care of the Critically Ill 10 (2): 8487
5. Avila P (2000) Acute Chest Syndrome in Sickle Cell Disease The New England Journal of Medicine 343 (18): 1336 - 1337
6. Ballas S K, (2000) Hydration of sickle erythrocytes using a herbal extract (pfaffia paniculata) in vitro British Journal of Haematology 111: 359 - 362
7. Ballas S.K (1990) Treatment of Pain in Adults with Sickle Cell Disease American Journal of Haematology 34: 49 - 54
8. Ballas S K (1998) Sickle Cell Pain USA: International Association for the Study of Pain
9. Bain B J (2001) Haemoglobinopathy Diagnosis London: Blackwell Science Ltd
10. Beris P, Darbellay R, Extermann P (1995) Prevention of B-Thalassaemia Major and Hb Bart's Hydrops Fetalis Syndrome Seminars in Haematology 32 (4): 224 - 261
11. Bloom M (1995) Understanding Sickle Cell Disease University Press of Mississippi
12. Burghardt - Fitzpatrick G et al (1989) Pain behaviour contracts: Effective management of the adolescent in sickle cell crisis Journal of Paediatric Nursing 4 (5): 320 - 324
13. Cain J, Hammes B (1994) Ethics and Pain Management: respecting Patient Wishes Journal Of Pain and Symptom Management 9 (3): 160 -165, APRIL
14. Chami B, Braconnier F, Riou J et al (1995) Geographical distribution of 119 alleles of the a and b globin genes detected in 432 French Caucasian carriers of haemoglobin variant Annales de Genetique 38 (4): 206 - 216
15. Charache S, Terrin M, Moore R D et al (1995) Effect of Hydroxyurea on the frequency of painful crises in sickle cell anaemia The New England Journal of Medicine 332 (20): 1317 - 1322
16. Clubb R (1993) Chronic Sorrow - Adaptation Patterns of Parents with Chronically Ill Children, Paediatric Nursing
17 (5): 461 - 466 17. Canam C (1993) Common Adaptive Tasks facing Parents of Children with Chronic Conditions, Journal of Advanced Nursing, 18: 46 - 53
18. Davies S C, Roberts-Harewood M (1997) Blood transfusion in sickle cell disease Blood Reviews 11: 57 - 71
19. Davies S C, Oni L (1997) Management of patients with sickle cell disease BMJ 315:656- 660
20. Davies S C, Cronin E, Gill M, Greengross P, Hickman M, Normand C. (2000) Screening for sickle cell disease and thalassaemia: a systematic review with supplementary research Health Technol Assess 4(3) (Can be downloaded from website http://www.hta.nhsweb.nhs.uk )
21. Davies S C, Oni L (2001) Sickle cell Disease screening programs - Integration into managed care Dis Manage Health Outcomes 9(6): 296 - 304
22. Department of Health (1993) Report of a working party of the Standing Medical Advisory Committee on Sickle Cell, Thalassaemia and other Haemoglobinopathies London: HMSO
23.Embury S H., Hebbel R P., Mohandas N., Steinberg M H (1994) Sickle Cell Disease - Basic Principles and Clinical Practice New York: Raven Press
24. Emery J, Hayflick S (2001) The challenge of integrating genetic medicine into primary care British Medical Journal 322: 1027- 1030
25. Falleta J, Woods G, Verter J (1995) Discontinuing penicillin prophylaxis in children with sickle cell anaemia The Journal of Pediatrics 127 (5): 685 - 690
26. Ghould D, Thomas V, Darlinson M (2000) The role of the haemoglobinopathy nurse counsellor: an exploratory study Journal of Advanced Nursing 31(1): 157 - 164
27. Gil K, Thompson R Keith B et al (1993) Sickle Cell Disease in Children and adolescents: Change in Pain Frequency and Coping Strategies over Time Journal of Paediatric Psychology 18 (5): 621 - 637
28. Gill F M, Sleeper L, Weiner S J et al (1995) Clinical Events in the First Decade in a cohort of Infants with Sickle cell Disease 86 (2): 776 - 783
29. Higgs D, Weatherall D J (1993) Bailliere's Clinical Haematology International Practice and Research - The Haemoglobinopathies London: Bailliere Tindall
30. Howard R, Lillis C, Tuck S (1993) Contraceptive, Counselling and Pregnancy in Women with Sickle Cell Disease BMJ 306: 1735 - 1737
31. Human Genetics Commission (2000) Whose Hands on Your Genes? UK: Department of Health
32. Hurtig A et al (1986) Psychosocial adjustment in Children and Adolescents with Sickle Cell Disease British Medical Journal 306: 1735 - 1737
33. Lorenzi E A (1993) The effects of comprehensive guidelines for the care of patients in crisis on the nurses' knowledge base and job satisfaction for care given Journal of Advanced Nursing 18: 1923 - 1930
34. Marteau T M, Lerman C (2001) Genetic risk and behavioural change British Medical Journal 322: 1056 - 1059
35. Maxwell K, Streetly A, Oni L (1997) Fair shares for London Modern Midwife 7(11):15-19
36. Maxwell K, Streetly A (1998) Living with Sickle Pain London: Guy's and St Thomas School of Medicine
37. Midence K, Elander J (1993) Sickle Cell Disease - A Psychosocial Approach UK: Radcliffe Medical Press
38. Modell, B. Petrou M, Layton M et al (1997) Audit of prenatal diagnosis for haemoglobin disorders in the United Kingdom: the first 20 years BMJ 315: 779-784
39. Nwezi E (2001) Malevolent Ogbanje: recurrent reincarnation or sickle cell disease? Social Science & Medicine 52(9): 1403 - 1416
40. Ohnishi S T, Ohnishi T, Ogunmola G B (2000) Sickle Cell Anaemia: A potential nutritional approach for a molecular disease Nutrition 16:330-338
41. Olivieri N F, Brittenham G M, Matsui D et al (1995) Iron Chelation Therapy with Oral Deferiprone in Patients with Thalassaemia Major The New England Journal of Medicine 332 (14): 918 - 922
42. Oni L, Dick M, Smalling B, Walters J (1997) Care and management of your child with sickle cell disease - A parents' guide London: Brent Sickle Cell and Thalassaemia Centre
43. Oni L (1998) Sickle Cell Disease and the Carer - Client Relationship Nursing Times 94 (26): 65 - 67
44. Oni L, Bent S (1998) Sickle Cell Disease Nursing Times Systems & Diseases 94 (37): 50-54
45. Oni L, Brown M, Rochester-Peart C (in press) Care and Management of People with Sickle Cell, Thalassaemia and Related Conditions UK: Butterworth-Heinemann
46. Platt O S (2000) The acute chest syndrome of sickle cell disease New England Journal of Medicine 342 (25):1904-1907
47. Powars D R (2000) Management of cerebral vasculopathy in children with sickle cell anaemia British Journal of Haematology 108:666 - 678
48. Scheter N L, Berde C B, Yaster M (Editors) (1993) Pain in Infants, Children and Adolescents London: Williams and Wilkins
49. Serjeant G (2001) 3rd Edition Sickle Cell Disease Oxford: Oxford University Press
50. Smith-Wynter L (2000) Patient perceptions of crisis pain management in sickle cell disease: a cross cultural study Nursing Times Research 5 (3) : 204 - 213
51. US Department of Health and Human Sciences ((1993) Sickle Cell Disease: Comprehensive Screening and Management in New-borns and Infants USA: Agency for Health Care Policy and Research
52. Valler A H (1994) Street addicts and patients with pain: Similarities and differences Clinical Nurse Specialists 8 (1): 11 - 15
53. Vichinsky E P, Lynne E D N, Eearles A N, et al (2000) Causes and outcomes of the acute chest syndrome in sickle cell disease The New England Journal of Medicine 342 (25): 1855-1865
54. Walding M (1991) Pain, Anxiety and Powerlessness, Journal of Advanced Nursing, 16: 338-397
55. Ware M A, Hambleton I, Ochaya, Serjeant G (1999) Day -care management of sickle cell painful crisis in Jamaica: a model applicable elsewhere British Journal of Haematology 104: 93 - 96
56. Weatherall D J (1997) The Hereditary Anaemias British Medical Journal 314: 492 - 496
57. Weatherall D J, Clegg J B (2001) The Thalassaemia Syndromes London: Blackwell Science Limited
58. World Health Organisation (1994) Guidelines for the Control of Haemoglobin Disorders UK: WHO
59. Young R, Rachal R et al (1992) Smoking is a Factor in causing Acute Chest Syndrome in Sickle Cell Anaemia Journal Of the National Medical Association 84 (3): 267 -271
60. Zeuner D, Ades AE, Karnon J, Brown J, Dezateux C, Anionwu E N Antenatal and neonatal haemoglobinopathy screening in the UK: review and economic analysis Health Technol Assess 1999:3 (11) (Can be downloaded from website http://www.hta.nhsweb.nhs.uk )
COMPILED BY: LOLA ONI,
NURSE DIRECTOR / LECTURER,
BRENT SICKLE CELL & THALASSAEMIA CENTRE,
122 HIGH STREET,
HARLESDEN,
LONDON NW10 4SP
TEL: 020 8961 9005
© (1998, updated 2001)
NOT TO BE REPRODUCED WITHOUT AUTHORISATION