The Physiotherapy Management of Thalassaemia and Sickle Cell Anaemia
Original Editors - Mariam Hashem
- 1 Thalassaemia
- 2 Sickle Cell Anaemia
- 3 Role of Physiotherapy in the management of Thalassaemia and Sickle Cell Anaemia
- 4 References
Thalassaemia is one of the most common inherited diseases. It is defined as an autosomal recessive blood disorder. This means that for the trait or disease to develop, two copies of the abnormal gene must be present, it also has no gender preference.
The disease results from a reduction or absence in the production of globin chains that make up the haemoglobin (Hb) leading to abnormal destruction of erythrocytes and consequently decreased oxygen delivery. As a result, patients have a range of symptoms and complications that impose a large burden on individuals and the healthcare systems.
Thalassaemia is derived from the Greek word "Thalassa" which means ''sea''. It's also referred to as ''Mediterranean Anaemia''. It mainly affects individuals originating from the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia.
There are two types of Thalassaemia: α- and β- depending on the type of the involved globin chain. Alpha Thalassaemia is developed when the alpha gene is affected and likewise, in beta-thalassemia, the globin chain that is affected or the abnormal haemoglobin involved is the beta-globin gen.
The prevalence rate is about 4.4 of every 10000 live births globally and approximately about 5% of all population. It is estimated that there are 270 million carriers of Alpha thalassemia genes. More than 95% of children have alpha thalassemia are Asian, Indian, or Middle Eastern. About 80 to 90 million people are carriers of β-thalassemia genes, that’s about 1% to 1.5% of the worldwide population
It has been estimated that globally 9million carriers of Thalassaemia and Sickle cell anaemia become pregnant each year.
Clinically, Thalassemia is classified into three forms:
- Thalassemia major: this is a severe form of anaemia where patients need continuous blood transfusions throughout their lives.
- Thalassemia intermedia: mild to moderate anaemia, patients occasionally need blood transfusions
- Thalassemia minor or trait: patients have mild symptoms and they usually don’t need blood transfusions.
- A person is a carrier when one gene is mutated
- Alpha Thalassaemia Trait: when two genes are mutated leading to mild manifestations
- Alpha Thalassaemia Major: when three genes are mutated leading to moderate to severe symptoms
- Rarely, four genes might be mutated leading to an early death.
Beta haemoglobin chain is formed of two genes:
Beta Thalassaemia Minor develops when one gene is mutated. Patients experience mild symptoms
Cooley's Anaemia or Beta Thalassaemia Major develops when two genes are mutated leading to moderate to severe manifestation
Symptoms & Complications
- Brittle bones
- Poor appetite
- Liability to infection
- Dark urine
- Generalized body weakness
- Anaemia due to the deficiency of haemoglobin.
- Hepatosplenomegaly: abnormal enlargement of the abdomen.
- Iron overload as a result of repeated blood transfusion. Consequently, a patient may develop further complications such as:
- Endocrine complications such as diabetes, glucose intolerance, decreased production of growth hormone and hypogonadism
- Cardiac disorders, for example, congestive heart failure or arrhythmias
- Hepatic disorders such as cirrhosis and liability to have HCV
The diagnosis is based on the Red Blood Cells (RBC) count specifically the number of erythrocytes.
Other important tests for the diagnosis of Thalassaemia are genetic testing, haemoglobin electrophoresis and reticulocyte count (the number of young RBCs formed from bone marrow)
Although Thalassaemia has a wide range of symptoms and classifications, there are general principals of medical management.
Accurate diagnosis is crucial. The family history should be documented and studied to help assess relative risks and future decisions of the family. Medical management includes:
- Regular transfusions with observations to prevent unnecessary complications 
- Folic acid supplements are also included in the long term management
- Chelation therapy which refers to the extraction the iron excess to prevent iron overload.
- STEM cell transplantation
- Genetic therapy
- Bone marrow transplantation.
- Psychological therapy
Sickle Cell Anaemia
Sickle cell anaemia is an autosomal recessive inherited group of blood disorders characterized by the presences of atypical haemoglobin molecules (haemoglobin S) leading to distortion of erythrocytes red blood cells into a sickle, or crescent, shape. It is characterized by the presences of abnormal haemoglobin, excessive erythrocytes destruction. The crescent or sickle-shaped erythrocytes are approximately 15 microns.
Sickle cell anaemia was diagnosed in 1910 by Dr Ernest who described the red blood cells of a patient with anaemia symptoms as “having the shape of a sickle”
Sickle Cell Anemia is inherited in an autosomal recessive manner due to mutation of the HBB gene leading to Hemoglobin S production
Sickle Cell anaemia mainly affects people with African origins but it has spread globally. The estimated prevalence rate is 250,000 children are born annually with sickle cell anaemia worldwide. Around 1% of all births in Africa are inheriting sickle cell disease, causing 6–15% of all deaths in children younger than 5 years. Autosomal recessive disorders have no gender preference.
There are several types of sickle cell anaemia but the most common are Sickle Cell Anemia (SS), Sickle Hemoglobin-C Disease (SC), Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia.
Sickle Hemoglobin-D Disease (Hemoglobin SD), Hemoglobin SE, And Sickle Hemoglobin-O Disease (Hemoglobin SO) are less common and are usually less severe types
|Sickle Cell Anemia (SS), also known as Hemoglobin SS Disease||The child inherits one substitution beta-globin genes (the sickle cell gene) from each parent.||African and Indian descents.||The most common type||The most severe type|
|Sickle Hemoglobin- C Disease (SC) known as Hemoglobin SC Disease||The child inherits haemoglobin beta S gene from one parent and the haemoglobin C gene from the other.||West African, Mediterranean and Middle Eastern descents.||It is the second most common sickle cell anaemia type. Some normal beta haemoglobin is produced but in reduced amounts.||As there is a production of some normal haemoglobin, this leads to less severe form than haemoglobin SS disease.|
|Sickle Beta-Plus Thalassemia Known as Hemoglobin SB+ (Beta) Thalassemia||The child inherits haemoglobin beta S gene from one parent and a haemoglobin beta plus thalassemia gene from the other parent.||Mediterranean and Caribbean descents||Some normal beta haemoglobin is produced but in reduced amounts.||This is a less severe type than haemoglobin SS disease. Symptoms are milder than Sickle Cell Anemia (SS) and Sickle Hemoglobin- C Disease (SC) but complications can still be developed.|
|Sickle beta zero thalassemia||Haemoglobin S is inherited from one parent and haemoglobin beta0 thalassemia gene mutation is inherited from the other parent||Eastern Saudi Arabia||It has similar symptoms Sickle Cell Anemia (SS) type. The body only produces haemoglobin S.||Less severe|
The severity of the sickle cell anaemia varies from one person to another. People with sickle cell disease can experience acute and chronic signs, symptoms, and various complications.
Sings and Symptoms:
- Jaundice / Icterus
- Dactylitis (swelling of a finger digit)
- Acute chest syndrome
- Acute pain crisis
- Brain complications eg. a clinical /silent stroke
- Chronic pain
- Delayed growth and puberty
- Eye problems
- Heart problems
- Joint complications
- Kidney complications
- Leg ulcers.
- Liver complications
- Pregnancy complications
The most common blood tests used for Sickle cell Anemia diagnosis are :
- Haemoglobin electrophoresis
- High-performance liquid chromatography (HPLC)
- Deoxyribonucleic acid (DNA) testing
Blood Transfusion and STEM cell transplantation are used in the management od Sickle Cell anaemia
Also, Medications are used mainly to reduce the frequency of pain crises in sickle cell anaemia:
- Hydroxyurea (Droxia, Hydrea, Siklos).
- L-glutamine oral powder (Endari).
- Crizanlizumab (Adakveo).
- Pain-relieving medications
- Voxelotor (Oxbryta) -> Improves the anaemia
Role of Physiotherapy in the management of Thalassaemia and Sickle Cell Anaemia
Physiotherapy can help in the management of thalassemia and sickle cell anaemia symptoms  Thalassemia was proven to have a negative impact on pain, muscle strength, functional ability and quality of life in terms of physical, emotional, social and school functioning when compared to healthy children.
Benefits of Physical Activity
Children with thalassemia and sickle cell anaemia experience low physical activity. Low-to-moderate intensity exercises can be helpful in improving physical activity and improve bone strength.
The Center for Disease Control (CDC) recommends
- 60 minutes of physical activity per day for children and adolescents with thalassemia or 12,000 to 15,000 steps/day
- A minimum of 150 minutes of moderate activity (including aerobic, muscle strengthening, and bone-strengthening activities) per week for adults with thalassemia. Or 10 000 steps per day
A study of sickle cell anaemia randomly allocated 40 patients into two groups. One group assigned to follow their normal daily routine and the second group was assigned 40-minute moderate-intensity stationary bicycle workouts three times a week. After eight weeks, biopsies were taken from the thigh muscles of participants. The samples showed that the exercises group had a significant increase in the capillaries density, increase in the number of capillaries around muscle fibre, and increase in the surface area through which oxygen and nutrients can flow between blood and muscle.
One of the most common problems affecting patients with thalassemia and sickle cell anaemia is pain.. Physiotherapy can help patients to manage their pain using different techniques and strategies:
Regular breathing can help in reducing catheter pain in children with thalassaemia. Breathing exercises were also found to help with pain during Venipuncture due to its analgesic effect. This effect can also be achieved when combined with spirometry.
Pulmonary functions and lung capacity were found to be reduced in patients with thalassemia and sickle cell anaemia such as forced vital capacity (FVC), forced expiratory flow in the first second (FEV 1) Functional capacity, anaerobic threshold and O2 pulse; indicating a restrictive pulmonary dysfunction
Whole Body Vibration
A study of thirty-nine children with β-thalassemia major, Whole body vibration was shown to improve the bone mineral density and functional capacity.
Fluidized therapy (Fluidotherapy) it is a high-intensity heat modality consisting of a dry whirlpool of finely divided solid particles suspended in a heated air stream. The mixture has the properties of liquids and provides tactile stimulation while allowing space for performing active range of motion
A study investigated a hydrotherapy program consisting of stretching, aerobics and relaxation exercises in warm water( 34°C ) for 45 minutes, twice a week, for 10 sessions. The study reported improvement in muscle strength, quality of life and decrease in pain
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